Hereditary nonspherocytic hemolytic anemia caused by red cell glucose-6-phosphate isomerase (GPI) deficiency in two Portuguese patients: Clinical features and molecular study
Author:
Funder
Fundação para a Ciência e Tecnologia
Forum Hematologico de Coimbra, Portugal
Publisher
Elsevier BV
Subject
Cell Biology,Hematology,Molecular Biology,Molecular Medicine
Reference44 articles.
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5. Tumor cell autocrine motility factor is the neuroleukin/phosphohexose isomerase polypeptide;Watanabe;Cancer Res.,1996
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1. The novel compound heterozygous variants identified in a Chinese family with glucose phosphate isomerase deficiency and pathogenicity analysis;BMC Medical Genomics;2023-07-10
2. Hereditary nonspherocytic hemolytic anemia caused by glucose-6-phosphate isomerase (GPI) deficiency in a Chinese patient: a case report;BMC Pediatrics;2022-08-01
3. Congenital Hemolytic Anemia Because of Glucose Phosphate Isomerase Deficiency: Identification of 2 Novel Missense Mutations in the GPI Gene;Journal of Pediatric Hematology/Oncology;2019-08-14
4. Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New Cases;Frontiers in Physiology;2019-05-07
5. Glucose Phosphate Isomerase Deficiency: High Prevalence of p.Arg347His Mutation in Indian Population Associated with Severe Hereditary Non-Spherocytic Hemolytic Anemia Coupled with Neurological Dysfunction;The Indian Journal of Pediatrics;2019-04-27
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