Forme respiratoire néonatale létale de la maladie de Niemann-Pick C2 et diagnostic anténatal par l'étude des mutations du gène HE1/NPC2-Reference-Cited by-同舟云学术

Forme respiratoire néonatale létale de la maladie de Niemann-Pick C2 et diagnostic anténatal par l'étude des mutations du gène HE1/NPC2

Published:2005-04 Issue:4 Volume:12 Page:434-437
ISSN:0929-693X
Container-title:Archives de Pédiatrie
language:fr
Short-container-title:Archives de Pédiatrie

Author:

Morisot C.,Millat G.,Coeslier A.,Bourgois B.,Fontenoy E.,Dobbelaere D.,Verot L.,Haouari N.,Vaillant C.,Gottrand F.,Bogaert E.,Thelliez P.,Klosowski S.,Djebara A.,Bachiri A.,Manouvrier S.,Vanier M.T.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference14 articles.

1. Niemann-Pick disease type C;Vanier;Clin Genet,2003

2. Complementation studies in Niemann-Pick disease type C indicate the existence of a second group;Steinberg;J Med Genet,1994

3. Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis;Vanier;Am J Hum Genet,1996

4. Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis;Carstea;Science,1997

5. Identification of HE1 as the second gene of Niemann-Pick C disease;Naureckiene;Science,2000

Cited by 10 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. The Genetic Basis, Lung Involvement, and Therapeutic Options in Niemann–Pick Disease: A Comprehensive Review;Biomolecules;2024-02-11

2. Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease;International Journal of Molecular Sciences;2020-07-17

3. Pulmonary involvement in Niemann-Pick C type 1;European Journal of Pediatrics;2018-07-31

4. Ontogenic changes in lung cholesterol metabolism, lipid content, and histology in mice with Niemann–Pick type C disease;Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids;2014-01

5. Characterization of the Niemann-Pick C pathway in alveolar type II cells and lamellar bodies of the lung;American Journal of Physiology-Lung Cellular and Molecular Physiology;2012-05-01