Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia-Report on Two Patients Carrying a Novel SLC19A2 Gene Mutation

Uroic, AS; Milenkovic, D; De Franco, E; Bilic, E; Putarek, NR; Krnic, N

Uroic, AS (通讯作者)，Clin Hosp Ctr Zagreb, Dept Pediat, Div Pediat Endocrinol & Diabet, Kispaticeva 12, Zagreb 10000, Croatia.

JOURNAL OF PEDIATRIC GENETICS, 2022; 11 (3): 236

Abstract

Thiamine-responsive megaloblastic anemia ( TRMA) is an autosomal recessive disorder characterized by the development of megaloblastic anemia, diabetes......

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