PREDICTION OF SEVERITY OF GAUCHER'S DISEASE BY IDENTIFICATION OF MUTATIONS AT DNA LEVEL-Reference-Cited by-同舟云学术

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PREDICTION OF SEVERITY OF GAUCHER'S DISEASE BY IDENTIFICATION OF MUTATIONS AT DNA LEVEL

Published:1989-08 Issue:8659 Volume:334 Page:349-352
ISSN:0140-6736
Container-title:The Lancet
language:en
Short-container-title:The Lancet

Author:

Zimran A.,Gross E.,West C.,Sorge J.,Kubitz M.,Beutler E.

Publisher

Elsevier BV

Subject

General Medicine

Reference25 articles.

1. Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease;Brady;J Clin Invest,1966

2. Glucosylceramide lipidosis: Gaucher's disease;Brady,1983

3. Gaucher disease: a centuiry of delineation and understanding;Desnick,1982

4. Gaucher's disease in an asymptomatic 72 year old;Beutler;JAMA,1977

5. Gaucher disease;Beutler,1979

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1. Noninvasive DBS-Based Approaches to Assist Clinical Diagnosis and Treatment Monitoring of Gaucher Disease;Biomedicines;2023-09-29

2. An observational study to investigate the relationship between plasma glucosylsphingosine (lyso-Gb1) concentration and treatment outcomes of patients with Gaucher disease in Japan;Orphanet Journal of Rare Diseases;2022-11-03

3. Platelet Activation and Reactivity in a Large Cohort of Patients with Gaucher Disease;Thrombosis and Haemostasis;2021-09-10

4. Impact of Long-Term Enzyme Replacement Therapy on Glucosylsphingosine (Lyso-Gb1) Values in Patients with Type 1 Gaucher Disease: Statistical Models for Comparing Three Enzymatic Formulations;International Journal of Molecular Sciences;2021-07-19

5. Risk of postpartum hemorrhage in multiparous women with Gaucher disease: A call for reconsidering enzyme replacement therapy in all pregnant patients;Journal of Inherited Metabolic Disease;2021-05-05

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