Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders

Simultaneous quantitation of hexacosanoyl lysophosphatidylcholine, amino acids, acylcarnitines, and succinylacetone during FIA–ESI–MS/MS analysis of dried blood spot extracts for newborn screening

(2016) Christopher A. Haynes et al.   CLINICAL BIOCHEMISTRY

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia

(2016) Mathilde Renaud et al.   JOURNAL OF NEUROLOGY

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders

(2016) Sacha Ferdinandusse et al.   NEUROPEDIATRICS

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

(2015) Ilham Ratbi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood

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

Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines

(2015) B.H. Vogel et al.   MOLECULAR GENETICS AND METABOLISM

Zellweger spectrum disorders: clinical overview and management approach

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

A novel defect of peroxisome division due to a homozygous non-sense mutation in thePEX11βgene

(2012) Merel S Ebberink et al.   JOURNAL OF MEDICAL GENETICS

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

(2011) Caroline Sevin et al.   Orphanet Journal of Rare Diseases

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

(2010) M. S. Ebberink et al.   JOURNAL OF MEDICAL GENETICS

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): Validation of a combined liquid chromatography–tandem mass spectrometric (LC–MS/MS) method

(2009) Walter C. Hubbard et al.   MOLECULAR GENETICS AND METABOLISM

Urine acylcarnitine analysis by ESI–MS/MS: A new tool for the diagnosis of peroxisomal biogenesis disorders

(2008) Guglielmo Duranti et al.   CLINICA CHIMICA ACTA