Disease: Refsum disease- infantile form
- <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