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Late onset Pompe Disease in India - Beyond the Caucasian phenotype.
Puri, Ratna Dua; Setia, Nitika; N, Vinu; Jagadeesh, Sujatha; Nampoothiri, Sheela; Gupta, Neerja; Muranjan, Mamta; Bhat, Meenakshi; Girisha, Katta M; Kabra, Madhulika; Verma, Jyotsna; Thomas, Divya C; Biji, Ishpreet; Raja, Jayarekha; Makkar, Ravinder; Verma, Ishwar C; Kishnani, Priya S.
Afiliação
  • Puri RD; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India. Electronic address: ratnadpuri@gmail.com.
  • Setia N; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
  • N V; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
  • Jagadeesh S; Department of Clinical Genetics & Genetic Counselling, Mediscan Systems, Chennai, India.
  • Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences, Kerala, India.
  • Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Muranjan M; Department of Pediatrics, King Edward Memorial Hospital, Mumbai, India.
  • Bhat M; Department of Clinical Genetics, Centre for Human Genetics, Bangalore, India.
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
  • Kabra M; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Verma J; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
  • Thomas DC; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
  • Biji I; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
  • Raja J; Department of Clinical Genetics & Genetic Counselling, Mediscan Systems, Chennai, India.
  • Makkar R; Medical Director, Sanofi Genzyme, India.
  • Verma IC; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
  • Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
Neuromuscul Disord ; 31(5): 431-441, 2021 05.
Article em En | MEDLINE | ID: mdl-33741225
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo II Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Depósito de Glicogênio Tipo II Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Neuromuscul Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de publicação: Reino Unido