Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis—A cross‐sectional study-Reference-Cited by-同舟云学术

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis—A cross‐sectional study

Published:2019-01-28 Issue:2 Volume:42 Page:295-302
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Sláma Tomáš¹²,Garbade Sven F.³,Kölker Stefan³,Hoffmann Georg F.³,Ries Markus³^ORCID

Affiliation:

1. Department of PediatricsUniversity Children's Hospital Bern, University of Bern Bern Switzerland

2. University Hospital of Child and Adolescent Psychiatry and PsychotherapyUniversity of Bern Bern Switzerland

3. Division of Pediatric Neurology and Metabolic Medicine, Center for Pediatric and Adolescent MedicineHeidelberg University Hospital Heidelberg Germany

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12010

Reference18 articles.

1. Macular Cherry-Red Spot, Corneal Clouding, and ß-Galactosidase Deficiency

2. Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria

3. Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20

4. Macular cherry-red spots and myoclonus with dementia: Coexistent neuraminidase and β-galactosidase deficiencies

5. Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis [published erratum appears in Hum Mol Genet 1997 Jan;6(1):146]

Cited by 22 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. Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases;Journal of Clinical Medicine;2024-03-02

2. Metabolic diseases;Translational Glycobiology in Human Health and Disease;2024

3. Lysosomal sialidase NEU1, its intracellular properties, deficiency, and use as a therapeutic agent;Glycoconjugate Journal;2023-12

4. Galactosialidosis (GSL);Genetic Syndromes;2023

5. Quantitative longitudinal natural history of 8 gangliosidoses—conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis;Genetics in Medicine;2022-12