Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis (Q34205101)

31 July 2017

title

Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis (English)

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31 July 2017

Sly WS

1

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31 July 2017

Quinton BA

series ordinal

2

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31 July 2017

McAlister WH

series ordinal

3

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31 July 2017

Rimoin DL

series ordinal

4

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31 July 2017

publication date

1 February 1973

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The Journal of Pediatrics

31 July 2017

language of work or name

English

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published in

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31 July 2017

volume

82

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31 July 2017

issue

2

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31 July 2017

page(s)

249-257

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The genetic mucopolysaccharidoses

31 July 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2873%2980162-3

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7 January 2021

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The defect in Hurler and Hunter syndromes. II. Deficiency of specific factors involved in mucopolysaccharide degradation

7 January 2021

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Inborn errors of mucopolysaccharide metabolism

7 January 2021

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A distinct biochemical deficit in the Maroteaux-Lamy syndrome (mucopolysaccharidosis VI)

7 January 2021

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Biochemical heterogeneity of the Sanfilippo syndrome: preliminary characterization of two deficient factors

7 January 2021

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Commonly used tests in the detection of Hurler's syndrome

7 January 2021

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Thin layer chromatography of urinary acid glycosaminoglycans as screening procedure for mucopolysaccharidoses

7 January 2021

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Metachromatic Leukodystrophy: Diagnosis with Samples of Venous Blood

7 January 2021

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p-Nitrophenyl-beta-glucuronide as substrate for beta-glucuronidase

7 January 2021

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Mutant enzymatic and cytological phenotypes in cultured human fibroblasts

7 January 2021

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I-cell disease: a clinical picture

7 January 2021

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

7 January 2021

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A mucopolysaccharidosis with increased urinary excretion of chondroitin-4 sulfate

7 January 2021

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Chondroitin-4-sulphate mucopolysaccharidosis--a new variant of Hurler's syndrome

7 January 2021

1 reference

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Chondroitin 4- and 6-sulfaturia in Morquio-Ullrich's syndrome

7 January 2021

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-glucuronidase activity in fibroblasts cultured from persons with and without cystic fibrosis

7 January 2021

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0022-3476(73)80162-3

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31 July 2017

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