Impact of hematopoietic stem cell transplantation in glycogen storage disease type Ib: A single-subject research design using (13)C-glucose breath test

BACKGROUND: Glycogen storage disease type Ib (GSD Ib) is an autosomal recessively inherited deficiency of the glucose-6-phosphate translocase (G6PT). Clinical features include a combination of a metabolic phenotype (fasting hypoglycemia, lactic acidosis, hepatomegaly) and a hematologic phenotype wit...

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Detalles Bibliográficos
Autores principales: Turki, Abrar, Stockler, Sylvia, Sirrs, Sandra, Duddy, Kathleen, Ho, Gloria, Elango, Rajavel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9826966/
https://www.ncbi.nlm.nih.gov/pubmed/36632325
http://dx.doi.org/10.1016/j.ymgmr.2023.100955

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9826966/
https://www.ncbi.nlm.nih.gov/pubmed/36632325
http://dx.doi.org/10.1016/j.ymgmr.2023.100955

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