(Q71700951)

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20 October 2019

title

Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups (English)

1 reference

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20 October 2019

1 reference

A B Moser

1

1 reference

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20 October 2019

M Rasmussen

2

1 reference

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20 October 2019

S Naidu

3

1 reference

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20 October 2019

P A Watkins

4

1 reference

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20 October 2019

M McGuinness

5

1 reference

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20 October 2019

A K Hajra

6

1 reference

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20 October 2019

G Chen

7

1 reference

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20 October 2019

G Raymond

8

1 reference

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20 October 2019

A Liu

9

1 reference

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20 October 2019

D Gordon

10

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20 October 2019

language of work or name

English

0 references

publication date

1 July 1995

1 reference

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The Journal of Pediatrics

20 October 2019

published in

1 reference

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20 October 2019

volume

127

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20 October 2019

issue

1

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20 October 2019

page(s)

13-22

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Protein import into peroxisomes and biogenesis of the organelle

20 October 2019

cites work

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Identification of peroxisomal targeting signals located at the carboxy terminus of four peroxisomal proteins

7 January 2021

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Peroxisomal membrane ghosts in Zellweger syndrome--aberrant organelle assembly

7 January 2021

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Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism

7 January 2021

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Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis

7 January 2021

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Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients

7 January 2021

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Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells

7 January 2021

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A human gene responsible for Zellweger syndrome that affects peroxisome assembly

7 January 2021

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Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders

7 January 2021

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Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome

7 January 2021

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Lysosomes of the arterial wall. I. Isolation and subcellular fractionation of cells from normal rabbit aorta

7 January 2021

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Presence of the peroxisomal 22-kDa integral membrane protein in the liver of a person lacking recognizable peroxisomes (Zellweger syndrome)

7 January 2021

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Peroxisome assembly mutations in humans: structural heterogeneity in Zellweger syndrome

7 January 2021

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The cerebrohepatorenal (Zellweger) syndrome: an improved method for the biochemical diagnosis and its potential value for prenatal detection

7 January 2021

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Peroxisomal fatty acid beta-oxidation in HepG2 cells

7 January 2021

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Deficiency of enzymes catalyzing the biosynthesis of glycerol-ether lipids in Zellweger syndrome. A new category of metabolic disease involving the absence of peroxisomes

7 January 2021

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Peroxisomal disorders: complementation analysis using beta-oxidation of very long chain fatty acids

7 January 2021

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Complementation analysis of patients with intact peroxisomes and impaired peroxisomal beta-oxidation

7 January 2021

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Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency

7 January 2021

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Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder

7 January 2021

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Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder

7 January 2021

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The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis

7 January 2021

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Zellweger Syndrome Amniocytes: Morphological Appearance and a Simple Sedimentation Method for Prenatal Diagnosis

7 January 2021

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Biochemical abnormalities in rhizomelic chondrodysplasia punctata

7 January 2021

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Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities

7 January 2021

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Cytosolic compartmentalization of hepatic alanine:glyoxylate aminotransferase in patients with aberrant peroxisomal biogenesis and its effect on oxalate metabolism

7 January 2021

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A new variant of Zellweger syndrome with normal peroxisomal functions in cultured fibroblasts

7 January 2021

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A new type of peroxisomal disorder with variable expression in liver and fibroblasts

7 January 2021

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Differential protein import deficiencies in human peroxisome assembly disorders

7 January 2021

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Antibodies directed against the peroxisomal targeting signal of firefly luciferase recognize multiple mammalian peroxisomal proteins

7 January 2021

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Myopathy in an infant with a fatal peroxisomal disorder

7 January 2021

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Isolated dihydroxyacetonephosphate acyltransferase deficiency presenting with developmental delay.

7 January 2021

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Clinical recognition of patients affected by a peroxisomal disorder: a retrospective study in 40 patients

7 January 2021

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Ataxia and peripheral neuropathy: a benign variant of peroxisome dysgenesis

7 January 2021

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Zellweger syndrome: diagnostic assays, syndrome delineation, and potential therapy.

7 January 2021

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Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes

7 January 2021

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Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy

7 January 2021

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Peroxisomal bifunctional enzyme deficiency

7 January 2021

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Heterogeneity of Chondrodysplasia punctata

7 January 2021

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Atypical riboflavin-responsive glutaric aciduria, and deficient peroxisomal glutaryl-CoA oxidase activity: a new peroxisomal disorder

7 January 2021

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Recent advances in the understanding, diagnosis and treatment of primary hyperoxaluria type 1.

7 January 2021

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10.1016/S0022-3476(95)70250-4

7 January 2021

Identifiers

DOI

1 reference

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20 October 2019

1 reference