G. Salomons

发表

Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1.

M. Milh, N. Villeneuve, A. Pop, 2012, Molecular genetics and metabolism.

Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy.

M. S. van der Knaap, N. Verhoeven, C. Jakobs, 2004, American journal of human genetics.

Alexander Disease

R. Schiffmann, F. Barkhof, D. Ellison, 2019, Definitions.

Unusual variants of Alexander's disease

F. Barkhof, B. Banwell, Richard Robinson, 2005, Annals of neurology.

Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.

W. O'Brien, T. Glover, V. K. Misra, 2005, Molecular genetics and metabolism.

High prevalence of SLC6A8 deficiency in X-linked mental retardation.

H. Ropers, T. Degrauw, J. Fryns, 2004, American journal of human genetics.

X-linked creatine transporter deficiency: clinical aspects and pathophysiology

G. Mancini, G. Salomons, J. M. Kamp, 2014, Journal of Inherited Metabolic Disease.

Post-transcriptional regulation of the creatine transporter gene: functional relevance of alternative splicing.

W. Kanhai, G. Salomons, Joseph D. T. Ndika, 2014, Biochimica et biophysica acta.

Detection of variants in SLC6A8 and functional analysis of unclassified missense variants.

A. Pop, G. Salomons, E. Rosenberg, 2012, Molecular genetics and metabolism.

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

A. De Grassi, J. Abdenur, P. Lennertz, 2017, Journal of Inherited Metabolic Disease.

Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment

M. Knaap, Z. Lukacs, R. Santer, 2014, Journal of Inherited Metabolic Disease.

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.

L. D. de Vries, A. Patapoutian, R. Taft, 2019, American journal of human genetics.

Heterozygous variants in the mechanosensitive ion channel TMEM63A result in transient hypomyelination during infancy

L. D. de Vries, A. Patapoutian, R. Taft, 2019, bioRxiv.

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Kiely N. James, S. Kingsmore, S. Chowdhury, 2019, Nature Communications.

Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.

G. Salomons, E. Jansen, K. Gibson, 2017, Biochimica et biophysica acta. Molecular basis of disease.

X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology

Charles E. Schwartz, Roger E. Stevenson, R. Stevenson, 2006, Human Genetics.

Creatine Deficiency Syndromes

S. Stockler-Ipsiroglu, G. Salomons, S. Mercimek-Mahmutoglu, 2015 .

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.

C. Marshall, Peixiang Wang, G. Salomons, 2015, Gene.

Creatine and guanidinoacetate reference values in a French population.

R. Delorme, F. Rivier, A. Afenjar, 2013, Molecular genetics and metabolism.

Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome

A. Munnich, A. Chabli, C. Mellot‐Draznieks, 2013, Journal of Inherited Metabolic Disease.

Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness.

N. Matsumoto, H. Osaka, H. Saitsu, 2012, Molecular genetics and metabolism.

Phenotypic variability in a portuguese family with x-linked creatine transport deficiency.

L. Diogo, P. Garcia, G. Salomons, 2012, Pediatric neurology.

Creatine Deficiency Syndromes

J. Saudubray, S. Stockler-Ipsiroglu, J. Walter, 2015 .

16 Creatine Deficiency Syndromes

S. Stöckler‐Ipsiroglu, G. Salomons, S. Mercimek-Mahmutoglu, 2011 .

Creatine transporter deficiency in two half‐brothers

N. Longo, G. Salomons, O. Ardon, 2010, American journal of medical genetics. Part A.

Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.

O. Bodamer, S. Stockler-Ipsiroglu, C. Jakobs, 2009, Molecular genetics and metabolism.

Identification, characterization and cloning of SLC6A8C, a novel splice variant of the creatine transporter gene.

C. Jakobs, G. Salomons, E. Rosenberg, 2008, Gene.

The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation

K. Õunap, I. Talvik, C. Jakobs, 2010, Journal of Inherited Metabolic Disease.

Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application

C. Schwartz, T. Degrauw, T. Kleefstra, 2007, Human mutation.

Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.

A. Ribes, A. Ormazabal, R. Artuch, 2007, Clinical biochemistry.

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

William S. Ball, W. Ball, T. Degrauw, 2001, American journal of human genetics.

Congenital creatine transporter deficiency.

M. Schapiro, T. Degrauw, K. Cecil, 2002, Neuropediatrics.

X‐linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8

A. Bizzi, U. Danesi, G. Uziel, 2002, Annals of neurology.

X-linked creatine transporter defect: An overview

C. Schwartz, T. Degrauw, K. Cecil, 2003, Journal of Inherited Metabolic Disease.

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

M. L. Cardoso, L. Vilarinho, N. Verhoeven, 2004, Molecular genetics and metabolism.

X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation.

C. Jakobs, G. Salomons, C. Bellini, 2005, Neurogenetics.

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X‐linked mental retardation in two unrelated Dutch families

C. Catsman-Berrevoets, F. Aarsen, M. Durán, 2005, American journal of medical genetics. Part A.

Evidence for genetic heterogeneity in D‐2‐hydroxyglutaric aciduria

B. Maranda, J. Abdenur, S. Korman, 2010, Human mutation.

Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ‐aminobutyric acid metabolism

T. Bottiglieri, Michelle A. Schmidt, E. Arning, 2019, Journal of inherited metabolic disease.

A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D-2-hydroxyglutaric aciduria type II mouse model

A. Kernytsky, Yaguang Si, S. Gross, 2016, Journal of Inherited Metabolic Disease.

Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria.

M. Avantaggiati, M. McDonald, M. Paige, 2015, JIMD reports.

New insights into creatine transporter deficiency: the importance of recycling creatine in the brain

G. Salomons, C. Jakobs, K. Gibson, 2013, Journal of Inherited Metabolic Disease.

Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation

B. D. de Vries, H. Stroink, T. Kleefstra, 2005, Clinical genetics.

Denaturing gradient gel electrophoresis for the molecular characterization of six patients with guanidinoacetate methyltransferase deficiency.

R. Surtees, O. Bodamer, S. Stöckler‐Ipsiroglu, 2002, Clinical chemistry.

Treatment of intractable epilepsy in a female with SLC6A8 deficiency.

K. Poskitt, G. Horvath, M. Connolly, 2010, Molecular genetics and metabolism.

Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

S. Stockler, G. Salomons, Peter W. Schutz, 2007, Sub-cellular biochemistry.

Arginine supplementation in four patients with X-linked creatine transporter defect

A. Ribes, R. Artuch, M. Pineda, 2008, Journal of Inherited Metabolic Disease.

Creatine and Creatine Kinase in Health and Disease: A Bright Future Ahead?

M. Wyss, T. Wallimann, A. Schulze, 2007 .

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency

P. Bachert, E. Mayatepek, G. Hoffmann, 2006, Neurology.

X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype

A. Fulton, M. Rivkin, F. Alkuraya, 2006, Journal of Inherited Metabolic Disease.

X-Linked creatine transporter deficiency in two patients with severe mental retardation and autism

A. Ribes, R. Artuch, P. Póo-Argüelles, 2006, Journal of Inherited Metabolic Disease.

Lack of creatine in muscle and brain in an adult with GAMT deficiency

I. Harting, P. Bachert, E. Mayatepek, 2003, Annals of neurology.

A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal.

L. Vilarinho, G. Salomons, E. Rosenberg, 2007, Molecular genetics and metabolism.

High frequency of creatine deficiency syndromes in patients with unexplained mental retardation

V. des Portes, D. Cheillan, C. Jakobs, 2006, Neurology.

Guanidinoacetate methyltransferase deficiency identified in adults and a child with mental retardation

M. Durán, N. Verhoeven, C. Jakobs, 2005, American journal of medical genetics. Part A.

Laboratory diagnosis of defects of creatine biosynthesis and transport.

N. Verhoeven, C. Jakobs, G. Salomons, 2005, Clinica chimica acta; international journal of clinical chemistry.

X-gebonden mentale retardatie door creatine transporter defect

P. Pouwels, M. Knaap, G. Mancini, 2006 .

Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts

T. Degrauw, G. Salomons, E. Rosenberg, 2006, Journal of Inherited Metabolic Disease.

Magnetic resonance spectroscopy in a 9-day-old heterozygous female child with creatine transporter deficiency.

Joseph F. Clark, T. Degrauw, K. Cecil, 2003, Journal of computer assisted tomography.

Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency.

J. Barkovich, M. Wirt, G. Salomons, 2012, Molecular genetics and metabolism.

GAMT deficiency

M. Durán, R. Surtees, A. Adami, 2006, Neurology.

Successful treatment of a guanidinoacetate methyltransferase deficient patient: findings with relevance to treatment strategy and pathophysiology.

P. Sijens, A. Schulze, C. Jakobs, 2007, Molecular genetics and metabolism.

Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids

R. Zannolli, U. Engelke, L. Kluijtmans, 2009, NMR in biomedicine.

Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency.

P. Pouwels, G. Sinclair, S. Stockler, 2012, Molecular genetics and metabolism.

X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype

A. Fulton, M. Rivkin, F. Alkuraya, 2006, Journal of Inherited Metabolic Disease.

Treatment outcome of creatine transporter deficiency: international retrospective cohort study

K. Õunap, D. Koeberl, A. Schulze, 2018, Metabolic brain disease.

M. L. Cardoso, L. Vilarinho, P. Domingues, 2004, Clinica chimica acta; international journal of clinical chemistry.

Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy

D. Turnbull, R. Appleton, D. Isherwood, 2007, Journal of Inherited Metabolic Disease.

Creatine deficiency syndrome. A treatable myopathy due to arginine–glycine amidinotransferase (AGAT) deficiency

D. Cheillan, G. Salomons, S. Nouioua, 2013, Neuromuscular Disorders.

Global developmental delay in guanidionacetate methyltransferase deficiency: differences in formal testing and clinical observation

P. Sijens, N. Verhoeven, G. Salomons, 2007, European Journal of Pediatrics.

Genotype–phenotype correlation of contiguous gene deletions of SLC6A8, BCAP31 and ABCD1

H. Osaka, G. Salomons, G. Mancini, 2015, Clinical Genetics.

X-Linked Creatine Transporter Deficiency Presenting as a Mitochondrial Disorder

J. Vockley, O. Abdul-Rahman, M. Friez, 2010, Journal of child neurology.

Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language

M. King, C. Jakobs, G. Salomons, 2009, Developmental medicine and child neurology.

Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database

C. Schwartz, J. T. Dunnen, O. Abdul-Rahman, 2011, European Journal of Human Genetics.

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

J. Abdenur, M. Tassini, N. Dorison, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis.

E. Struys, G. Salomons, E. Jansen, 2017, JIMD reports.

A pilot study to estimate incidence of guanidinoacetate methyltransferase deficiency in newborns by direct sequencing of the GAMT gene.

J. Loeber, A. Pop, W. Kanhai, 2016, Gene.

Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate.

G. Salomons, A. Chan, S. Mercimek-Mahmutoglu, 2014, Pediatric Neurology.

Promiscuous activity of arginine:glycine amidinotransferase is responsible for the synthesis of the novel cardiovascular risk factor homoarginine

H. Blom, M. Davids, T. Teerlink, 2012, FEBS letters.

Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.

G. Sinclair, Silvy J. M. Dooren, C. Jakobs, 2012, Molecular genetics and metabolism.

Reply to Mandel.

H. Ropers, G. Salomons, 2004 .

RNA Sequencing of Creatine Transporter (SLC6A8) Deficient Fibroblasts Reveals Impairment of the Extracellular Matrix

G. Pals, Mark A. Wiel, Silvy J. M. Dooren, 2014, Human mutation.

Epilepsy spectrum in cerebral creatine transporter deficiency

A. Ribes, B. Merinero, F. Sanmartí, 2009, Epilepsia.

Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency.

M. S. van der Knaap, N. Verhoeven, C. Jakobs, 2004, Clinical chemistry.

Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency.

R. Battini, S. Stöckler‐Ipsiroglu, N. Verhoeven, 2003, Clinical chemistry.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

A. Munnich, C. Schwartz, P. Pouwels, 2013, Journal of Medical Genetics.

Novel ALDH5A1 variants and genotype

E. Hanson, P. Pearl, A. Pop, 2020, Neurology.

Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for γ-hydroxybutyric acid (GHB) in biofluids

G. Salomons, E. Jansen, K. Gibson, 2016, Molecular genetics and metabolism reports.

Diagnostic challenges in a severely delayed infant with hypersomnolence, failure to thrive and arteriopathy: A unique case of γ‐hydroxybutyric aciduria and Williams syndrome

J. Ganesh, I. Knerr, M. Bennett, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency

C. Yalçınkaya, K. Gibson, P. Pearl, 2004, Clinical Neurophysiology.

The molecular basis of succinic semialdehyde dehydrogenase deficiency in one family.

E. Van Obberghen, C. Jakobs, G. Salomons, 2004, Molecular genetics and metabolism.

Preemptive screening of DPYD as part of clinical practice: high prevalence of a novel exon 4 deletion in the Finnish population

A. V. van Kuilenburg, G. Salomons, J. Saarenheimo, 2021, Cancer Chemotherapy and Pharmacology.

Expanded phenotype of AARS1-related white matter disease

A. Vanderver, R. Schiffmann, R. Carrozzo, 2021, Genetics in Medicine.

Overexpression of GAMT restores GAMT activity in primary GAMT-deficient fibroblasts.

L. Vilarinho, N. Verhoeven, G. Salomons, 2006, Molecular genetics and metabolism.

Preclinical tissue distribution and metabolic correlations of vigabatrin, an antiepileptic drug associated with potential use‐limiting visual field defects

Michelle A. Schmidt, G. Salomons, E. Jansen, 2019, Pharmacology research & perspectives.

Tumor-specific down-regulation of the tumor necrosis factor-related apoptosis-inducing ligand decoy receptors DcR1 and DcR2 is associated with dense promoter hypermethylation.

J. Herman, S. Baylin, R. Pieters, 2002, Cancer research.

Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly

Dillon Y. Chen, J. Gleeson, H. Houlden, 2020, Nature Communications.

Folinic acid–responsive seizures are identical to pyridoxine‐dependent epilepsy

P. Waters, B. Plecko, S. Stockler-Ipsiroglu, 2009, Annals of neurology.

CD46-associated atypical hemolytic uremic syndrome with uncommon course caused by cblC deficiency

G. Salomons, J. Davin, A. Bouts, 2010, Pediatric Nephrology.

Punctate white matter lesions in full-term infants with neonatal seizures associated with SLC13A5 mutations.

L. D. de Vries, D. Craiu, E. Brilstra, 2017, European journal of paediatric neurology.

Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency.

M. Ralser, B. Kara, C. Jakobs, 2013, The Turkish journal of pediatrics.

Novel Heterozygous Mutations in TALDO1 Gene Causing Transaldolase Deficiency and Early Infantile Liver Failure

S. Balasubramaniam, C. Jakobs, G. Salomons, 2011, Journal of pediatric gastroenterology and nutrition.

Transaldolase deficiency in two new patients with a relative mild phenotype.

A. Tylki-Szymańska, G. Salomons, M. Wamelink, 2009, Molecular genetics and metabolism.

Recessive ITPA mutations cause an early infantile encephalopathy

Q. Waisfisz, M. Weiss, J. Bierau, 2015, Annals of neurology.

WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly

M. Spielmann, A. Zibat, J. Altmüller, 2022, Human mutation.

Novel mutations in pyridoxine-dependent epilepsy.

C. Corne, C. Jakobs, E. Struys, 2011, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Novel (ovario) leukodystrophy related to AARS2 mutations

A. Vanderver, R. Schiffmann, T. Meitinger, 2014, Neurology.

Direct comparison of quantitative digital PCR and 2-hydroxyglutarate enantiomeric ratio for IDH mutant allele frequency assessment in myeloid malignancy

M. Dennis, T. Somervaille, C. Clark, 2015, Leukemia.

Mutations in phenotypically mild D‐2‐hydroxyglutaric aciduria

S. Korman, E. Van Schaftingen, N. Verhoeven, 2005, Annals of Neurology.

Human pyrroline-5-carboxylate reductase (PYCR1) acts on Δ1-piperideine-6-carboxylate generating L-pipecolic acid

E. Struys, G. Salomons, E. Jansen, 2014, Journal of Inherited Metabolic Disease.

Malonic aciduria: long-term follow-up of new patients detected by newborn screening

E. Mayatepek, A. Schlune, F. Distelmaier, 2014, European Journal of Pediatrics.

Severe X-linked mental retardation caused by mutations in the gene for the thyroid hormone transporter MCT8

T. Degrauw, J. Fryns, T. Kleefstra, 2004 .

Characterization of the human gene encoding alpha-aminoadipate aminotransferase (AADAT).

Ankita Patel, M. Geraghty, C. Jakobs, 2002, Molecular Genetics and Metabolism.

Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology

J. Dowling, X. Wen, G. Salomons, 2017, PloS one.

Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.

J. Sass, I. Knerr, A. Rauch, 2006, Molecular genetics and metabolism.

The Baxα:Bcl‐2 ratio modulates the response to dexamethasone in leukaemic cells and is highly variable in childhood acute leukaemia

A. Hart, G. Salomons, H. Brady, 1997, International journal of cancer.

L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.

D. Zafeiriou, G. Uziel, M. Wajner, 2009, Radiology.

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria

O. Boulat, A. Superti-Furga, C. Jakobs, 2009, European Journal of Pediatrics.

Hemiconvulsion-Hemiplegia-Epilepsy Syndrome as a Presenting Feature of L-2-Hydroxyglutaric Aciduria

M. Born, C. Jakobs, G. Salomons, 2006, Journal of child neurology.

Novel L2HGDH mutations in 21 patients with L‐2‐hydroxyglutaric aciduria of Portuguese origin

A. Amorim, F. Santorelli, M. L. Cardoso, 2005, Human mutation.

A novel mutation as a cause of L-2-hydroxyglutaric aciduria

O. Hardiman, M. King, G. Salomons, 2009, Journal of Neurology.

Metabolomic analyses of vigabatrin (VGB)-treated mice: GABA-transaminase inhibition significantly alters amino acid profiles in murine neural and non-neural tissues

T. Bottiglieri, Michelle A. Schmidt, E. Arning, 2019, Neurochemistry International.

A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies.

E. Schaftingen, K. Gibson, E. Van Schaftingen, 2011, Biochimica et biophysica acta.

Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment

J. Pitt, K. Howell, E. Struys, 2014, Developmental Medicine & Child Neurology.

Pyridoxine-dependent Epilepsy With Elevated Urinary α-Amino Adipic Semialdehyde in Molybdenum Cofactor Deficiency

B. Nota, E. Struys, G. Salomons, 2012, Pediatrics.

Incidence and Geographic Distribution of Succinic Semialdehyde Dehydrogenase (SSADH) Deficiency.

P. Pearl, S. Attri, G. Salomons, 2017, JIMD reports.

An international classification of inherited metabolic disorders (ICIMD)

Robert W. Taylor, A. Ballabio, E. Bertini, 2020, Journal of inherited metabolic disease.

Exome sequencing reveals mutated SLC19A3 in patients withan early-infantile, lethal, encephalopathy

Q. Waisfisz, P. Heutink, M. Knaap, 2013, Brain : a journal of neurology.

Irreversible brain creatine deficiency with elevated serum and urine creatine: A creatine transporter defect?

B. Wong, W. Ball, T. Degrauw, 2001, Annals of neurology.

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy

Hanlin Gao, C. V. van Karnebeek, S. Gospe, 2018, Journal of Inherited Metabolic Disease.

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: a common epileptic encephalopathy

Hanlin Gao, C. V. van Karnebeek, S. Gospe, 2018, Journal of Inherited Metabolic Disease.

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation☆

N. Abeling, E. Struys, G. Salomons, 2016, Molecular genetics and metabolism reports.

Pyridoxine-dependent epilepsy due to antiquitin deficiency: achieving a favourable outcome

L. Diogo, P. Garcia, E. Struys, 2013, Epileptic disorders : international epilepsy journal with videotape.

An intriguing “silent” mutation and a founder effect in antiquitin (ALDH7A1)

P. Clayton, M. Willemsen, L. Bok, 2007, Annals of neurology.

Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel.

S. Korman, M. S. van der Knaap, C. Jakobs, 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.

M. Knaap, M. S. van der Knaap, N. Verhoeven, 2001, American journal of human genetics.

Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency

P. Rinaldo, A. Pop, G. Salomons, 2020, JIMD reports.

Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients

C. Karnebeek, W. Kanhai, G. Salomons, 2021, Journal of pediatric endocrinology & metabolism : JPEM.

Insights into the Regulatory Domain of Cystathionine Beta‐Synthase: Characterization of Six Variant Proteins

I. Rivera, H. Blom, J. B. Vicente, 2014, Human mutation.

Preferential accumulation of the active S-(+) isomer in murine retina highlights novel mechanisms of vigabatrin-associated retinal toxicity

T. Bottiglieri, E. Arning, G. Salomons, 2020, Epilepsy Research.

Phenotyping GABA transaminase deficiency: a case description and literature review

A. Dinis, L. Diogo, P. Garcia, 2016, Journal of Inherited Metabolic Disease.

Inhibition of mutant IDH1 decreases D-2-HG levels without affecting tumorigenic properties of chondrosarcoma cell lines

A. Cleton-Jansen, E. Danen, C. Waaijer, 2015, Oncotarget.

Torin 1 partially corrects vigabatrin-induced mitochondrial increase in mouse

G. Salomons, E. Jansen, K. Gibson, 2015, Annals of clinical and translational neurology.

IDH1 R132H decreases proliferation of glioma cell lines in vitro and in vivo

C. Hoogenraad, M. Lamfers, S. Leenstra, 2011, Annals of neurology.

Progress in understanding 2-hydroxyglutaric acidurias

M. S. van der Knaap, C. Jakobs, E. Struys, 2012, Journal of Inherited Metabolic Disease.

IDH2 Mutations in Patients with d-2-Hydroxyglutaric Aciduria

E. Holme, E. Schaftingen, J. Smeitink, 2010, Science.

Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic

E. Donner, E. Imhof, G. Salomons, 2017, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic MARS1 variants

H. Prokisch, O. Sommerburg, M. Griese, 2020, Pediatric pulmonology.

Fetal akinesia deformation sequence and massive perivillous fibrin deposition resulting in fetal death in six fetuses from one consanguineous couple, including literature review

Q. Waisfisz, M. Weiss, G. Salomons, 2021, Molecular genetics & genomic medicine.

Mutational analysis of Bax and Bcl‐2 in childhood acute lymphoblastic leukaemia

G. Salomons, L. Smets, J. Zsiros, 1998, International journal of cancer.

Creatine and creatine kinase in health and disease--a bright future ahead?

M. Wyss, T. Wallimann, A. Schulze, 2007, Sub-cellular biochemistry.

ras oncogene activation and the expression of ras-related genes in human lung cancer

S. Rodenhuis, R. Slebos, G. Salomons, 1993 .

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.

W. Chung, S. Saitta, J. Wynn, 2016, American journal of human genetics.

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.

R. Stevenson, C. Schwartz, H. Lubs, 2002, American journal of human genetics.

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.

W. Gahl, G. Mancini, W. Vermeulen, 2019, American journal of human genetics.

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

J. Rosenfeld, J. Lupski, D. Horn, 2020, Genetics in Medicine.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

R. Pfundt, C. Cytrynbaum, J. Vincent, 2020, American journal of human genetics.

E. Bertini, A. Vanderver, N. Brunetti‐Pierri, 2019, Annals of clinical and translational neurology.

Mutations in RARS cause hypomyelination

P. Pouwels, Q. Waisfisz, R. Rodenburg, 2014, Annals of neurology.

A case of severe methylenetetrahydrofolate reductase deficiency presenting as neonatal encephalopathy, seizures, microcephaly and central hypoventilation

H. Blom, S. Balasubramaniam, G. Salomons, 2013, Journal of Pediatric Neurology.

Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency

K. Gibson, D. Gavrilov, G. Hoganson, 2007, Journal of Inherited Metabolic Disease.

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

J. Rosenfeld, J. Lupski, D. Horn, 2020, Genetics in Medicine.

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

R. Taft, Q. Waisfisz, R. Rodenburg, 2019, Neurology.

Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

I. Thiffault, B. Coulombe, B. Weschke, 2018, American journal of human genetics.

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease

H. Smeets, R. Kamps, B. J. van den Bosch, 2018, European Journal of Human Genetics.

A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy

T. Obata, H. Osaka, K. Kurosawa, 2010, Journal of Inherited Metabolic Disease.

Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.

M. Schuelke, W. Stenzel, G. Salomons, 2019, JIMD reports.

Propensity for paternal inheritance of de novo mutations in Alexander disease

M. Knaap, D. Rodriguez, O. Boespflug-Tanguy, 2006, Human Genetics.

Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes

T. Bottiglieri, P. Rinaldo, E. Arning, 2020, Metabolic Brain Disease.

Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism

P. Pearl, G. Salomons, E. Jansen, 2016, Journal of Inherited Metabolic Disease.

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease‐causing mutations in patients with SSADH deficiency

A. Novelletto, M. Grompe, K. Gibson, 2003, Human mutation.

Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.

M. Grompe, R. Schutgens, C. Jakobs, 2001, Molecular genetics and metabolism.

IDH1-mutated transgenic zebrafish lines: An in-vivo model for drug screening and functional analysis

M. Lamfers, P. French, P. S. Sillevis Smitt, 2018, PloS one.

A Hypomorphic Dars1D367Y Model Recapitulates Key Aspects of the Leukodystrophy HBSL

A. Bongers, Dominik Fröhlich, M. Klugmann, 2021, Frontiers in Cellular Neuroscience.

Vigabatrin-Induced Retinal Functional Alterations and Second-Order Neuron Plasticity in C57BL/6J Mice

M. Hoon, B. Pattnaik, G. Salomons, 2020, Investigative ophthalmology & visual science.

Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C.

I. Rivera, H. Blom, J. B. Vicente, 2015, Human molecular genetics.

Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients

R. Ramos, I. Rivera, H. Blom, 2014, Journal of Inherited Metabolic Disease.

Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease

B. Banwell, S. Naidu, R. Weller, 2005, Annals of neurology.

Efficacy of vigabatrin intervention in a mild phenotypic expression of succinic semialdehyde dehydrogenase deficiency.

G. Cioni, R. Battini, C. Jakobs, 2011, JIMD reports.

Alexander disease causing hereditary late‐onset ataxia with only minimal white matter changes: A report of two sibs

C. Delnooz, G. Salomons, J. Schelhaas, 2008, Movement Disorders.

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria.

E. Sistermans, M. McDonald, T. Ben-Omran, 2013, American journal of human genetics.

CHAPTER 1 INTRODUCTION – CREATINE : CHEAP ERGOGENIC SUPPLEMENT WITH GREAT POTENTIAL FOR HEALTH AND DISEASE

T. Wallimann, G. Salomons, 2007 .

In vitro modeling of experimental succinic semialdehyde dehydrogenase deficiency (SSADHD) using brain-derived neural stem cells

G. Salomons, E. Jansen, J. Roullet, 2017, PloS one.

Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?

J. Cameron, G. Salomons, E. Jansen, 2021, PloS one.

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

S. Bione, P. J. van der Spek, J. Hoeijmakers, 2021, Human molecular genetics.

The acute effect of beta‐guanidinopropionic acid versus creatine or placebo in healthy men (ABC‐Trial): A randomized controlled first‐in‐human trial

Joseph F. Clark, L. Brewster, R. Nieuwland, 2017, British journal of clinical pharmacology.

X-linked creatine transporter deficiency

C. Jakobs, G. Salomons, C. Bellini, 2005, Neurogenetics.

Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family

S. Marret, G. Salomons, A. Goldenberg, 2021, International journal of molecular sciences.

The clinical syndrome of creatine transporter deficiency

W. Ball, A. Byars, K. Cecil, 2003, Molecular and Cellular Biochemistry.

Cloning and characterization of the promoter regions from the parent and paralogous creatine transporter genes.

W. Kanhai, G. Salomons, Joseph D. T. Ndika, 2014, Gene.

Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.

H. Waterham, S. Natesan, Silvy J. M. Dooren, 2020, Molecular genetics and metabolism.

Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene

C. Marshall, Peixiang Wang, G. Salomons, 2015, Molecular Genetics and Genomics.

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

R. Delorme, F. Rivier, A. Afenjar, 2012, Orphanet Journal of Rare Diseases.

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect

Nathalie Boddaert, Arnold Munnich, A. Munnich, 2012, Journal of Inherited Metabolic Disease.

Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency

P. Pouwels, M. Knaap, G. Mancini, 2008, neurogenetics.

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

E. Christensen, N. Dorison, A. Lund, 2014, Human mutation.

Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns

M. Nelen, M. Gelb, R. Wevers, 2022, Clinica chimica acta; international journal of clinical chemistry.

A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever

E. Schmitt, J. Rivière, J. Thevenon, 2021, Human mutation.

Phenotypes and genotypes of mitochondrial aminoacyl‐tRNA synthetase deficiencies from a single neurometabolic clinic

R. Jobling, S. Blaser, G. Salomons, 2019, JIMD reports.

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

D. Knol, F. Aarsen, P. Pouwels, 2011, Journal of Inherited Metabolic Disease.

Are cerebral creatine deficiency syndromes on the radar screen

N. Verhoeven, C. Jakobs, G. Salomons, 2006 .

High prevalence of SLC6A8 deficiency, a novel X-linked mental retardation syndrome

R. Stevenson, C. Schwartz, T. Degrauw, 2005 .

Propionic acidemia as a cause of adult-onset dilated cardiomyopathy

S. Heymans, H. Brunner, S. Ferdinandusse, 2017, European Journal of Human Genetics.

Screening of male patients with autism spectrum disorder for creatine transporter deficiency.

T. Degrauw, G. Salomons, G. Chuck, 2007, Neuropediatrics.

Polar metabolomics in human muscle biopsies using a liquid-liquid extraction and full-scan LC-MS

R. Houtkooper, F. Vaz, Bauke V. Schomakers, 2022, STAR protocols.

Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.

W. Craigen, E. Van Schaftingen, N. Verhoeven, 2005, American journal of human genetics.

An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study

D. Zafeiriou, J. Celli, J. D. den Dunnen, 2010, Human mutation.

Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals.

J. M. van de Kamp, P. Rinaldo, A. Schulze, 2015, Clinical chemistry.

Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing

E. Christensen, M. S. van der Knaap, D. Sie, 2013, Journal of Medical Genetics.

Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria

M. Knaap, K. Gibson, S. Korman, 2009, Journal of Inherited Metabolic Disease.

Measurement of d-2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from d-2-hydroxyglutaric aciduria patients

K. Gibson, E. Struys, G. Salomons, 2009, Journal of Inherited Metabolic Disease.

l-2-Hydroxyglutaric aciduria presenting with severe autistic features

D. Zafeiriou, C. Jakobs, G. Salomons, 2008, Brain and Development.

L-2-hydroxyglutaric aciduria in two female Yorkshire terriers.

R. Artuch, G. Salomons, Matilde Fernandez, 2012, Journal of the American Animal Hospital Association.

2-hydroxyglutaric aciduria

E. Struys, G. Salomons, van der Knaap, 2020, Definitions.

Mutation analysis a prerequisite for prenatal diagnosis of L-2-hydroxyglutaric aciduria?

C. Jakobs, G. Salomons, M. Leontsini, 2007, Molecular genetics and metabolism.

L-2-hydroxyglutaric Aciduria in Two Female

R. Artuch, G. Salomons, Matilde Fernandez, 2012 .

Exocytotic release of creatine in rat brain

C. Jakobs, A. Schoffelmeer, G. Salomons, 2006, Synapse.

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients

W. Chung, A. Heijboer, R. Lapatto, 2018, Journal of inherited metabolic disease.

A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency

O. Dirsch, M. Knaap, T. Voit, 2005, Journal of Inherited Metabolic Disease.

Alexander disease - astrogliopathy considered as leukodystrophy - experience of an institution.

G. Salomons, H. Mierzewska, E. Szczepanik, 2016, Developmental period medicine.

Unusual Diagnosis in a Child Suffering From Juvenile Alexander Disease: Clinical and Imaging Report

R. Zimmerman, B. Bernardi, M. S. van der Knaap, 2006, Journal of child neurology.

R. Ramos, L. Diogo, P. Garcia, 2015, Journal of Inherited Metabolic Disease.

Infantile-Onset Alexander Disease

M. S. van der Knaap, G. Salomons, Suvasini Sharma, 2013, Journal of child neurology.

Unraveling pathology in juvenile Alexander disease: serial quantitative MR imaging and spectroscopy of white matter

F. Barkhof, P. Pouwels, J. P. van der Voorn, 2009, Neuroradiology.

Alexander disease: early presence of cerebral MRI criteria.

C. Korff, J. Delavelle, M. S. van der Knaap, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

Kiely N. James, S. Kingsmore, S. Chowdhury, 2019, Nature Communications.

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

Yair Anikster, H. Kayserili, Y. Anikster, 2017, Human mutation.

Atypical MRI findings in Canavan disease: a patient with a mild course.

C. Yalçınkaya, M. Rolland, M. S. van der Knaap, 2005, Neuropediatrics.

Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case

A. Thurm, N. Longo, M. Pasquali, 2016, Journal of developmental and behavioral pediatrics : JDBP.

Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL

J. Fock, M. S. van der Knaap, M. Bugiani, 2015, Neuropediatrics.

Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood

P. Chakraborty, A. Guberman, P. Pearl, 2015, Neurology.

[Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin].

C. Pérez-Cerdá, C. Jakobs, G. Salomons, 2010, Anales de pediatria.

Human Mutation

E. Schaftingen, M. S. van der Knaap, E. Van Schaftingen, 2019 .

Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients

A. V. van Kuilenburg, M. S. van der Knaap, G. Salomons, 2020, neurogenetics.

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.

S. Bione, P. J. van der Spek, J. Hoeijmakers, 2019, American journal of human genetics.

Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy

D. Gouma, F. Daams, W. van Hecke, 2016, Neurology.

Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification.

P. Waters, B. Plecko, S. Stockler-Ipsiroglu, 2009, Molecular genetics and metabolism.

Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine‐dependent seizures

P. Striano, G. Capovilla, C. Jakobs, 2009, Epilepsia.

Pyridoxine-Dependent Seizures Caused by Alpha Amino Adipic Semialdehyde Dehydrogenase Deficiency: The First Polish Case with Confirmed Biochemical and Molecular Pathology

S. Jóźwiak, C. Jakobs, E. Struys, 2008, Journal of child neurology.

Co-morbidity of Sanfilippo Syndrome type C and d-2-hydroxyglutaric aciduria

M. Patterson, S. Kirmani, D. Oglesbee, 2011, Journal of Neurology.

Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: update of 34 patients

W. Chung, A. Heijboer, R. Lapatto, 2018, Journal of Inherited Metabolic Disease.

Defecten in de pentose fosfaat route

G. Salomons, M. Wamelink, C. Jakobs, 2012 .

Clinical , biochemical , and molecular overview of transaldolase deficiency and evaluation of the endocrine function

W. Chung, A. Heijboer, R. Lapatto, 2022 .

Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.

M. Gonzalès, J. Saudubray, P. de Lonlay, 2006, The Journal of pediatrics.

Treatment of ARS deficiencies with specific amino acids

C. V. van Karnebeek, E. Nieuwenhuis, H. Rehmann, 2021, Genetics in Medicine.

Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy

M. Burch, M. Dixon, G. Salomons, 2010, Journal of Inherited Metabolic Disease.

Treatment outcome of creatine transporter deficiency: international retrospective cohort study

K. Õunap, D. Koeberl, A. Schulze, 2018, Metabolic Brain Disease.

Adult GAMT deficiency: A literature review and report of two siblings

Phillip A. Richmond, C. Ross, W. Wasserman, 2021, Molecular genetics and metabolism reports.

Torsional nystagmus induced by subthalamic nucleus stimulation

C. Delnooz, G. Salomons, J. Schelhaas, 2008, Movement disorders : official journal of the Movement Disorder Society.

T cells from baxalpha transgenic mice show accelerated apoptosis in response to stimuli but do not show restored DNA damage‐induced cell death in the absence of p53.

A. Berns, G. Salomons, H. Brady, 1996, The EMBO journal.

Novel association of early onset hepatocellular carcinoma with transaldolase deficiency.

W. Chung, Yufeng Shen, C. Jakobs, 2014, JIMD reports.

Diagnosis and Molecular Characterization of Nonclassic Forms of Tay-Sachs Disease in Brazil

M. Born, R. Rzem, M. Veiga-da-Cunha, 2006 .

L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients.

D. Zafeiriou, G. Uziel, M. Wajner, 2009, Radiology.

Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene

E. Christensen, N. Dorison, A. Lund, 2014, Human mutation.

[1H] Magnetic Resonance Spectroscopy of Urine: Diagnosis of a Guanidinoacetate Methyl Transferase Deficiency Case

R. Zannolli, U. Engelke, R. Wevers, 2010, Journal of child neurology.

Infantile Liver Failure Syndrome 1 associated with a novel variant of the LARS1 gene: Clinical, genetic, and functional characterization

M. Genuardi, G. Salomons, S. Costa, 2020, Clinical genetics.

Mutations in RARS cause hypomyelination

P. Pouwels, Q. Waisfisz, R. Rodenburg, 2014, Annals of neurology.

Creatine deficiency syndromes

G. Salomons, G. V. D. Berghe, J. Saudubray, 2012 .

Exome sequencing reveals mutated SLC19A3 in patients withan early-infantile, lethal, encephalopathy

Q. Waisfisz, P. Heutink, M. Knaap, 2013, Brain : a journal of neurology.

Novel association of early onset hepatocellular carcinoma with transaldolase deficiency.

W. Chung, Yufeng Shen, C. Jakobs, 2014, JIMD reports.

Long term follow-up in GAMT deficiency – Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data

P. Huppke, G. Salomons, S. Dreha-Kulaczewski, 2024, Molecular genetics and metabolism reports.

Neuropathology in succinic semialdehyde dehydrogenase deficiency.

I. Knerr, P. Pearl, C. Jakobs, 2010, Pediatric neurology.

Post-transcriptional regulation of the creatine transporter gene: functional relevance of alternative splicing.

W. Kanhai, G. Salomons, Joseph D. T. Ndika, 2014, Biochimica et biophysica acta.

Disorders of fatty acid homeostasis.

S. Ferdinandusse, G. Salomons, Frédéric M. Vaz, 2024, Journal of inherited metabolic disease.

Sex‐specific newborn screening for X‐linked adrenoleukodystrophy

Samantha L. van der Beek, S. Ferdinandusse, A. Heijboer, 2022, Journal of inherited metabolic disease.

Four-dimensional lipidomics profiling in X-linked adrenoleukodystrophy using trapped ion mobility mass spectrometry

M. van Weeghel, G. Salomons, J. V. van Klinken, 2024, Journal of lipid research.

Creatine transporter deficiency in two half‐brothers

N. Longo, G. Salomons, O. Ardon, 2010, American journal of medical genetics. Part A.

Frequent reconstitution of IDH2R140Q mutant clonal multilineage hematopoiesis following chemotherapy for acute myeloid leukemia

M. Dennis, T. Somervaille, E. Struys, 2016, Leukemia.

[Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin].

G. Salomons, C. Jakobs, G. I. Escalera, 2010, Anales de pediatria.

Impact of COVID-19 on Pediatric Laboratory Medicine: An IFCC C-ETPLM, SSIEM, ISNS Global Survey

J. Bonham, T. P. Loh, G. Salomons, 2022, EJIFCC.

Development and implementation of a novel assay for l-2-hydroxyglutarate dehydrogenase (l-2-HGDH) in cell lysates: l-2-HGDH deficiency in 15 patients with l-2-hydroxyglutaric aciduria

M. Knaap, K. Gibson, G. Salomons, 2009, Journal of Inherited Metabolic Disease.

[L-2-hydroxyglutaric aciduria: report on two cases].

S. Wagner, G. Salomons, E. Schmitt, 2014, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy

G. Salomons, Inge M. E. Dijkstra, Hemmo A F Yska, 2024, Communications Medicine.

D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?

K. Gibson, A. Tsai, G. Salomons, 2006, Molecular genetics and metabolism.

D-2-hydroxyglutaric aciduria and glutaric aciduria type 1 in siblings: coincidence, or linked disorders?

S. Korman, C. Jakobs, G. Salomons, 2004, Neuropediatrics.

Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.

S. Ferdinandusse, M. van Weeghel, G. Salomons, 2024, Biochimica et biophysica acta. Molecular and cell biology of lipids.