Gaucher disease: different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family. (Q36851679)

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1 January 2020

title

Gaucher disease: different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family (English)

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0 references

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Mohammad Zouheir Habbal

3

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Ali Taher

5

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4

Zaher K Otrock

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2

Jawad Makarem

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author name string

Lara M El-Zahabi

1

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Ali Shamseddine

6

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publication date

15 June 2007

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Molecular Genetics and Metabolism

1 January 2020

published in

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volume

91

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issue

4

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page(s)

402-404

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Prevalence of lysosomal storage disorders

1 January 2020

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Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease.

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Linkage to Gaucher mutations in the Ashkenazi population: effect of drift on decay of linkage disequilibrium and evidence for heterozygote selection

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Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient

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Phenotypic continuum in neuronopathic Gaucher disease: an intermediate phenotype between type 2 and type 3.

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Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles

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The 1226G (N370S) Gaucher mutation among patients with Legg-Calve-Perthes disease

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Type I Gaucher disease due to homozygosity for the 259T mutation in a Bedouin patient

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The glucocerebrosidase D409H mutation in Gaucher disease

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Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family.

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Five New Gaucher Disease Mutations

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Identification of two novel and four uncommon missense mutations among chinese Gaucher disease patients

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Six new Gaucher disease mutations

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Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease

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Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients

7 January 2021

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Twin pairs showing discordance of phenotype in adult Gaucher's disease

7 January 2021

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Skeletal complications of Gaucher disease

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Identifiers

DOI

10.1016/J.YMGME.2007.05.005

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1 January 2020

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