Your browser doesn't support javascript.
loading
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease.
Ranganath, Prajnya; Matta, Divya; Bhavani, Gandham SriLakshmi; Wangnekar, Savita; Jain, Jamal Mohammed Nurul; Verma, Ishwar C; Kabra, Madhulika; Puri, Ratna Dua; Danda, Sumita; Gupta, Neerja; Girisha, Katta M; Sankar, Vaikom H; Patil, Siddaramappa J; Ramadevi, Akella Radha; Bhat, Meenakshi; Gowrishankar, Kalpana; Mandal, Kausik; Aggarwal, Shagun; Tamhankar, Parag Mohan; Tilak, Preetha; Phadke, Shubha R; Dalal, Ashwin.
Afiliação
  • Ranganath P; Department of Medical Genetics, Nizam's Institute of Medical Genetics, Hyderabad, Telangana, India.
  • Matta D; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.
  • Bhavani GS; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.
  • Wangnekar S; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
  • Jain JM; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.
  • Verma IC; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.
  • Kabra M; Center of Medical Genetics, Sir GangaRam Hospital, New Delhi, India.
  • Puri RD; Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Danda S; Center of Medical Genetics, Sir GangaRam Hospital, New Delhi, India.
  • Gupta N; Department of Clinical Genetics, Christian Medical College and Hospital, Vellore, Tamil Nadu, India.
  • Girisha KM; Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
  • Sankar VH; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.
  • Patil SJ; Genetic Clinic, Department of Pediatrics, SAT Hospital, Government Medical College, Thiruvananthapuram, Kerala, India.
  • Ramadevi AR; Clinical Genetics Unit, Mazumdhar Shaw Medical Center, Bengaluru, Karnataka, India.
  • Bhat M; Division of Genetics, Rainbow Children's Hospital, Hyderabad, Telangana, India.
  • Gowrishankar K; Centre for Human Genetics, Bengaluru, Karnataka, India.
  • Mandal K; Department of Medical Genetics, CHILDS Trust Medical Research Foundation, Kanchi Kamakoti CHILDS Trust Hospital, Chennai, Tamil Nadu, India.
  • Aggarwal S; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
  • Tamhankar PM; Department of Medical Genetics, Nizam's Institute of Medical Genetics, Hyderabad, Telangana, India.
  • Tilak P; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Telangana, India.
  • Phadke SR; Genetic Research Centre, National Institute for Research in Reproductive Health, Mumbai, Maharashtra, India.
  • Dalal A; Division of Human Genetics, St. John's Medical College, Bengaluru, Karnataka, India.
Am J Med Genet A ; 170(10): 2719-30, 2016 10.
Article em En | MEDLINE | ID: mdl-27338287
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esfingomielina Fosfodiesterase / Doenças de Niemann-Pick / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Humans / Infant / Newborn País/Região como assunto: Asia Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esfingomielina Fosfodiesterase / Doenças de Niemann-Pick / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Child, preschool / Humans / Infant / Newborn País/Região como assunto: Asia Idioma: En Ano de publicação: 2016 Tipo de documento: Article