The first genetically confirmed Japanese patient with mucolipidosis type IV-Reference-Cited by-同舟云学术

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The first genetically confirmed Japanese patient with mucolipidosis type IV

Published:2016-04-13 Issue:5 Volume:4 Page:509-512
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Saijo Harumi¹,Hayashi Masaharu²,Ezoe Takanori¹,Ohba Chihiro³,Saitsu Hirotomo³,Kurata Kiyoko¹,Matsumoto Naomichi³

Affiliation:

1. Departments of Pediatrics Tokyo Metropolitan Higashiyamato Medical Center for developmental/multiple disabilities Tokyo Japan

2. Department of Brain Development and Neural Regeneration Tokyo Metropolitan Institute of Medical Science Tokyo Japan

3. Department of Human Genetics Graduate School of Medicine Yokohama City University Yokohama Japan

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.540

Reference12 articles.

1. Mucolipidosis Type IV

2. Protracted juvenile neuronal ceroid lipofuscinosis—An autopsy report and immunohistochemical analysis

3. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

4. Mucolipidosis type IV: An update

5. Mucolipidosis Type IV: A Subtle Pediatric Neurodegenerative Disorder

Cited by 8 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. A Novel Homozygous Variant in the MCOLN1 Gene Associated With Severe Oromandibular Dystonia and Parkinsonism;Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques;2024-03-27

2. Characterization of Endo-Lysosomal Cation Channels Using Calcium Imaging;Handbook of Experimental Pharmacology;2023

3. The High Association of Ophthalmic Manifestations in Individuals With Mucolipidosis Type IV;Journal of Pediatric Ophthalmology & Strabismus;2022-09

4. White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology;Metabolic Brain Disease;2021-05-08

5. Long‐term observation of a Japanese mucolipidosis IV patient with a novel homozygous p.F313del variant of MCOLN1;American Journal of Medical Genetics Part A;2020-03-27

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