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Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report

Abstract Glycogen Storage Disease Type Ib (GSD-Ib) is a rare autosomal recessive metabolic disorder caused by mutations in SLC37A4, leading to a deficiency in glucose-6-phosphate translocase. This disorder is characterized by impaired glycogenolysis and gluconeogenesis, resulting in clinical and met...

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Principais autores: Zakaria Kasmi, Imane Ain El Hayat, Zahra Aadam, Abderrahmane Errami, Ibtihal Benhsaien, Jalila EL Bakkouri, Dalal Ben Sabbahia, Meryem Atrassi, Ahmed Aziz Bousfiha, Fatima Ailal
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2025-01-01
coleção:BMC Medical Genomics
Assuntos:
GSD-Ib
Glucose-6-Phosphate
Neutropenia
SLC37A4
Case report
Acesso em linha:https://doi.org/10.1186/s12920-024-02057-5
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