Zellweger spectrum disorders: clinical overview and management approach

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

The stability of hexacosanoyl lysophosphatidylcholine in dried-blood spot quality control materials for X-linked adrenoleukodystrophy newborn screening

(2015) Christopher A. Haynes et al.   CLINICAL BIOCHEMISTRY

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

Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study

(2014) Björn M. van Geel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The Pex1-G844D mouse: A model for mild human Zellweger spectrum disorder

(2014) Shandi Hiebler et al.   MOLECULAR GENETICS AND METABOLISM

High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders

(2014) Kevin Berendse et al.   Orphanet Journal of Rare Diseases

Peroxisome biogenesis in mammalian cells

(2014) Yukio Fujiki et al.   Frontiers in Physiology

Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives

(2013) Nancy E. Braverman et al.   Developmental Disabilities Research Reviews

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder

(2013) Kevin Berendse et al.   Orphanet Journal of Rare Diseases

A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population

(2012) Sebastien Levesque et al.   BMC Medical Genetics

MRI as diagnostic tool in early-onset peroxisomal disorders

(2012) M.S. van der Knaap et al.   NEUROLOGY

Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?

(2010) A. Poulos et al.   CLINICAL GENETICS

Physiological and tissue-specific vectors for treatment of inherited diseases

(2010) M G Toscano et al.   GENE THERAPY

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

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

Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism

(2010) Paul P. Van Veldhoven   JOURNAL OF LIPID RESEARCH

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

Docosahexaenoic acid therapy in peroxisomal diseases: Results of a double-blind, randomized trial

(2010) A. M. Paker et al.   NEUROLOGY

Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds

(2010) R. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Effect of dietary Lorenzo's oil and docosahexaenoic acid treatment for Zellweger syndrome

(2009) Yasuhiro Arai et al.   CONGENITAL ANOMALIES

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts

(2009) S. J. Steinberg et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Toxicity of peroxisomal C27-bile acid intermediates

(2009) Sacha Ferdinandusse et al.   MOLECULAR GENETICS AND METABOLISM

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