SLC37A4‐CDG : Second patient-Reference-Cited by-同舟云学术

SLC37A4‐CDG : Second patient

Published:2021-01-06 Issue:1 Volume:58 Page:122-128
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Wilson Matthew P.¹^ORCID,Quelhas Dulce²,Leão‐Teles Elisa³,Sturiale Luisa⁴,Rymen Daisy⁵,Keldermans Liesbeth¹,Race Valérie¹,Souche Erika¹,Rodrigues Esmeralda³,Campos Teresa³,Van Schaftingen Emile⁶,Foulquier François⁷,Garozzo Domenico⁴,Matthijs Gert¹,Jaeken Jaak⁵

Affiliation:

1. Laboratory for Molecular Diagnosis Center for Human Genetics, KU Leuven Leuven Belgium

2. Centro de Genetica Medica Jacinto de Magalhaes, Centro Hospitalar Universitário de São João Porto Portugal

3. Centro de Referência de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário de São João Porto Portugal

4. CNR, Institute for Polymers, Composites and Biomaterials (IPCB) Catania Italy

5. Department of Pediatrics Center for Metabolic Diseases, University Hospitals Leuven Leuven Belgium

6. De Duve Institute, UCLouvain Brussels Belgium

7. Univ. Lille, CNRS, UMR 8576, UGSF, Unité de Glycobiologie Structurale et Fonctionnelle Lille France

Funder

College of Natural Resources and Sciences, Humboldt State University

Fonds Wetenschappelijk Onderzoek

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12195

Reference16 articles.

1. The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a

2. Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes

3. SLC37A4‐CDG: mislocalization of the glucose‐6‐phosphate transporter to the Golgi causes a new congenital disorder of glycosylation;Marquardt T;Mol Genet Metab Rep,2020

4. Diagnosis of Congenital Disorders of Glycosylation by Capillary Zone Electrophoresis of Serum Transferrin

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