Petra A. W. Mooyer

机构：Amsterdam University Medical Centers, Amsterdam Gastroenterology Endocrinology Metabolism, University of Amsterdam

发表论文 21 篇 · 总被引 2002 次 · h-index 15

代表论文

• A Lethal Defect of Mitochondrial and Peroxisomal Fission (2007 · New England Journal of Medicine · 被引 758)
• Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene (2003 · The American Journal of Human Genetics · 被引 217)
• Clinical and biochemical spectrum of D‐bifunctional protein deficiency (2005 · Annals of Neurology · 被引 197)
• ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism (2016 · Journal of Medical Genetics · 被引 121)
• Plasmalogens participate in very-long-chain fatty acid-induced pathology (2008 · Brain · 被引 113)
• Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage (2005 · Human Molecular Genetics · 被引 105)