The Clinical and Molecular Spectrum of GM1 Gangliosidosis-Reference-Cited by-同舟云学术

The Clinical and Molecular Spectrum of GM1 Gangliosidosis

Published:2019-12 Issue: Volume:215 Page:152-157.e3
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Arash-Kaps Laila,Komlosi Katalin,Seegräber Marlene,Diederich Stefan,Paschke Eduard,Amraoui Yasmina,Beblo Skadi,Dieckmann Andrea,Smitka Martin,Hennermann Julia B.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference31 articles.

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2. Clinical and molecular heterogeneity in hereditary beta-galactosidase deficiency;Suzuki;Dev Neurosci,1991

3. GLB1-related disorders;Regier,1993

4. Clinical findings and natural history in ten unrelated families with juvenile and adult GM1 gangliosidosis;Kannebley;JIMD Rep,2015

5. Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene;Karimzadeh;BMC Med Genet,2017

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1. Validation of high-sensitivity assays to quantitate cerebrospinal fluid and serum β-galactosidase activity in patients with GM1-gangliosidosis;Molecular Therapy - Methods & Clinical Development;2024-09

2. A GLB1 transgene with enhanced therapeutic potential for the preclinical development of ex-vivo gene therapy to treat mucopolysaccharidosis type IVB;Molecular Therapy - Methods & Clinical Development;2024-09

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

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

5. Natural history of GM1 gangliosidosis—Retrospective cohort study of 61 French patients from 1998 to 2019;Journal of Inherited Metabolic Disease;2023-07-11