Triosephosphate Isomerase Deficiency in a Child with Congenital Hemolytic Anemia and Severe Hypotonia
Author:
Publisher
Informa UK Limited
Subject
Oncology,Hematology,Pediatrics, Perinatology, and Child Health
Link
http://www.tandfonline.com/doi/pdf/10.3109/08880019809018318
Reference10 articles.
1. Hereditary Hemolytic Anemia with Triosephosphate Isomerase Deficiency
2. Triosephosphate isomerase deficiency: Repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families
3. Genetic and non-genetic variation of triose phosphate isomerase isozymes in human tissues
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5. Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo;Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease;2019-09
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