(Q34471655)

2 August 2017

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title

Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases? (English)

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2 August 2017

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Maire I

1

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2 August 2017

publication date

1 January 2001

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Journal of Inherited Metabolic Disease

2 August 2017

published in

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2 August 2017

volume

24 Suppl 2

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2 August 2017

page(s)

57-61; discussion 45-6

1 reference

https://scigraph.springernature.com/pub.10.1023/a:1012419823739

2 August 2017

exact match

0 references

cites work

Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype

1 reference

12 December 2020

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease

1 reference

12 December 2020

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

1 reference

12 December 2020

Introduction: molecular chaperones of the ER: their role in protein folding and genetic disease

1 reference

12 December 2020

Induced mouse models of abnormal sphingolipid metabolism

1 reference

12 December 2020

Partial enzyme deficiencies: residual activities and the development of neurological disorders

1 reference

12 December 2020

Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote

1 reference

12 December 2020

Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

1 reference

12 December 2020

Identification of factors regulating the expression of the human glucocerebrosidase gene

1 reference

12 December 2020

Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue

1 reference

12 December 2020

Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II

1 reference

12 December 2020

Cellular pathology of lysosomal storage disorders.

1 reference

12 December 2020

The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.

1 reference

12 December 2020

Expression of mutated glucocerebrosidase alleles in human cells

1 reference

12 December 2020

A 5-megabase familial deletion removes the IDS and FMR-1 genes in a male Hunter patient.

1 reference

12 December 2020

Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II

1 reference

12 December 2020

Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies.

1 reference

12 December 2020

"Pseudodeficiencies" of lysosomal hydrolases

1 reference

12 December 2020

Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation

1 reference

12 December 2020

Multiple polymorphisms within the alpha-L-iduronidase gene (IDUA): implications for a role in modification of MPS-I disease phenotype

1 reference

12 December 2020

Mouse models of human lysosomal diseases.

1 reference

12 December 2020

Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene

1 reference

12 December 2020

Epidermal abnormalities may distinguish type 2 from type 1 and type 3 of Gaucher disease.

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FA%3A1012419823739

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1023/A:1012419823739

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Dimensions Publication ID

2 August 2017

1017424745

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1 reference