(Q70994541)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598642%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

title

Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies (English)

1 reference

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15 October 2019

1 reference

4

1 reference

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15 October 2019

Johannes Aerts

7

1 reference

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15 October 2019

author name string

H Michelakakis

1

1 reference

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15 October 2019

E Dimitriou

2

1 reference

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15 October 2019

S Van Weely

3

1 reference

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15 October 2019

I Mavridou

5

1 reference

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15 October 2019

M Verhoek

6

1 reference

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15 October 2019

publication date

1 January 1995

1 reference

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Journal of Inherited Metabolic Disease

15 October 2019

published in

1 reference

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15 October 2019

volume

18

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15 October 2019

issue

5

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15 October 2019

page(s)

609-615

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https://scigraph.springernature.com/pub.10.1007/bf02436006

15 October 2019

exact match

0 references

cites work

Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene

1 reference

12 December 2020

Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Complex alleles of the acid beta-glucosidase gene in Gaucher disease

1 reference

12 December 2020

Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts

1 reference

12 December 2020

The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme

1 reference

12 December 2020

Isolation of cDNA clones for human beta-glucocerebrosidase using the lambda gt11 expression system

1 reference

12 December 2020

Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA

1 reference

12 December 2020

The facile detection of the nt 1226 mutation of glucocerebrosidase by 'mismatched' PCR.

1 reference

12 December 2020

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

1 reference

12 December 2020

Lysosomal storage diseases in Greece

1 reference

12 December 2020

Synthesis and use of novel fluorescent glycosphingolipids for estimating beta-glucosidase activity in vitro in the absence of detergents and subtyping Gaucher disease variants following administration into intact cells

1 reference

12 December 2020

Characterization of human glucocerebrosidase from different mutant alleles

1 reference

12 December 2020

Mutations in Jewish patients with Gaucher disease

1 reference

12 December 2020

Mutations causing Gaucher disease

1 reference

12 December 2020

Gaucher disease: genetic heterogeneity within and among the subtypes detected by immunoblotting

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF02436006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8598642%20AND%20SRC:MED&resulttype=core&format=json

15 October 2019

1 reference