Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C-Reference-Cited by-同舟云学术

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Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C

Published:2001-09 Issue:5 Volume:3 Page:343-348
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Meiner Vardiella,Shpitzen Shoshi,Mandel Hanna,Klar Aharon,Ben-Neriah Ziva,Zlotogora Joël,Sagi Michal,Lossos Alex,Bargal Ruth,Sury Vivy,Carmi Rivka,Leitersdorf Eran,Zeigler Marsha

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference31 articles.

1. Niemann-Pick disease type C: a lipid trafficking disorder;Patterson;The metabolic and molecular bases of inherited disease,2001

Cited by 28 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. Familial Alzheimer’s disease associated with heterozygousNPC1mutation;Journal of Medical Genetics;2023-11-21

2. Niemann–Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene;BMC Medical Genomics;2021-09-17

3. Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain;PLOS Computational Biology;2020-10-06

4. A progressive neurological condition with acquired sea-blue histiocytosis further the diagnosis of Niemann-Pick type C1 in a 10-year-old boy;Indian Journal of Pathology and Microbiology;2020

5. Cholesterol binding to the sterol-sensing region of Niemann Pick C1 protein confines dynamics of its N-terminal domain;2019-11-25

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