Coinheritance of hereditary ellyptocytosis, pyruvate kinase, and glucose‐6‐phosphate dehidrogenase mutations. A rare anemia diagnostic paradigm-Reference-Cited by-同舟云学术

Coinheritance of hereditary ellyptocytosis, pyruvate kinase, and glucose‐6‐phosphate dehidrogenase mutations. A rare anemia diagnostic paradigm

Published:2019-09-20 Issue:2 Volume:42 Page:
ISSN:1751-5521
Container-title:International Journal of Laboratory Hematology
language:en
Short-container-title:Int J Lab Hem

Author:

Krishnevskaya Elena¹,Rizzuto Valeria¹,Payán‐Pernía Salvador²³,Remacha Ángel²³,Torrent Montserrat²³,Ruiz Anna⁴,Badell Isabel²³⁵,Vives Corrons Joan‐Lluis¹⁶^ORCID

Affiliation:

1. Red Cell Pathology and Hematopoietic Disorders Unit (Rare Anaemias Expert Centre) Institute for Leukaemia Research Josep Carreras (IJC) Badalona (Barcelona) Spain

2. CSUR (Reference Centre) for Hereditary Red Cell Pathology Hospital de la Santa Creu i Sant Pau Universitat Autonoma de Barcelona Barcelona Spain

3. Institut de Recerca Hospital de la Santa Creu i Sant Pau Universitat Autonoma de Barcelona Barcelona Spain

4. Department d'Hematologia Hospital de Sant Joan de Deu Universitat Autònoma de Barcelona Barcelona Spain

5. Department de Pediatria Hospital de la Santa Creu I Sant Pau Universitat Autònoma de Barcelona Barcelona Spain

6. Department de Medicina Universitat de Barcelona Barcelona Spain

Publisher

Wiley

Subject

Biochemistry (medical),Clinical Biochemistry,Hematology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ijlh.13110

Reference12 articles.

1. Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders

2. Elliptopoikilocytosis associated with the alpha 469 His-->Pro mutation in spectrin Barcelona (alpha I/50-46b)

3. Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias

4. New insights on hereditary erythrocyte membrane defects

5. Low expression allele alpha LELY of red cell spectrin is associated with mutations in exon 40 (alpha V/41 polymorphism) and intron 45 and with partial skipping of exon 46.

Cited by 1 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. Molecular biology of glucose-6-phosphate dehydrogenase and UDP-glucuronosyltransferase 1A1 in the development of neonatal unconjugated hyperbilirubinemia;Pediatrics & Neonatology;2024-09