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The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.
Righetti, Sarah; Allcock, Richard J N; Yaplito-Lee, Joy; Adams, Louisa; Ellaway, Carolyn; Jones, Kristi J; Selvanathan, Arthavan; Fletcher, Janice; Pitt, James; van Kuilenburg, André B P; Delatycki, Martin B; Laing, Nigel G; Kirk, Edwin P.
Afiliación
  • Righetti S; University of New South Wales, Sydney, NSW, Australia.
  • Allcock RJN; PathWest Laboratory Medicine, Perth, WA, Australia.
  • Yaplito-Lee J; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, VIC, Australia.
  • Adams L; Sydney Children's Hospitals Network, Sydney, NSW, Australia.
  • Ellaway C; Sydney Children's Hospitals Network, Sydney, NSW, Australia.
  • Jones KJ; Sydney Children's Hospitals Network, Sydney, NSW, Australia; University of Sydney, NSW, Australia.
  • Selvanathan A; Sydney Children's Hospitals Network, Sydney, NSW, Australia.
  • Fletcher J; New South Wales Health Pathology, Sydney, NSW, Australia.
  • Pitt J; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • van Kuilenburg ABP; Amsterdam UMC location, University of Amsterdam, Amsterdam Gastroenterology Endocrinology Metabolism, Cancer Center Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam, the Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, the Netherlands.
  • Delatycki MB; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
  • Laing NG; Centre for Medical Research University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA, Australia.
  • Kirk EP; University of New South Wales, Sydney, NSW, Australia; Sydney Children's Hospitals Network, Sydney, NSW, Australia; New South Wales Health Pathology, Sydney, NSW, Australia. Electronic address: Edwin.kirk@health.nsw.gov.au.
Mol Genet Metab ; 137(1-2): 62-67, 2022.
Article en En | MEDLINE | ID: mdl-35926322
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de la Purina-Pirimidina / Trastornos del Movimiento Tipo de estudio: Diagnostic_studies / Prognostic_studies / Systematic_reviews Límite: Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2022 Tipo del documento: Article País de afiliación: Australia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Errores Innatos del Metabolismo de la Purina-Pirimidina / Trastornos del Movimiento Tipo de estudio: Diagnostic_studies / Prognostic_studies / Systematic_reviews Límite: Humans Idioma: En Revista: Mol Genet Metab Asunto de la revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Año: 2022 Tipo del documento: Article País de afiliación: Australia