The many faces of peroxisomal disorders: Lessons from a large Arab cohort

“Role of peroxisomes in human lipid metabolism and its importance for neurological development”

(2017) Ronald J.A. Wanders et al.   NEUROSCIENCE LETTERS

Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden

(2016) Mohamed Abouelhoda et al.   GENETICS IN MEDICINE

Discovery of mutations for Mendelian disorders

(2016) Fowzan S. Alkuraya   HUMAN GENETICS

Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty Acids

(2016) Yuichi Yagita et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism

(2016) Sacha Ferdinandusse et al.   JOURNAL OF MEDICAL GENETICS

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

(2016) Nancy E. Braverman et al.   MOLECULAR GENETICS AND METABOLISM

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders

(2016) Sacha Ferdinandusse et al.   NEUROPEDIATRICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

(2015) Tuva Barøy et al.   HUMAN MOLECULAR GENETICS

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood

(2015) Kevin Berendse et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Zellweger spectrum disorders: clinical overview and management approach

(2015) Femke C. C. Klouwer et al.   Orphanet Journal of Rare Diseases

First Japanese case of Zellweger syndrome with a mutation inPEX14

(2015) Shoko Komatsuzaki et al.   PEDIATRICS INTERNATIONAL

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

(2015)   GENOME BIOLOGY

A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency

(2014) Rebecca Buchert et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

(2013) Fowzan S. Alkuraya   HUMAN GENETICS

The neurology of rhizomelic chondrodysplasia punctata

(2013) Annemieke M Bams-Mengerink et al.   Orphanet Journal of Rare Diseases

Adrenoleukodystrophy in Norway: High Rate of De Novo Mutations and Age-Dependent Penetrance

(2013) Morten A. Horn et al.   PEDIATRIC NEUROLOGY

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

(2012) L. Abu-Safieh et al.   GENOME RESEARCH

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs

(2010) R Shaheen et al.   CLINICAL GENETICS

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder

(2010) Merel S. Ebberink et al.   HUMAN MUTATION

Posttranslational Regulation of Fatty Acyl-CoA Reductase 1, Far1, Controls Ether Glycerophospholipid Synthesis

(2010) Masanori Honsho et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders

(2008) Osama Y. Al-Dirbashi et al.   JOURNAL OF LIPID RESEARCH