Código QR (código de barras bidimensional)

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...

Fuld beskrivelse

Na minha lista:
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
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2025-01-01
Serier:BMC Medical Genomics
Fag:
GSD-Ib
Glucose-6-Phosphate
Neutropenia
SLC37A4
Case report
Online adgang:https://doi.org/10.1186/s12920-024-02057-5
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker