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Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Morris, Andrew A M; Kozich, Viktor; Santra, Saikat; Andria, Generoso; Ben-Omran, Tawfeg I M; Chakrapani, Anupam B; Crushell, Ellen; Henderson, Mick J; Hochuli, Michel; Huemer, Martina; Janssen, Miriam C H; Maillot, Francois; Mayne, Philip D; McNulty, Jenny; Morrison, Tara M; Ogier, Helene; O'Sullivan, Siobhan; Pavlíková, Markéta; de Almeida, Isabel Tavares; Terry, Allyson; Yap, Sufin; Blom, Henk J; Chapman, Kimberly A.
Afiliação
  • Morris AA; Institute of Human Development, University of Manchester, Manchester, UK. Andrew.morris@cmft.nhs.uk.
  • Kozich V; Willink Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, St Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK. Andrew.morris@cmft.nhs.uk.
  • Santra S; Institute of Inherited Metabolic Disorders, Charles University in Prague-First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
  • Andria G; Clinical IMD, Birmingham Children's Hospital, Birmingham, UK.
  • Ben-Omran TI; Department of translational medicine, Federico II University, Naples, Italy.
  • Chakrapani AB; Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
  • Crushell E; Department of Metabolic Medicine, Great Ormond Street Hospital, London, UK.
  • Henderson MJ; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
  • Hochuli M; Willink Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals, St Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK.
  • Huemer M; Biochemical Genetics, St James' University Hospital, Leeds, UK.
  • Janssen MC; Division of Endocrinology, Diabetes and Clinical Nutrition, University Hospital Zürich, Zurich, Switzerland.
  • Maillot F; Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zurich, Switzerland.
  • Mayne PD; Rare Disease Initiative Zürich, University of Zürich, Zurich, Switzerland.
  • McNulty J; Dept. of Paediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria.
  • Morrison TM; Department of Internal medicine, Radboud University Medical Center, Nijmegen, Netherlands.
  • Ogier H; CHRU de Tours, Université François Rabelais, Tours, France.
  • O'Sullivan S; Newborn Bloodspot Screening Laboratory, Temple Street Children's University Hospital, Dublin, Ireland.
  • Pavlíková M; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
  • de Almeida IT; HCU Network, Baulkham Hills, Australia.
  • Terry A; Service de Neurologie Pédiatrique et des Maladies Métaboliques, Hôpital Robert Debré, Paris, France.
  • Yap S; Royal Belfast Hospital for Sick Children, Belfast, UK.
  • Blom HJ; Institute of Inherited Metabolic Disorders, Charles University in Prague-First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
  • Chapman KA; Metabolism & Genetics Group, Faculty of Pharmacy at University of Lisboa, Lisboa, Portugal.
J Inherit Metab Dis ; 40(1): 49-74, 2017 01.
Article em En | MEDLINE | ID: mdl-27778219
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cistationina beta-Sintase / Homocistinúria Tipo de estudo: Diagnostic_studies / Guideline / Systematic_reviews Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos
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: Cistationina beta-Sintase / Homocistinúria Tipo de estudo: Diagnostic_studies / Guideline / Systematic_reviews Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos