Phenotypic expression in mucopolysaccharidosis VII. (Q33628587)

28 July 2017

Phenotypic expression in mucopolysaccharidosis VII. (English)

1 reference

28 July 2017

Fons John Marie Gabreëls

3

object named as

Gabreëls FJ

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28 July 2017

Bernsen PL

1

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28 July 2017

Wevers RA

2

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28 July 2017

Lamers KJ

4

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28 July 2017

Sonnen AE

5

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28 July 2017

Stekhoven JH

6

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28 July 2017

language of work or name

English

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publication date

1 June 1987

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Journal of Neurology, Neurosurgery and Psychiatry

28 July 2017

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28 July 2017

50

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28 July 2017

6

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28 July 2017

699-703

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OCCURRENCE OF URINARY ACID MUCOPOLYSACCHARIDES IN THE HURLER SYNDROME.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032073

Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032073

Postmortem observations on beta-glucuronidase deficiency presenting as hydrops fetalis.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032073

A -glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032073

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032073

Beta-glucuronidase deficiency. A heterogeneous mucopolysaccharidosis.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032073

Assignment of the structural gene for human beta glucuronidase to chromosome 7 and tetrameric association of subunits in the enzyme molecule

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032073

Fabry's disease: biochemical and histochemical studies on hair roots for carrier detection

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032073

Beta-glucuronidase deficiency in a girl with unusual clinical features

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032073

Mucopolysaccharidesis Type VII resulting from beta-glucuronidase deficiency. Report of one family

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032073

Unusually mild course of beta-glucuronidase deficiency in two brothers (mucopolysaccharidosis VII)

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032073

Mucopolysaccharidosis type VII. A morphologic, cytochemical, and ultrastructural study of the blood and bone marrow.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032073

Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1032073

Two-dimensional electrophoresis of urinary mucopolysaccharides on cellulose acetate after N-cetylpyridiniumchloride (CPC) precipitation: a method suitable for the routine laboratory

30 October 2018

1 reference

12 December 2020

Chondroitin-6-sulfate mucopolysaccharidosis in conjuntion withlymphopenia, defective cellular immunity and the nephrotic syndrome

1 reference

12 December 2020

Genetic heterogeneity and allelic variation in the mucopolysaccharidoses. Introduction

1 reference

12 December 2020

The mucopolysaccharide of normal human urine

1 reference

12 December 2020

Variation in the phenotypic expression of beta-glucuronidase deficiency

1 reference

12 December 2020

Mucopolysaccharidosis VII (beta-glucuronidase deficiency) presenting as nonimmune hydrops fetalis

1 reference

12 December 2020

A new case of mucopolysaccharidosis type VII with major skeletal abnormalities

1 reference

12 December 2020

Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a report of a new case and a survey of those in the literature

1 reference

12 December 2020

[Mucopolysaccharidosis type VII. Clinical, radiological and biochemical studies in a neonatal case (author's transl)]

1 reference

12 December 2020

Identifiers

DOI

10.1136/JNNP.50.6.699

1 reference

28 July 2017

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28 July 2017

1 reference