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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, Prabhakar S; Dongerdiye, Rashmi; Chilwirwar, Pooja; Gupta, Vinod; Chiddarwar, Ashish; Devendra, Rati; Warang, Prashant; Prasada, Harsha; Sampagar, Abhilasha; Bhat, Sunil; Chandrakala, S; Madkaikar, Manisha.
Afiliação
  • Kedar PS; Department of Hematogenetics, ICMR-National Institute of Immunohematology, King Edward Memorial Hospital Campus, Parel, Mumbai, 400012, India. kedarps2002@yahoo.com.
  • Dongerdiye R; Department of Hematogenetics, ICMR-National Institute of Immunohematology, King Edward Memorial Hospital Campus, Parel, Mumbai, 400012, India.
  • Chilwirwar P; Department of Hematogenetics, ICMR-National Institute of Immunohematology, King Edward Memorial Hospital Campus, Parel, Mumbai, 400012, India.
  • Gupta V; Department of Hematogenetics, ICMR-National Institute of Immunohematology, King Edward Memorial Hospital Campus, Parel, Mumbai, 400012, India.
  • Chiddarwar A; Department of Hematogenetics, ICMR-National Institute of Immunohematology, King Edward Memorial Hospital Campus, Parel, Mumbai, 400012, India.
  • Devendra R; Department of Hematogenetics, ICMR-National Institute of Immunohematology, King Edward Memorial Hospital Campus, Parel, Mumbai, 400012, India.
  • Warang P; Department of Hematogenetics, ICMR-National Institute of Immunohematology, King Edward Memorial Hospital Campus, Parel, Mumbai, 400012, India.
  • Prasada H; Department of Pediatrics, Kasturba Medical College Hospital, Manipal University, Mangalore, India.
  • Sampagar A; Department of Pediatrics, KLES Dr. Prabhakar Kore Hospital, and MRC, Belagavi, India.
  • Bhat S; Department of Hematology, Oncology, and Bone Marrow Transplantation, Mazumdar Shaw Cancer Center, Narayana Health City, Bangalore, India.
  • Chandrakala S; Department of Hematology, King Edward Memorial Hospital, Parel, Mumbai, India.
  • Madkaikar M; Department of Hematogenetics, ICMR-National Institute of Immunohematology, King Edward Memorial Hospital Campus, Parel, Mumbai, 400012, India.
Indian J Pediatr ; 86(8): 692-699, 2019 08.
Article em En | MEDLINE | ID: mdl-31030358

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glucose-6-Fosfato Isomerase / Anemia Hemolítica Congênita não Esferocítica / Deficiência Intelectual / Doenças Neuromusculares Tipo de estudo: Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: Indian J Pediatr Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Índia

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glucose-6-Fosfato Isomerase / Anemia Hemolítica Congênita não Esferocítica / Deficiência Intelectual / Doenças Neuromusculares Tipo de estudo: Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male País/Região como assunto: Asia Idioma: En Revista: Indian J Pediatr Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Índia
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