Therapeutic Benefit of Blood Transfusion in a Patient With Novel PGK1 Mutation (c.461T>C [p.L154P])-Reference-Cited by-同舟云学术

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Therapeutic Benefit of Blood Transfusion in a Patient With Novel PGK1 Mutation (c.461T>C [p.L154P])

Published:2020-05 Issue:4 Volume:42 Page:e228-e230
ISSN:1077-4114
Container-title:Journal of Pediatric Hematology/Oncology
language:en
Short-container-title:

Author:

Ward Scott K.,Stevens Cathy A.,Keates-Baleeiro Jennifer,Bhakta Manoo

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Reference6 articles.

1. PGK deficiency;Buetler;Br J Hematol,2006

2. Localization of the translocation breakpoint in a female with Menkes syndrome to Xq13.2-q13.3 proximal to PGK1;Verga;Am J Hum Genet,1991

3. Structural and energetic basis of protein kinetic destabilization in human phosphoglycerate kinase 1 deficiency;Pey;Biochemistry,2013

4. Insights into human phosphoglycerate kinase 1 deficiency as a conformational disease from biochemical, biophysical, and in vitro expression analyses;Pey;J Inherited Metab Disease,2014

5. Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency;Tsujino;Muscle Nerve Suppl,1995

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review;Internal Medicine;2022-12-01

2. Recognition of a novel variant of phosphoglycerate kinase 1 deficiency PGK1 Galveston (c.472G > C) in a child with hemolytic anemia, neurologic dysfunction and myopathy;Pediatric Hematology and Oncology;2022-05-24

3. Terazosin Stimulates Pgk1 to Remedy Gastrointestinal Disorders;International Journal of Molecular Sciences;2021-12-30

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