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Petra A. W. Mooyer

Observed names: Mooyer, P. A., P. A. W. Mooyer, P. Mooyer, P. W. Mooyer, Petra A Mooyer, Petra A W Mooyer, Petra A.W. Mooyer, Petra Mooyer
OpenAlex ID: A5073575516
A Lethal Defect of Mitochondrial and Peroxisomal Fission
2007 · Hans R. Waterham, Janet Koster, et al. · New England Journal of Medicine · 747
Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene
2003 · Hans R. Waterham, Janet Koster, et al. · The American Journal of Human Genetics · 218
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Clinical and biochemical spectrum of D‐bifunctional protein deficiency
2005 · Sacha Ferdinandusse, Simone Denis, et al. · Annals of Neurology · 200
ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism
2016 · Sacha Ferdinandusse, Kim D Falkenberg, et al. · Journal of Medical Genetics · 120
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Plasmalogens participate in very-long-chain fatty acid-induced pathology
2008 · P. Brites, P. A. W. Mooyer, et al. · Brain · 112
Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage
2005 · Isidre Ferrer, Josef P. Kapfhammer, et al. · Human Molecular Genetics · 105
A key role for the peroxisomalABCD2transporter in fatty acid homeostasis
2008 · Stéphane Fourcade, Montserrat Ruiz, et al. · American Journal of Physiology-Endocrinology and Metabolism · 103
Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy
2004 · Stephan Kemp, Fredoen Valianpour, et al. · Molecular Genetics and Metabolism · 96
Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency
2012 · Hugh J McMillan, Thea Worthylake, et al. · Orphanet Journal of Rare Diseases · 75
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Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families
2002 · W. J. Kleijer, V. H. Garritsen, et al. · Journal of Inherited Metabolic Disease · 43
Method for Measurement of Peroxisomal Very-Long-Chain Fatty Acid β-Oxidation in Human Skin Fibroblasts Using Stable-Isotope-Labeled Tetracosanoic Acid
2004 · Stephan Kemp, Fredoen Valianpour, et al. · Clinical Chemistry · 40
ALDP expression in fibroblasts of patients with X‐linked adrenoleukodystrophy
1995 · S. Kemp, P. A. W. Mooyer, et al. · Journal of Inherited Metabolic Disease · 37
d ‐2‐Hydroxyglutaric acidaemia: identification of a new enzyme, d ‐2‐hydroxyglutarate dehydrogenase, localized in mitochondria
1995 · R. J. A. Wanders, P. Mooyer · Journal of Inherited Metabolic Disease · 25
Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines
2008 · Merel S. Ebberink, Petra A.W. Mooyer, et al. · Human Mutation · 22
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Atypical Refsum disease with pipecolic acidemia and abnormal catalase distribution
2000 · M. R. Baumgartner, G. A. Jansen, et al. · Annals of Neurology · 15
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene
2021 · Stephanie I. W. van de Stadt, Petra A. W. Mooyer, et al. · Genes · 14
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X‐linked adrenoleukodystrophy: Improved prenatal diagnosis using both biochemical and immunological methods
1998 · R. J. A. Wanders, P. W. Mooyer, et al. · Journal of Inherited Metabolic Disease · 13
Identification of fatty acid oxidation disorder patients with lowered acyl‐CoA thioesterase activity in human skin fibroblasts
2005 · M. C. Hunt, J. Ruiter, et al. · European Journal of Clinical Investigation · 10
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The IMP dehydrogenase inhibitor mycophenolic acid antagonizes the CTP synthetase inhibitor 3-deazauridine in MOLT-3 human leukemia cells: A central role for phosphoribosyl pyrophosphate
1995 · A.André Van Berg, Petra A.W. Mooyer, et al. · Biochemical Pharmacology · 3
Corrigendum to “Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy” [Mol. Genet. Metab. 84 (2005) 144–151]
2008 · Stephan Kemp, Fredoen Valianpour, et al. · Molecular Genetics and Metabolism · 1
Works count: 22
Citation count: 2,001
H-index: 15
I10-index: 18
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