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Paper Title
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.
PubMed
Paper Journal Title
Genet Med
Paper Citation Count
37
Paper Publication Year
2020
Bio Mention
CDG, CONCLUSIONS Oral D, D-galactose, Galactose, Golgi UDP-galactose transporter, Patients, SLC35A2, SLC35A2-CDG, UDP, Xp11, congenital disorder of glycosylation, developmental disability, dysmorphism, epilepsy, epileptic encephalopathy, galactose, galactose deficiency, gastrointestinal symptoms, growth deficiency, patient, patients
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Author Name
Affiliation
Fernando Scaglia
Baylor College of Medicine
Fernando Scaglia
Texas Children's Hospital
Fernando Scaglia
Prince of Wales Hospital
Andrew C Edmondson
Children's Hospital of Philadelphia
Miao He
Children's Hospital of Philadelphia
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