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Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.
Gupta, Neerja; Kazi, Zoheb B; Nampoothiri, Sheela; Jagdeesh, Sujatha; Kabra, Madhulika; Puri, Ratna Dua; Muranjan, Mamta; Kalaivani, Mani; Rehder, Catherine; Bali, Deeksha; Verma, Ishwar C; Kishnani, Priya S.
Afiliación
  • Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. Electronic address: neerja17@gmail.com.
  • Kazi ZB; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.
  • Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences, Kerala, India.
  • Jagdeesh S; Department of Clinical Genetics & Genetic Counselling, Mediscan Systems, Chennai, India.
  • Kabra M; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Puri RD; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
  • Muranjan M; Department of Pediatrics, King Edward Memorial Hospital, Mumbai, India.
  • Kalaivani M; Department of Biostatistics, All India Institute of Medical Sciences, New Delhi, India.
  • Rehder C; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.
  • Bali D; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.
  • 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.
J Pediatr ; 216: 44-50.e5, 2020 01.
Article en En | MEDLINE | ID: mdl-31606152
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo II Tipo de estudio: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Female / Humans / Infant / Male / Newborn País/Región como asunto: Asia Idioma: En Revista: J Pediatr Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo II Tipo de estudio: Observational_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Límite: Female / Humans / Infant / Male / Newborn País/Región como asunto: Asia Idioma: En Revista: J Pediatr Año: 2020 Tipo del documento: Article Pais de publicación: Estados Unidos