Ascites in infantile onset type <scp>II</scp> Sialidosis-Reference-Cited by-同舟云学术

Ascites in infantile onset type II Sialidosis

Published:2022-06-03 Issue:4 Volume:63 Page:316-321
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Tazi Kaoutar¹^ORCID,Guy‐Viterbo Vanessa²,Gheldof Alexander³,Empain Aurélie⁴,Paternoster Anne⁵,De Laet Corinne⁴

Affiliation:

1. Paediatric Department Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles Avenue Jean Joseph Crocq 15, 1020 Brussels Belgium

2. Pediatric Intensive Care Unit Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles Avenue Jean Joseph Crocq 15, 1020 Brussels Belgium

3. Center for Medical Genetics Universitair Ziekenhuis Brussel, Vrije Universiteit Brussel Avenue du Laerbeek 101, 1090 Brussels Belgium

4. Nutrition and Metabolic Unit Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles Avenue Jean Joseph Crocq 15, 1020 Brussels Belgium

5. Paediatric Department Centre Hospitalier EpiCURA Route de Mons 63, 7301 Hornu Belgium

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12305

Reference25 articles.

1. Parental Whole-Exome Sequencing Enables Sialidosis Type II Diagnosis due to an NEU1 Missense Mutation as an Underlying Cause of Nephrotic Syndrome in the Child

2. Clinical variability of type II sialidosis by C808T mutation

3. Sialidosis: a review of human neuraminidase deficiency;Lowden JA;Am J Hum Genet,1979

4. Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis.

5. Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis

Cited by 2 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. Gut Microbial Sialidases and Their Role in the Metabolism of Human Milk Sialylated Glycans;International Journal of Molecular Sciences;2023-06-10

2. Neuraminidase 1 promotes renal fibrosis development in male mice;Nature Communications;2023-03-27