(Q46570501)

23 December 2017

title

Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts (English)

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90066-I

4 December 2022

1 reference

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90066-I

4 December 2022

1 reference

Maria Clara Pereira Sá Miranda

7

object named as

M. C. Sa Miranda

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1829642

4 December 2022

author name string

S. Van Weely

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1829642

4 December 2022

M. B. Van Leeuwen

2

1 reference

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4 December 2022

I. D. Jansen

3

1 reference

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4 December 2022

M. A. De Bruijn

4

1 reference

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4 December 2022

E. M. Brouwer-Kelder

5

1 reference

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4 December 2022

A. W. Schram

6

1 reference

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4 December 2022

J. A. Barranger

8

1 reference

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4 December 2022

E. M. Petersen

9

1 reference

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4 December 2022

J. Goldblatt

10

1 reference

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4 December 2022

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1829642

4 December 2022

publication date

1 June 1991

1 reference

23 December 2017

5 June 1991

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1829642

full work available at URL

4 December 2022

https://api.elsevier.com/content/article/PII:092544399190066I?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90066-I

https://api.elsevier.com/content/article/PII:092544399190066I?httpAccept=text/plain

4 December 2022

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90066-I

Biochimica et Biophysica Acta

4 December 2022

published in

1 reference

23 December 2017

volume

1096

1 reference

23 December 2017

issue

4

1 reference

23 December 2017

page(s)

301-311

1 reference

23 December 2017

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

cites work

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1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90066-I

A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

4 December 2022

4

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90066-I

Prediction of severity of Gaucher's disease by identification of mutations at DNA level

4 December 2022

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1 reference

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Monoclonal antibodies against human beta-glucocerebrosidase

4 December 2022

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The occurrence of two immunologically distinguishable beta-glucocerebrosidases in human spleen

4 December 2022

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Conditions affecting the activity of glucocerebrosidase purified from spleens of control subjects and patients with type 1 Gaucher disease

4 December 2022

16

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Comparative study on glucocerebrosidase in spleens from patients with Gaucher disease

4 December 2022

17

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90066-I

Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts

4 December 2022

18

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90066-I

Efficient routing of glucocerebrosidase to lysosomes requires complex oligosaccharide chain formation.

4 December 2022

19

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90066-I

Enzymic differentiation of neurologic and nonneurologic forms of Gaucher's disease

4 December 2022

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Function of oligosaccharide modification in glucocerebrosidase, a membrane-associated lysosomal hydrolase

4 December 2022

22

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90066-I

Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry

4 December 2022

23

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90066-I

4 December 2022

Glucosidases

24

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90066-I

Genetic heterogeneity in Gaucher disease: physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients

4 December 2022

25

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90066-I

Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form

4 December 2022

28

1 reference

https://api.crossref.org/works/10.1016/0925-4439(91)90066-I

4 December 2022

Identifiers

1 reference

23 December 2017

1 reference

23 December 2017