Déficit en sphingomyélinase acide (maladie de Niemann-Pick B) : une étude rétrospective multicentrique de 28 patients adultes-Reference-Cited by-同舟云学术

Déficit en sphingomyélinase acide (maladie de Niemann-Pick B) : une étude rétrospective multicentrique de 28 patients adultes

Published:2017-05 Issue:5 Volume:38 Page:291-299
ISSN:0248-8663
Container-title:La Revue de Médecine Interne
language:fr
Short-container-title:La Revue de Médecine Interne

Author:

Lidove O.,Belmatoug N.,Froissart R.,Lavigne C.,Durieu I.,Mazodier K.,Serratrice C.,Douillard C.,Goizet C.,Cathebras P.,Besson G.,Amoura Z.,Tazi A.,Gatfossé M.,Rivière S.,Sené T.,Vanier M.T.,Ziza J.-M.

Publisher

Elsevier BV

Subject

Gastroenterology,Internal Medicine

Reference32 articles.

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2. The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study;Wasserstein;Pediatrics,2004

3. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B;McGovern;Pediatrics,2008

4. Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B;Wasserstein;J Inherit Metab Dis,2013

5. Morbidity and mortality in type B Niemann-Pick disease;McGovern;Genet Med,2013

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3. Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature;JIMD Reports;2024-01-02

4. Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B);Orphanet Journal of Rare Diseases;2023-04-17

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