Functionalin vitro characterization of 14SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease-Reference-Cited by-同舟云学术

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Functionalin vitro characterization of 14SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease

Published:2005 Issue:2 Volume:26 Page:164-164
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Dardis Andrea,Zampieri Stefania,Filocamo Mirella,Burlina Alberto,Bembi Bruno,Gabriela Pittis Maria

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 35 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Newborn screening for acid sphingomyelinase deficiency in Illinois: A single center's experience;Journal of Inherited Metabolic Disease;2024-07-11

2. The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann–Pick Disease: A Comprehensive Review;Biomolecules;2024-02-11

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

5. SMPD1 expression profile and mutation landscape help decipher genotype–phenotype association and precision diagnosis for acid sphingomyelinase deficiency;Hereditas;2023-03-13

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