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Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Bijarnia-Mahay, Sunita; Häberle, Johannes; Jalan, Anil B; Puri, Ratna Dua; Kohli, Sudha; Kudalkar, Ketki; Rüfenacht, Véronique; Gupta, Deepti; Maurya, Deepshikha; Verma, Jyotsna; Shigematsu, Yosuke; Yamaguchi, Seiji; Saxena, Renu; Verma, Ishwar C.
Afiliación
  • Bijarnia-Mahay S; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India. Bijarnia@gmail.com.
  • Häberle J; University Children's Hospital Zurich and Children's Research Centre, Steinwiesstr 75, CH-8032, Zurich, Switzerland.
  • Jalan AB; Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN), Navi Mumbai, India.
  • Puri RD; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
  • Kohli S; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
  • Kudalkar K; Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN), Navi Mumbai, India.
  • Rüfenacht V; University Children's Hospital Zurich and Children's Research Centre, Steinwiesstr 75, CH-8032, Zurich, Switzerland.
  • Gupta D; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
  • Maurya D; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
  • Verma J; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
  • Shigematsu Y; Department of Pediatrics, Faculty of Medical Science, University of Fukui, Fukui, Japan.
  • Yamaguchi S; Department of Pediatrics, Shimane University Faculty of Medicine, 89-1 En-ya-cho Izumo, Shimane, 693-8501, Japan.
  • Saxena R; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
  • Verma IC; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Orphanet J Rare Dis ; 13(1): 174, 2018 10 01.
Article en En | MEDLINE | ID: mdl-30285816
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Trastornos Innatos del Ciclo de la Urea Tipo de estudio: Diagnostic_studies / Screening_studies Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2018 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Trastornos Innatos del Ciclo de la Urea Tipo de estudio: Diagnostic_studies / Screening_studies Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2018 Tipo del documento: Article