Genotype/phenotype correlations in Gaucher's disease

Author:

Mistry PramodK.

Publisher

Elsevier BV

Subject

General Medicine

Reference9 articles.

1. The role of neurogenetics in Gaucher's disease;Brady;Arch Neurol,1993

2. Gaucher disease as a paradigm of current issues regarding single gene mutations of humans;Beutler;Proc Natl Acad Sci USA,1993

3. The glucocerebrosidase locus in Gaucher disease: molecular analysis of a lysosomal enzyme;Mistry;J Med Genet,1993

4. A mutation in human glucocerebrosidase gene in neuronopathic Gaucher's disease;Tsuji;N Engl J Med,1987

5. Phenotypic diversity of Gaucher disease in a pair of identical twins, 1994. Proceedings of First Workshop of European Working Group on Gaucher Disease;Mistry,1995

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1. Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease;International Journal of Molecular Sciences;2019-06-21

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3. Respiratory manifestations in patients with inherited metabolic diseases;European Respiratory Review;2013-11-29

4. TALIGLUCERASE ALFA FOR THE TREATMENT OF GAUCHER'S DISEASE;DRUG TODAY;2012

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