D. Haas

发表

Impact of glycogen storage disease type I on adult daily life: a survey

S. Grünert, P. Burgard, S. Garbade, 2021, Orphanet Journal of Rare Diseases.

A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome[S]

Libin Xu, Z. Korade, Wei Liu, 2014, Journal of Lipid Research.

Abnormal sterol metabolism in holoprosencephaly

M. Muenke, D. Haas, 2010, American journal of medical genetics. Part C, Seminars in medical genetics.

LC–MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism

U. Ceglarek, J. Thiery, K. Mohnike, 2015, Analytical and Bioanalytical Chemistry.

Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.

T. Meitinger, T. Strom, H. Prokisch, 2018, American journal of human genetics.

Ubiquinol‐induced gene expression signatures are translated into altered parameters of erythropoiesis and reduced low density lipoprotein cholesterol levels in humans

F. Döring, J. Okun, C. Schmelzer, 2011, IUBMB life.

Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.

U. Dillmann, S. Ferdinandusse, S. Denis, 2006, American journal of human genetics.

Bile Acid Precursors Compete with very Long Chain Fatty Acids for Translocation into Peroxisomes

J. Okun, G. Hoffmann, C. Jakobs, 2013 .

Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta

M. Hersberger, L. Opitz, C. Langhans, 2021, Frontiers in Genetics.

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.

E. Mayatepek, J. Zschocke, M. Lindner, 2001, Molecular genetics and metabolism.

A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.

E. Leshinsky‐Silver, D. Lev, T. Lerman-Sagie, 2014, European journal of medical genetics.

Coenzyme Q10 is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria

E. R. Baumgartner, R. Rodenburg, J. Okun, 2009, Journal of Inherited Metabolic Disease.

Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis.

K. Grzeschik, E. Bröcker, H. Hamm, 2008, Acta dermato-venereologica.

Orphanet Journal of Rare Diseases BioMed Central Review

G. Hoffmann, D. Haas, 2006 .

Abnormal prenatal ultrasound findings in mevalonic aciduria

U. Gembruch, G. Hoffmann, V. Schwarzer, 2008, Prenatal diagnosis.

Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family.

I. Harting, C. Fischer, U. Moog, 2014, Journal of child neurology.

Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblasts

H. Runz, M. Muenke, G. Hoffmann, 2007, Journal of Medical Genetics.

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

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

Identification of 14 novel mutations in DHCR7 causing the Smith‐Lemli‐Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy

P. Clayton, G. Utermann, R. Kelley, 2005, Human mutation.

Inherited disorders of cholesterol biosynthesis.

R. Kelley, G. Hoffmann, D. Haas, 2001, Neuropediatrics.

Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome

P. Clayton, G. Utermann, R. Kelley, 2004, Journal of Medical Genetics.

L-alanine supplementation in late infantile glycogen storage disease type II.

O. Bodamer, G. Hoffmann, A. Reuser, 2002, Pediatric neurology.

Impact of glycogen storage disease type I on adult daily life: a survey

S. Grünert, P. Burgard, S. Garbade, 2021, Orphanet Journal of Rare Diseases.

Plasma and thrombocyte levels of coenzyme Q10 in children with Smith‐Lemli‐Opitz syndrome (SLOS) and the influence of HMG‐CoA reductase inhibitors

G. Hoffmann, W. Andler, D. Haas, 2008, BioFactors.

The reduced form of coenzyme Q10 mediates distinct effects on cholesterol metabolism at the transcriptional and metabolite level in SAMP1 mice

F. Döring, J. Okun, K. Higuchi, 2010, IUBMB life.

Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]

M. Witsch-Baumgartner, D. Haas, H. Sawyer, 2013, European Journal of Human Genetics.

Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation

D. Berg, M. Spraul, A. Pilotto, 2020, Orphanet Journal of Rare Diseases.

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.

The molecular basis of aminoacylase 1 deficiency.

H. Omran, J. Sass, E. Christensen, 2011, Biochimica et biophysica acta.

Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.

A. Anarat, Chunyue Feng, Jianhua Mao, 2022, Kidney international.

Identification of a haplotype associated with cholesterol deficiency and increased juvenile mortality in Holstein cattle.

M. Hewicker-Trautwein, C. Wurmser, R. Fries, 2016, Journal of dairy science.

Successful intrauterine treatment of a patient with cobalamin C defect

M. Baumgartner, D. Scheible, M. Huemer, 2016, Molecular genetics and metabolism reports.

Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients[S]

R. Steiner, Libin Xu, Wei Liu, 2013, Journal of Lipid Research.

Amyloidosis Cutis Dyschromica, a Rare Cause of Hyperpigmentation: A New Case and Literature Review

K. Schäkel, N. Lang, M. Bettendorf, 2017, Pediatrics.

Phenylalanine Effects on Brain Function in Adult Phenylketonuria

K. Scheffler, D. Berg, A. Padovani, 2020, Neurology.

Non‐lethal non‐mosaic male with conradi–hunermann syndrome caused by a novel EBP c.356T>G mutation

H. Hummler, M. Genčík, H. Bode, 2013, American journal of medical genetics. Part A.

Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF.

A. Schulze, J. Okun, G. Hoffmann, 2014, Gene.

Quantitative Acylcarnitine Profiling in Peripheral Blood Mononuclear Cells Using In Vitro Loading With Palmitic and 2-Oxoadipic Acids: Biochemical Confirmation of Fatty Acid Oxidation and Organic Acid Disorders

H. Schulze‐Bergkamen, E. Mayatepek, C. Greenberg, 2005, Pediatric Research.

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

Saskia B Wortmann, Rolph Pfundt, R. Pfundt, 2011, European Journal of Human Genetics.

Semisynthetic sensor proteins enable metabolic assays at the point of care

Pierre-Alain Binz, Kai Johnsson, Qiuliyang Yu, 2018, Science.

Ethylmalonic Encephalopathy: Clinical and Biochemical Observations

D. Zafeiriou, N. Gregersen, A. Sewell, 2007, Neuropediatrics.

Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non‐syndromic retinitis pigmentosa

C. Marshall, Birgit B Ertl-Wagner, E. Mayatepek, 2022, Clinical genetics.

Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation

J. Bierau, J. Okun, G. Hoffmann, 2019, PloS one.

Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

H. Waterham, R. Wanders, E. Mayatepek, 2003, Pediatrics.

Health Outcomes of Infants With Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated.

S. Grünert, S. Kölker, J. Okun, 2021, The Journal of pediatrics.

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

H. Blom, S. Grünert, K. Kahrizi, 2016, Journal of Inherited Metabolic Disease.

Three-generational alkaptonuria in a non-consanguineous family

S. Tinschert, K. Oexle, M. Lee-Kirsch, 2008, Journal of Inherited Metabolic Disease.

Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey

L. D’Antiga, N. Hadžić, H. Verkade, 2017, Journal of pediatric gastroenterology and nutrition.

Differential diagnosis in patients with suspected bile acid synthesis defects.

D. Russell, G. Engelmann, P. Clayton, 2012, World journal of gastroenterology.

Differences of Phenylalanine Concentrations in Dried Blood Spots and in Plasma: Erythrocytes as a Neglected Component for This Observation

N. Blau, J. Okun, G. Hoffmann, 2021, Metabolites.

A novel missense mutation in a neonate with nonketotic hyperglycinemia.

S. Meyer, M. Shamdeen, C. Acquaviva, 2010, Pediatric neurology.

Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria

K. Scheffler, D. Berg, C. Zipser, 2019, Journal of inherited metabolic disease.

Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry.

J. Sass, W. Nyhan, J. Okun, 2006, Clinical chemistry.

Prenatal Presentation and Diagnostic Evaluation of Suspected Smith–Lemli–Opitz (RSH) Syndrome

G. Hoffmann, P. Burgard, D. Haas, 2013, American journal of medical genetics. Part A.

Mevalonate kinase deficiency and autoinflammatory disorders.

G. Hoffmann, D. Haas, 2007, The New England journal of medicine.

Effects of cholesterol and simvastatin treatment in patients with Smith–Lemli–Opitz syndrome (SLOS)

J. Zschocke, G. Hoffmann, P. Burgard, 2007, Journal of Inherited Metabolic Disease.

Characterization of large deletions in the DHCR7 gene

M. Suri, M. Witsch-Baumgartner, K. Hinderhofer, 2015, Clinical genetics.

Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria

C. Thiel, K. Tsiakas, S. Kölker, 2021, Journal of inherited metabolic disease.

An Infant With Ethylmalonic Encephalopathy Masquerading as a Hematologic Disorder

N. Gregersen, F. Athanassiadou-Piperopoulou, E. Pavlou, 2013, Journal of child neurology.

Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b(-/-) mice as a model for Wilson disease.

W. Stremmel, U. Merle, J. Okun, 2011, Biochimica et biophysica acta.

l-2-Hydroxyglutaric aciduria presenting with severe autistic features

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

Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria

N. Blau, G. Hoffmann, P. Burgard, 2018, Genetics in Medicine.

Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria

N. Blau, P. Burgard, S. Garbade, 2018, Genetics in Medicine.

Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort

S. Groeschel, I. Krägeloh-Mann, T. Haack, 2020, JIMD reports.

Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria

Elena Schnabel, S. Kölker, J. Okun, 2023, Nutrients.

Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome

G. Hoffmann, D. Haas, G. Hoffmann, 2006, Orphanet journal of rare diseases.

Inborn errors of cholesterol biosynthesis.

R. Kelley, D. Haas, 2003 .

Smith–Lemli–Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations

C. Fusch, J. Zschocke, L. Neumann, 2005, Journal of Inherited Metabolic Disease.

A mild phenotype of dihydropyrimidine dehydrogenase deficiency and developmental retardation associated with a missense mutation affecting cofactor binding.

A. Meindl, A. V. van Kuilenburg, E. Gross, 2011, Clinical biochemistry.

[L-2-hydroxyglutaric aciduria -- a rare cause of macrocephaly].

B. Kruse, C. Jakobs, A. Hahn, 2006, Klinische Padiatrie.

Aspartylglucosaminuria

I. Harting, C. Fischer, U. Moog, 2014, Journal of child neurology.