Literature DB >> 9842650

Triosephosphate isomerase deficiency in a child with congenital hemolytic anemia and severe hypotonia.

R E Linarello1, A K Shetty, T Thomas, R P Warrier.   

Abstract

A discussion of a 5-year-old child with congenital hemolytic anemia and severe hypotonia caused by triosephosphate (TPI) deficiency is presented. The complexities in the diagnosis and management of this condition is discussed and the relevant literature is reviewed.

Entities:  

Mesh：

Substances：

Year:  1998        PMID： 9842650     DOI： 10.3109/08880019809018318

Source DB:  PubMed          Journal:  Pediatr Hematol Oncol        ISSN： 0888-0018            Impact factor:   1.969


  2 in total

1.  Missense variant in TPI1 (Arg189Gln) causes neurologic deficits through structural changes in the triosephosphate isomerase catalytic site and reduced enzyme levels in vivo.

Authors:  Bartholomew P Roland; Kristen R Richards; Stacy L Hrizo; Samantha Eicher; Zackery J Barile; Tien-Chien Chang; Grace Savon; Paola Bianchi; Elisa Fermo; Bianca Maria Ricerca; Luca Tortorolo; Jerry Vockley; Andrew P VanDemark; Michael J Palladino
Journal:  Biochim Biophys Acta Mol Basis Dis       Date:  2019-05-07       Impact factor: 5.187

2.  Structural analysis on mutation residues and interfacial water molecules for human TIM disease understanding.

Authors:  Zhenhua Li; Ying He; Qian Liu; Liang Zhao; Limsoon Wong; Chee Keong Kwoh; Hung Nguyen; Jinyan Li
Journal:  BMC Bioinformatics       Date:  2013-10-22       Impact factor: 3.169
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.