Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups (Q71700951)

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20 October 2019

title

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

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20 October 2019

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A B Moser

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20 October 2019

M Rasmussen

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20 October 2019

S Naidu

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20 October 2019

P A Watkins

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20 October 2019

M McGuinness

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20 October 2019

A K Hajra

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20 October 2019

G Chen

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G Raymond

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A Liu

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D Gordon

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language of work or name

English

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publication date

1 July 1995

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The Journal of Pediatrics

20 October 2019

published in

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20 October 2019

volume

127

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issue

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page(s)

13-22

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Protein import into peroxisomes and biogenesis of the organelle

20 October 2019

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

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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

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Human alkyldihydroxyacetonephosphate synthase deficiency: a new peroxisomal disorder

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Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities

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7 January 2021

Identifiers

DOI

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20 October 2019

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