Clinical characteristics and long-term outcomes of patients with glycogen storage disease type 1b: a retrospective multi-center experience in Poland

Glycogen storage disease type 1b (GSD 1b) is an inherited metabolic defect caused by a deficiency of microsomal glucose-6-phosphate (G6P) transport protein across the endoplasmic reticulum membrane. Patients with GSD 1b have hypoglycemia episodes, lactate acidosis, hypertriglyceridemia, hypercholest...

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Detalles Bibliográficos
Autores principales: Kaczor, Magdalena, Wesół-Kucharska, Dorota, Greczan, Milena, Kierus, Karolina, Kałużny, Łukasz, Duś-Żuchowska, Monika, Emczyńska-Seliga, Ewa Ehmke vel, Ciara, Elżbieta, Książyk, Janusz, Rokicki, Dariusz
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2022
Materias:
Original paper | Praca oryginalna
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10214975/
https://www.ncbi.nlm.nih.gov/pubmed/35620924
http://dx.doi.org/10.5114/pedm.2022.116115

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10214975/
https://www.ncbi.nlm.nih.gov/pubmed/35620924
http://dx.doi.org/10.5114/pedm.2022.116115

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