New CTSA mutation in early infantile galactosialidosis-Reference-Cited by-同舟云学术

New CTSA mutation in early infantile galactosialidosis

Published:2018-07-10 Issue:8 Volume:60 Page:761-762
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatrics International

Author:

Aldámiz-Echevarría Luis¹^ORCID,Couce M. Luz²,Villate Olatz¹,Fernández-Marmiesse Ana²,Piñán M. Ángeles³

Affiliation:

1. Unit of Metabolism; Cruces University Hospital; BioCruces Health Research Institute; GCV-CIBER de Enfermedades Raras (CIBERER); Barakaldo Spain

2. Unit of Diagnosis and Treatment of Congenital Metabolic Diseases; Department of Pediatrics; University Clinical Hospital of Santiago de Compostela; CIBERER, Health Research Institute of Santiago de Compostela (IDIS); A Coruña Spain

3. Service of Hematology and Hemotherapy; Cruces University Hospital; Barakaldo Spain

Publisher

Wiley

Subject

Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ped.13604/fullpdf

Reference5 articles.

1. Molecular defect in combined beta-galactosidase and neuraminidase deficiency in man;d'Azzo;Proc. Natl Acad. Sci. USA,1982

2. The relation between human lysosomal beta-galactosidase and its protective protein;Hoogeveen;J. Biol. Chem.,1983

3. The Human Gene Mutation Database: Towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies;Stenson;Hum. Genet.,2017

4. Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria;Darin;Eur. J. Paediatr. Neurol.,2009

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3. Oligosaccharidoses and Sialic Acid Disorders;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022

4. Fetal Storage Disorders;Benirschke's Pathology of the Human Placenta;2021-12-08

5. Infantile Galactosialidosis with Novel Mutation: An Early Presentation;Journal of Pediatric Genetics;2021-07-29