R. Santer

J. Ehrich, R. Santer, S. Scholl‐Bürgi, 2004, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans.

R. Santer, B. Steinmann, J. Schaub, 2003, Gastroenterology.

Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)

K. Tsiakas, R. Santer, S. Dulz, 2020, Ophthalmic genetics.

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

M. Baumgartner, E. Mayatepek, I. Knerr, 2009, Journal of Inherited Metabolic Disease.

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop

M. Baumgartner, E. Mayatepek, I. Knerr, 2009, Journal of Inherited Metabolic Disease.

Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.

Z. Lukacs, R. Santer, Z. Lukács, 2006, Molecular nutrition & food research.

Nephrolithiasis in a child with glucose-galactose malabsorption

V. Tasic, N. Blau, R. Santer, 2004, Pediatric Nephrology.

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis

F. Kortüm, D. Lessel, J. Denecke, 2021, Neonatology.

Disorders of Glucose Transport

R. Santer, J. Klepper, 2006 .

Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome

R. Santer, R. Schneppenheim, B. Steinmann, 1998, Nature Genetics.

Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia

D. Zafeiriou, G. Horvath, G. Hoffmann, 2022, Annals of neurology.

Tetrahydrobiopterin Responsiveness in Phenylketonuria. Two New Cases and a Review of Molecular Genetic Findings

N. Blau, J. Zschocke, R. Santer, 2002, Journal of Inherited Metabolic Disease.

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.

T. Strom, H. Williams, H. Brunner, 2017, American journal of human genetics.

DiGeorge syndrome with discordant phenotype in monozygotic twins

R. Siebert, R. Santer, E. Simeoni, 2000, Journal of medical genetics.

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

M. Tuchman, M. Baumgartner, S. Waisbren, 2020, Scientific Reports.

MLYCD mutation analysis: Evidence for protein mistargeting as a cause of MLYCD deficiency

D. Fitzpatrick, A. Ribes, D. Thorburn, 2003, Human mutation.

Stoffwechselerkrankungen

M. Melter, R. Santer, U. Baumann, 2013, Pädiatrische Gastroenterologie, Hepatologie und Ernährung.

Mutation analysis in 54 propionic acidemia patients

M. Baumgartner, T. Suormala, S. Grünert, 2012, Journal of Inherited Metabolic Disease.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Commentary

Robert W. Taylor, S. Dimauro, D. Turnbull, 2006 .

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

P. Laforêt, Irene J. Hoogeveen, U. Steuerwald, 2016, Journal of Inherited Metabolic Disease.

Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro

R. Santer, U. Finckh, A. Gal, 2006, FEBS letters.

The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein

S. Grünert, K. Tsiakas, M. Lindner, 2021, Journal of inherited metabolic disease.

Celiac disease and selective IgA deficiency in a girl with atypical Turner syndrome.

R. Santer, M. Brand, S. Schewior, 1999, Journal of pediatric gastroenterology and nutrition.

Response of exocrine pancreas to corticosterone and aldosterone after adrenalectomy.

R. Santer, E. Lebenthal, P. C. Lee, 1989, Journal of steroid biochemistry.

Disorders of Fructose Metabolism

R. Santer, B. Steinmann, 2000 .

Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive.

H. Naim, R. Santer, D. Wanes, 2022, Biochimica et biophysica acta. Molecular basis of disease.

Treatment of hyperinsulinaemic hypoglycaemia with nifedipine

R. Santer, M. Hufnagel, P. Quick, 1999, European Journal of Pediatrics.

Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany.

N. Karabul, T. Marquardt, R. Santer, 2015, JIMD reports.

Severe Hypomyelination as the Leading Neuroradiological Sign in a Patient with Fucosidosis

R. Santer, J. Kuehr, S. Arnold, 2008, Neuropediatrics.

Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome

L. de Meirleir, R. Wevers, S. Wortmann, 2015, Neuropediatrics.

Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status

M. Merkel, J. Zschocke, R. Santer, 2009, Journal of Inherited Metabolic Disease.

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

H. Prokisch, J. Hentschel, A. Gropman, 2022, Nutrients.

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

R. Russell, H. Prokisch, C. Klein, 2019, Genetics in Medicine.

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

H. Mefford, Manuela Pendziwiat, H. Muhle, 2018, Genetics in Medicine.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Robert W. Taylor, D. Turnbull, M. Zeviani, 2006, Brain : a journal of neurology.

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

R. Ganetzky, H. Prokisch, E. Eklund, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

CHAPTERR 5 Cardiolipi nn deficiency in X-linked cardioskeletal myopathy and neutropenia ( Barthh syndrome , MIM 302060 ) : a study in cultured skin fibroblasts

P. Vreken, F. Baas, R. Wanders, 2007 .

Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients.

B. Weschke, S. Groeschel, I. Krägeloh-Mann, 2016, JAMA neurology.

Propionic acidemia: neonatal versus selective metabolic screening

M. Baumgartner, T. Suormala, S. Grünert, 2012, Journal of Inherited Metabolic Disease.

Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport.

R. Santer, B. Steinmann, J. Schaub, 2002, Current molecular medicine.

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

M. Baumgartner, M. Hochuli, R. Lachmann, 2013, Journal of Inherited Metabolic Disease.

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.

M. Baumgartner, Á. Schuler, N. Blau, 2008, Molecular genetics and metabolism.

SARS Coronavirus-2 variant tracing within the first Coronavirus Disease 19 clusters in northern Germany

M. Aepfelbacher, J. Knobloch, R. Kobbe, 2020, Clinical Microbiology and Infection.

Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia

R. Santer, D. Müller, J. Schaub, 1997, Journal of Inherited Metabolic Disease.

Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a

U. Schüller, T. Pietsch, S. Rutkowski, 2018, Child's Nervous System.

Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms.

M. Kemper, R. Santer, C. Mühlhausen, 2018, JIMD reports.

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire.

H. Mizumoto, S. Wortmann, S. Grünert, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study

M. Baumgartner, S. Grünert, T. Marquardt, 2020, Journal of inherited metabolic disease.

Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency

R. Santer, B. Afroze, B. Steinmann, 2013, European Journal of Pediatrics.

Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency

Z. Lukacs, R. Santer, A. Gal, 2005, Journal of Inherited Metabolic Disease.

Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.

T. Suormala, E. R. Baumgartner, U. Stephani, 2003, Molecular genetics and metabolism.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

S. Grünert, J. Sass, G. Mitchell, 2017, Molecular Genetics and Metabolism.

Medium-chain acyl CoA dehydrogenase deficiency: Electron microscopic differentiation from Reye syndrome

J. Fischer, R. Santer, E. Lebenthal, 1990, European Journal of Pediatrics.

Decreased activity of respiratory-chain enzymes in glutaric aciduria type II

R. Santer, W. Ruitenbeek, J. Schaub, 1995, Journal of Inherited Metabolic Disease.

Population Screening for Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Analysis of Medium-Chain Fatty Acids and Acylglyeines in Blood Spots

M. Bennett, M. Ragni, R. Santer, 1994, Annals of clinical biochemistry.

A Survey of the Newborn Populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 Variant Allele with Haplotype Analysis at the Medium Chain Acyl-CoA

H. Eiberg, A. Ribes, S. Kmoch, 1997, Pediatric Research.

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis

R. Santer, M. du Moulin, E. Maier, 2016, Orphanet Journal of Rare Diseases.

3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

M. Baumgartner, T. Suormala, W. Yue, 2012, Orphanet Journal of Rare Diseases.

Newborn screening for 3‐methylcrotonyl‐CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment

J. Fletcher, I. Knerr, P. Mayerhofer, 2006, Human mutation.

Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method.

C. Stanley, M. Durán, M. Bennett, 1993, The Journal of pediatrics.

Elevated serum biotinidase activity in hepatic glycogen storage disorders–A convenient biomarker

M. Baumgartner, R. Santer, B. Steinmann, 2007, Journal of Inherited Metabolic Disease.

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

P. Clayton, G. Schwarz, D. Martinelli, 2022, Redox biology.

V. Rubio, N. Boddaert, J. Häberle, 2012, Orphanet Journal of Rare Diseases.

A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia

G. Assmann, H. Wiebusch, R. Santer, 1996, Human mutation.

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

M. Baumgartner, T. Suormala, S. Grünert, 2013, Orphanet Journal of Rare Diseases.

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

H. Mandel, M. Hochuli, J. Jordan, 2014, Orphanet Journal of Rare Diseases.

Neutrophil aggregates in a 13-year-old girl: a rare hematological phenomenon

R. Santer, A. Claviez, H. Horst, 2003, Annals of Hematology.

Properties of human alkaline phosphatase and prenatal diagnosis of hypophosphatasia

R. Santer, Y. Shin-Buehring, M. Osang, 1981, Journal of Inherited Metabolic Disease.

A secondary respiratory chain defect in a patient with Fanconi–Bickel syndrome

B. Chevallier, M. Brivet, R. Santer, 2002, Journal of Inherited Metabolic Disease.

Isolated defect of peroxisomal β-oxidation in a 16-year-old patient

R. Wanders, R. Schutgens, R. Santer, 1993, European Journal of Pediatrics.

Fanconi-Bickel syndrome – the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature

R. Santer, R. Schneppenheim, B. Steinmann, 1998, European Journal of Pediatrics.

Long‐term outcomes after liver transplantation for deoxyguanosine kinase deficiency: A single‐center experience and a review of the literature

T. Marquardt, K. Tsiakas, R. Santer, 2014, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

K. Gempel, R. Horvath, T. Berger, 2006, Archives of neurology.

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

D. Zafeiriou, M. Verbeek, H. Goez, 2021, Nature Communications.

Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature

R. Santer, I. Barić, M. Ćuk, 2016, Journal of pediatric endocrinology & metabolism : JPEM.

Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II

M. Schweizer, M. Amling, T. Braulke, 2013, EMBO molecular medicine.

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome

S. Norgren, J. Leonard, R. Santer, 2001, Human Genetics.

A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay

F. Kortüm, J. Denecke, G. Rosenberger, 2018, neurogenetics.

The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe

R. Santer, R. Schneppenheim, A. Kohlschütter, 2005, Human mutation.

[Rectum and bladder duplication with malformations of the VACTERL association].

R. Santer, H. Schröder, 1987, Klinische Padiatrie.

Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.

P. Vreken, F. Baas, R. Wanders, 2002, The Journal of pediatrics.

Surgical Aspects of Liver Transplantation and Domino Liver Transplantation in Maple Syrup Urine Disease: Analysis of 15 Donor‐Recipient Pairs

R. Santer, S. Nadalin, X. Rogiers, 2019, Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society.

The first case of domino‐split‐liver transplantation in maple syrup urine disease

B. Nashan, R. Santer, L. Fischer, 2017, Pediatric transplantation.

High proportion of large genomic STK11 deletions in Peutz‐Jeghers syndrome

P. Propping, S. Aretz, R. Santer, 2005, Human mutation.

Effect of Thyroxine on the Maturation of Cholecystokinin (CCK) Receptors in Pancreatic Acini of Neonatal Rats

R. Santer, E. Lebenthal, Y. Leung, 1990, Pancreas.

Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

S. Grünert, T. Marquardt, S. Kölker, 2021, Journal of inherited metabolic disease.

High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K

M. Amling, R. Santer, T. Schinke, 2007, Osteoporosis International.

Nectin-4 mutations causing ectodermal dysplasia with syndactyly perturb the rac1 pathway and the kinetics of adherens junction formation.

F. Brancati, B. Dallapiccola, G. Cestra, 2014, The Journal of investigative dermatology.

The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1

M. Nolan, P. Andersen, R. Heller, 2023, Brain communications.

von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.

D. Mueller-Wiefel, E. Kohne, J. Häberle, 2003, Blood.

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

R. Russell, H. Prokisch, C. Klein, 2019, Genetics in Medicine.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype.

A. Hoischen, A. Need, D. Goldstein, 2016, American journal of human genetics.

Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

Vicente A. Yépez, J. Gagneur, T. Meitinger, 2021, medRxiv.

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

A. Bassett, B. Trost, M. Reuter, 2022, European Journal of Human Genetics.

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies

S. Scherer, A. Bassett, B. Trost, 2022, European Journal of Human Genetics.

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.

R. Durbin, T. Meitinger, T. Strom, 2016, American Journal of Human Genetics.

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Robert W. Taylor, Vicente A. Yépez, J. Gagneur, 2021, medRxiv.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

H. Mefford, Manuela Pendziwiat, H. Muhle, 2018, Genetics in Medicine.

Exome Sequencing in Children.

T. Meitinger, T. Strom, F. Kortüm, 2019, Deutsches Arzteblatt international.

Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis—A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients

R. Santer, L. Ammer, S. Breyer, 2022, Journal of clinical medicine.

Celiac disease in Down's syndrome.

R. Santer, H. Oldigs, E. Sievers, 1991, Journal of pediatric gastroenterology and nutrition.

[Williams-Beuren syndrome in combination with celiac disease].

R. Santer, A. Gosch, R. Pankau, 1993, Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde.

Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.

Yves Sznajer, Ana Rita, V. Tasic, 2008, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A‐deficient immortalized mesenchymal stromal cells

L. Schöls, I. Krägeloh-Mann, R. Handgretinger, 2017, Human mutation.

Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

Robert W. Taylor, W. Chung, H. Prokisch, 2017, Annals of neurology.

MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2.

D. Bichet, R. Santer, J. Calado, 2017, Journal of the American Society of Nephrology : JASN.

Laboratory signs of activated coagulation are common in Henoch-Schönlein purpura

R. Santer, R. Schneppenheim, A. Hahn, 2001, Pediatric Nephrology.

Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome

R. Santer, R. Schneppenheim, B. Steinmann, 1997, Nature Genetics.

CLCN7 and TCIRG1 Mutations Differentially Affect Bone Matrix Mineralization in Osteopetrotic Individuals

A. Schulz, U. Kornak, M. Hahn, 2014, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

I. Harting, D. Zafeiriou, J. Friedman, 2021, Journal of inherited metabolic disease.

Hip Morphology in Mucolipidosis Type II

E. Vettorazzi, R. Santer, S. Pohl, 2020, Journal of clinical medicine.

A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe

R. Santer, W. Fazeli, M. Kirschstein, 2015, BMC Gastroenterology.

Glucose Transporter-1 (GLUT1) Deficiency Syndrome: Diagnosis and Treatment in Late Childhood

T. Bast, R. Wevers, E. Kamsteeg, 2012, Neuropediatrics.

Glyceroluria and neonatal hemochromatosis.

R. Santer, P. Whitington, I. Barić, 2012, Journal of pediatric gastroenterology and nutrition.

Ursodesoxycholic acid: effect on xanthomas in Alagille-Watson syndrome.

R. Santer, H. Oldigs, M. Krawinkel, 1994, Journal of pediatric gastroenterology and nutrition.

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.

C. Largiadèr, K. Tsiakas, J. Häberle, 2008, Molecular genetics and metabolism.

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.

H. Prokisch, U. Löbel, T. Haack, 2017, Mitochondrion.

Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria

S. Kölker, R. Santer, P. Burgard, 2022, Journal of inherited metabolic disease.

No Correlation between AVPR1A Promoter Polymorphisms and Prepulse Inhibition in Patients with Nocturnal Enuresis

R. Santer, P. Bismarck, P. Eggert, 2014 .

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.

Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.

S. Grünert, J. Sass, R. Santer, 2012, Molecular genetics and metabolism.

Fanconi–Bickel syndrome and fertility

R. Santer, C. von Schnakenburg, 2011, American journal of medical genetics. Part A.

A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia

R. Santer, M. Spada, A. Ponzone, 2004, Journal of Inherited Metabolic Disease.

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome

B. Maranda, A. Novelli, R. Santer, 2019, Journal of inherited metabolic disease.

Bilateral nuclear cataracts as the first neonatal sign of Fanconi–Bickel syndrome

G. Sersale, R. Santer, R. Parini, 2006, Journal of Inherited Metabolic Disease.

Successful pregnancy in the patient with Fanconi‐Bickel syndrome undergoing daily hemodialysis

R. Czajka, K. Ciechanowski, R. Santer, 2011, American journal of medical genetics. Part A.

Fanconi–Bickel syndrome – A congenital defect of the liver-type facilitative glucose transporter

R. Santer, R. Schneppenheim, B. Steinmann, 1998, Journal of Inherited Metabolic Disease.

The boy with massive glucosuria.

A. Sarkissian, R. Santer, B. Steinmann, 2004, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Elements of diabetic nephropathy in a patient with GLUT 2 deficiency.

B. Szwergold, J. Baynes, R. Santer, 2005, Molecular genetics and metabolism.

Effects of Infantile Hypophosphatasia on Human Dental Tissue

M. Amling, K. Tsiakas, B. Busse, 2022, Calcified Tissue International.

Tubulointerstitial nephritis and uveitis in association with Epstein-Barr virus infection

R. Santer, P. Eggert, B. Nölle, 1999, Pediatric Nephrology.

Longitudinal Development of Antibody Responses in COVID-19 Patients of Different Severity with ELISA, Peptide, and Glycan Arrays: An Immunological Case Series

M. Addo, P. Seeberger, R. Kobbe, 2021, Pathogens.

Distinct early IgA profile may determine severity of COVID-19 symptoms: an immunological case series

Peter H. Seeberger, Jasmin Heidepriem, Felix F. Loeffler, 2020, medRxiv.

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

M. Zeviani, E. Lamantea, M. Filosto, 2005, Brain : a journal of neurology.

Molecular analysis of the SGLT2 gene in patients with renal glucosuria.

C. L. Lassen, J. Ehrich, M. Kemper, 2003, Journal of the American Society of Nephrology : JASN.

A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration.

H. Eiberg, A. Ribes, S. Kmoch, 1997 .

Computed tomography in superior mesenteric artery syndrome

R. Santer, T. Rossi, M. M. Riddlesberger, 2005, Pediatric Radiology.

Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease

R. Santer, U. Wendel, J. Schaub, 1994, Journal of Inherited Metabolic Disease.

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

H. Prokisch, F. Kortüm, S. Wortmann, 2021, Clinical genetics.

Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium

M. Baumgartner, Y. Chien, S. Grünert, 2022, Journal of inherited metabolic disease.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

William E. Byrd, David R. Murdock, Marni J. Falk, 2020, Brain : a journal of neurology.

Phenotype in an Infant with SOD1 Homozygous Truncating Mutation.

P. Andersen, S. Marklund, M. Hempel, 2019, The New England journal of medicine.

A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency

M. Baiget, E. Quadros, R. Santer, 2004, Human mutation.

A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C

V. Ng, P. Gissen, S. Santra, 2021, Children.

Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes—possibility for newborn screening

Z. Lukacs, R. Santer, M. Beck, 2010, Journal of Inherited Metabolic Disease.

Hippocampal synaptic connectivity in phenylketonuria.

R. Vierk, G. Rune, R. Santer, 2015, Human molecular genetics.

Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia

M. Merkel, R. Santer, C. Mühlhausen, 2005, Journal of Inherited Metabolic Disease.

Detection and quantitation of acylcarnitines in plasma and blood spots from patients with inborn errors of fatty acid oxidation.

C. Stanley, M. Durán, M. Bennett, 1992, Progress in clinical and biological research.

Phenylketonuria: Direct and indirect effects of phenylalanine

G. Rune, R. Santer, K. Ullrich, 2016, Experimental Neurology.

Neonatal cholestasis and glucose‐6‐P‐dehydrogenase deficiency

U. Steuerwald, R. Santer, R. Schneppenheim, 2010, Pediatric blood & cancer.

childhood TTP Von Willebrand factor cleaving protease and ADAMTS13 mutations in

D. Mueller-Wiefel, E. Kohne, J. Häberle, 2013 .

Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease.

H. Prokisch, M. Hempel, I. Wittig, 2023, Molecular genetics and metabolism.

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency

N. Stence, K. Haldar, M. Ugarte, 2022, Human molecular genetics.

von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.

D. Mueller-Wiefel, E. Kohne, J. Häberle, 2003, Blood.

A Child With Night Blindness

M. Kemper, K. Rüther, R. Santer, 2012, Journal of child neurology.

Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors

K. Tsiakas, R. Santer, U. Herden, 2023, Molecular genetics and metabolism reports.

Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

H. Prokisch, M. Hempel, R. Santer, 2020, Molecular genetics and metabolism reports.

Dried blood spots in the diagnosis of lysosomal storage disorders--possibilities for newborn screening and high-risk population screening.

F. Hanisch, R. Santer, M. Beck, 2011, Clinical biochemistry.

Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.

R. Santer, J. Calado, 2010, Clinical journal of the American Society of Nephrology : CJASN.

CNS Manifestations in Mucolipidosis Type II—A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients

J. Denecke, R. Santer, S. Pohl, 2023, Journal of clinical medicine.

Newborn screening for 3‐methylcrotonyl‐CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment

J. Fletcher, I. Knerr, P. Mayerhofer, 2006, Human Mutation.

Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease.

R. Santer, A. Kohlschütter, P. Nieves Cobos, 2019, Clinica chimica acta; international journal of clinical chemistry.

Cerebrospinal fluid concentrations of leukotriene B4 in bacterial meningitis

R. Santer, J. Schaub, E. Sievers, 1996, Acta paediatrica.

Neonatal screening for isovaleric aciduria: Reducing the increasingly high false‐positive rate in Germany

J. Okun, R. Santer, U. Mütze, 2022, JIMD Reports.

Newborn screening for metachromatic leukodystrophy in Northern Germany- a prospective study

Thomas P. Mechtler, R. Santer, B. Streubel, 2021, Molecular Genetics and Metabolism.

Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment

S. Kölker, M. Lindner, R. Santer, 2023, Journal of inherited metabolic disease.