Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis-Reference-Cited by-同舟云学术

Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis

Published:2018-05 Issue:5 Volume:40 Page:383-390
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Lee Jin Sook,Choi Jong-Moon,Lee Moses,Kim Soo Yeon,Lee Sangmoon,Lim Byung Chan,Cheon Jung-Eun,Kim In-One,Kim Ki Joong,Choi Murim,Seong Moon-Woo,Chae Jong-Hee

Funder

KHIDI

Ministry of Health & Welfare, Republic of Korea

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference31 articles.

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3. Population analysis of the GLB1 gene in South Brazil;Baiotto;Genet Mol Biol,2011

4. Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population;Sinigerska;Mol Genet Metab,2006

5. Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis;Sperb;Gene,2013

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1. GM1 gangliosidosis type II: Results of a 10-year prospective study;Genetics in Medicine;2024-07

2. Congenital Heart Malformations Masked by Infantile Gangliosidosis—Case Report and Growing Evidence for Metabolic Disease-Associated Aortopathies;Diagnostics;2024-02-24

3. GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study;2024-01-04

4. Exploring Pro-Inflammatory Immunological Mediators: Unraveling the Mechanisms of Neuroinflammation in Lysosomal Storage Diseases;Biomedicines;2023-04-01

5. Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients;Balkan Medical Journal;2022-09-09