Identification of two novel TPK1 gene mutations in a Chinese patient with thiamine pyrophosphokinase deficiency undergoing whole exome sequencing

Severe lactic acidosis in an extremely low birth weight infant due to thiamine deficiency

(2018) Hulya Ozdemir et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations

(2014) Siddharth Banka et al.   MOLECULAR GENETICS AND METABOLISM

Identification of four SLC19A2 mutations in four Chinese thiamine responsive megaloblastic anemia patients without diabetes

(2013) Gang Liu et al.   BLOOD CELLS MOLECULES AND DISEASES

Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway

(2011) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Thiamine-Responsive Megaloblastic Anemia Syndrome With Atrial Standstill

(2011) Zehra Aycan et al.   JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY

Mutations in a Thiamine-Transporter Gene and Wernicke's-like Encephalopathy

(2009) Satoshi Kono et al.   NEW ENGLAND JOURNAL OF MEDICINE