(Q51122559)

30 March 2018

title

Clinical, biochemical, and ultrastructural studies in a case of chondrodystrophy presenting the I-cell phenotype in tissue culture (English)

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30 March 2018

author name string

Tondeur M

1

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30 March 2018

Vamos-Hurwitz E

2

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30 March 2018

Mockel-Pohl S

3

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30 March 2018

Dereume JP

4

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30 March 2018

Cremer N

5

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30 March 2018

Loeb H

6

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30 March 2018

publication date

1 September 1971

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30 March 2018

The Journal of Pediatrics

language of work or name

English

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published in

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30 March 2018

volume

79

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30 March 2018

issue

3

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30 March 2018

page(s)

366-378

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30 March 2018

ELECTRON MICROSCOPY OF TWO CEREBRAL BIOPSIES IN GARGOYLISM

cites work

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Hurler's syndrome. Effect of retinol (vitamin A alcohol) on cellular mucopolysaccharides in cultured human skin fibroblasts

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The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide

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Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts

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Histochemical studies in Hurler's disease: a new method for localization of acid mucopolysaccharide, and an analysis of lead acetate "fixation"

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Hurler's syndrome: deficiency of a specific beta galactosidase isoenzyme

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Mutant enzymatic and cytological phenotypes in cultured human fibroblasts

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I-cell disease: a clinical picture

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Biochemical and ultrastructural studies in Hurler's syndrome

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Clinical, biochemical and ultrastructural studies of an atypical form of mucopolysaccharidosis

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Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture

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Lipid abnormalities in a variant of the Hurler syndrome

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The genetic mucopolysaccharidoses

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A GENERALISED STORAGE DISORDER RESEMBLING HURLER'S SYNDROME

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Delayed development of disturbed mucopolysaccharide metabolism in a Hurler variant

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DIAMINE METHODS FOR DIFFERENTIALING MUCOSUBSTANCES HISTOCHEMICALLY

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The genetic mucolipidoses. Diagnosis and differential diagnosis

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The Hurler syndrome without abnormal mucopolysacchariduria

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[Ultrastructural study of the liver in Morquio's disease]

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The abnormalities of lysosomal enzymes in mucopolysacc- haridoses

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10.1016/S0022-3476(71)80143-9

7 January 2021

Identifiers

DOI

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30 March 2018

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30 March 2018