• <em>PEX6</em> Mutation in a Child with Infantile Refsum Disease-A Case Report and Literature Review
• A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype
• A novel peroxisomal enzyme, D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein: its expression in the developing human brain
• A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C
• A temperature-sensitive CHO pex1 mutant with a novel mutation in the AAA Walker A1 motif
• Acute Late-Onset Cirrhosis in Zellweger Spectrum Disorder
• Adult onset seizures in learning disability
• Allogeneic Hematopoietic Stem Cell Transplantation for PEX1-Related Zellweger Spectrum Disorder: A Case Report and Literature Review
• AthPEX10, a nuclear gene essential for peroxisome and storage organelle formation during Arabidopsis embryogenesis
• Audiological findings in Infantile Refsum disease
• Biochemical markers predicting survival in peroxisome biogenesis disorders
• Catalase-less peroxisomes. Implication in the milder forms of peroxisome biogenesis disorder
• Child neurology: Zellweger syndrome
• Clinical approach to inherited peroxisomal disorders: a series of 27 patients
• Clinical symptoms of generalized peroxisomal disorders
• Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders
• Conventional and advanced MR imaging in infantile Refsum disease
• Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders
• Development of a system adapted for the diagnosis and evaluation of peroxisomal disorders by measuring bile acid intermediates
• Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels
• Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease
• Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trial
• Enhanced expression of a-series gangliosides in fibroblasts of patients with peroxisome biogenesis disorders
• Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients
• Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation
• Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a <em>PEX3</em> defect: Case report and literature review
• Genotype-phenotype correlations in disorders of peroxisome biogenesis
• Hepatocyte transplantation for liver-based metabolic disorders
• Hepatocyte transplantation in a 4-year-old girl with peroxisomal biogenesis disease: technique, safety, and metabolic follow-up
• Histologic and ultrastructural features in early and advanced phases of Zellweger spectrum disorder (infantile Refsum disease)
• Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders
• Identification of a common PEX1 mutation in Zellweger syndrome
• Identification of novel mutations in PEX2, PEX6, PEX10, PEX12, and PEX13 in Zellweger spectrum patients
• Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism
• Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of leukotrienes
• Infantile Refsum disease
• Infantile Refsum disease in a young adult: case presentation and brief review
• Infantile refsum disease in four Amish sibs
• Infantile refsum disease with enamel defects: a case report
• Infantile refsum disease: case report
• Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels
• Infantile Refsum disease: serial evaluation with MRI
• Inherited disorders of fatty alcohol metabolism
• Late onset white matter disease in peroxisome biogenesis disorder
• Leber congenital amaurosis: diagnosis, follow-up and differential diagnosis
• Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up
• Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease
• Medical-dental findings and management of a child with infantile Refsum disease: a case report
• Molecular analysis of peroxisomal disorders
• MRI as diagnostic tool in early-onset peroxisomal disorders
• Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation
• Mutations in the peroxin Pex26p responsible for peroxisome biogenesis disorders of complementation group 8 impair its stability, peroxisomal localization, and interaction with the Pex1p x Pex6p complex
• Newly identified milder phenotype of peroxisome biogenesis disorder caused by mutated PEX3 gene
• Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders
• Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder
• Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder
• Novel PEX1 coding mutations and 5' UTR regulatory polymorphisms
• Novel PEX1 mutations and genotype-phenotype correlations in Australasian peroxisome biogenesis disorder patients
• Ophthalmic Diagnosis and Novel Management of Infantile Refsum Disease with Combination Docosahexaenoic Acid and Cholic Acid
• Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type
• Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus
• Peroxisomal disorders
• Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders
• Peroxisomal disorders: clinical and biochemical studies in 15 children and prenatal diagnosis in 7 families
• Peroxisomal hereditary metabolic disorders
• Peroxisome biogenesis disorders
• Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients
• Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives
• Peroxisome biogenesis disorders: genetics and cell biology
• PEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disorders
• PEX6 Mutation in a Child with Infantile Refsum Disease-A Case Report and Literature Review
• Pharmacological induction of peroxisomes in peroxisome biogenesis disorders
• Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction
• Phytanic acid attenuates insulin-like growth factor-1 activity via nitric oxide-mediated gamma-secretase activation in rat aortic smooth muscle cells: possible implications for pathogenesis of infantile Refsum disease
• Phytanic acid attenuates insulin-like growth factor-1 activity via nitric oxide-mediated γ-secretase activation in rat aortic smooth muscle cells: possible implications for pathogenesis of infantile Refsum disease
• Pipecolic acid induces oxidative stress in vitro in cerebral cortex of young rats and the protective role of lipoic acid
• Plasma and red blood cell fatty acids in peroxisomal disorders
• Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls
• Rare forms of autosomal recessive neurodegenerative ataxia
• Recent advances in liver transplantation for metabolic disease
• Refsum Disease
• Refsum Disease
• Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans
• Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis
• Temperature sensitivity in peroxisome assembly processes characterizes milder forms of peroxisome biogenesis disorders
• Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders
• Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): comparative study of PEX6 and PEX1
• The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency
• The complex clinical and genetic classification of inherited ataxias. II. Autosomal recessive ataxias
• The optimized use of gas chromatography-mass spectrometry and high performance liquid chromatography to analyse the serum bile acids of patients with metabolic cholestasis and peroxisomal disorders
• The Δ4-desaturation pathway for DHA biosynthesis is operative in the human species: differences between normal controls and children with the Zellweger syndrome
• Therapeutic developments in peroxisome biogenesis disorders
• Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders
• Use of electron microscopy when screening liver biopsies from neonates and infants: experience from a single tertiary children's hospital (1991-2017)
• Zellweger Spectrum Disorder
• Zellweger Spectrum Disorder
• Zellweger Syndrome
• Zellweger syndrome with severe malnutrition, immunocompromised state and opportunistic infections
• Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails
• Zellweger syndrome--a peroxisomal disease