Výsledky vyhledávání - "Pooja Chilwirwar"

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

Autor: Vinod Gupta, Harsha Prasada, Rashmi Dongerdiye, Rati Devendra, Pooja Chilwirwar, Sunil Bhat, Manisha Madkaikar, S Chandrakala, Ashish Chiddarwar, Prashant Warang, Abhilasha Sampagar, Prabhakar Kedar

Publikováno v: Indian journal of pediatrics. 86(8)

Glucose-6-phosphate isomerase (GPI) deficiency is an autosomal recessive genetic disorder causing hereditary non-spherocytic hemolytic anemia (HNSHA) coupled with a neurological disorder. The aim of this study was to identify GPI genetic defects in a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23438f2d5128e57fdd8214d8db31bb1f
https://pubmed.ncbi.nlm.nih.gov/31183741

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