[ 13 C ]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis-Reference-Cited by-同舟云学术

[ 13 C ]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis

Published:2021-02-03 Issue:1 Volume:59 Page:104-109
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Ficicioglu Can¹,Demirbas Didem²,Derks Britt³⁴,Pai G. Shashidhar⁵,Timson David J.⁶,Rubio‐Gozalbo Maria Estela³⁴,Berry Gerard T.²^ORCID

Affiliation:

1. Department of Pediatrics, Section of Biochemical Genetics The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine Philadelphia Pennsylvania USA

2. Division of Genetics and Genomics, The Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA

3. Department of Pediatrics Maastricht University Medical Centre Maastricht The Netherlands

4. Department of Clinical Genetics Maastricht University Medical Centre Maastricht The Netherlands

5. Medical University of South Carolina Children's Health, Division of Genetics Charleston South Carolina USA

6. School of Pharmacy and Biomolecular Sciences University of Brighton Brighton UK

Funder

National Institutes of Health

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12205

Reference28 articles.

1. Biallelic GALM pathogenic variants cause a novel type of galactosemia

2. Clinical features of galactokinase deficiency:A review of the literature

3. Features and outcome of galactokinase deficiency in children diagnosed by newborn screening

4. Galactokinase deficiency: lessons from the GalNet registry

5. Hepatic uptake and metabolism of galactose can be quantified in vivo by 2-[18F]fluoro-2-deoxygalactose positron emission tomography