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Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency

MedGen UID:
864758
•Concept ID:
C4016321
•
Finding
Synonym: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
 
OMIM®: 172400

Recent clinical studies

Etiology

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.
Kedar PS, Dongerdiye R, Chilwirwar P, Gupta V, Chiddarwar A, Devendra R, Warang P, Prasada H, Sampagar A, Bhat S, Chandrakala S, Madkaikar M
Indian J Pediatr 2019 Aug;86(8):692-699. Epub 2019 Apr 27 doi: 10.1007/s12098-019-02928-1. PMID: 31030358

Prognosis

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.
Kedar PS, Dongerdiye R, Chilwirwar P, Gupta V, Chiddarwar A, Devendra R, Warang P, Prasada H, Sampagar A, Bhat S, Chandrakala S, Madkaikar M
Indian J Pediatr 2019 Aug;86(8):692-699. Epub 2019 Apr 27 doi: 10.1007/s12098-019-02928-1. PMID: 31030358

Clinical prediction guides

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.
Kedar PS, Dongerdiye R, Chilwirwar P, Gupta V, Chiddarwar A, Devendra R, Warang P, Prasada H, Sampagar A, Bhat S, Chandrakala S, Madkaikar M
Indian J Pediatr 2019 Aug;86(8):692-699. Epub 2019 Apr 27 doi: 10.1007/s12098-019-02928-1. PMID: 31030358

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