Clinical spectrum and outcome of nine patients with a novel genetic variant of galactosialidosis in the <scp>Kingdom of Bahrain</scp>-Reference-Cited by-同舟云学术

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Clinical spectrum and outcome of nine patients with a novel genetic variant of galactosialidosis in the Kingdom of Bahrain

Published:2022-09-04 Issue:6 Volume:63 Page:614-620
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Alsahlawi Zahra¹²^ORCID,Aljishi Emtithal¹^ORCID,Kheyami Ammar¹^ORCID,Alekri Ahmed¹^ORCID,Alwedaie Sayed Mohammed Jawad³^ORCID

Affiliation:

1. Metabolic Diseases and Clinical Genetic, Department of Paediatrics Salmaniya Medical Complex Manama Kingdom of Bahrain

2. Department of Paediatrics Arabian Gulf University Manama Kingdom of Bahrain

3. Royal College of Surgeons in Ireland–Medical University of Bahrain Busaiteen Kingdom of Bahrain

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12330

Reference12 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. Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis—A cross‐sectional study

4. Inflammatory arthritis complicating galactosialidosis: a case report

5. AAV-mediated gene therapy for galactosialidosis: A long-term safety and efficacy study

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