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Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1.
van Vliet, K; Dijkstra, A M; Bouva, M J; van der Krogt, J; Bijsterveld, K; van der Sluijs, F; de Sain-van der Velden, M G; Koop, K; Rossi, A; Thomas, J A; Patera, C A; Kiewiet, M B G; Waters, P J; Cyr, D; Boelen, A; van Spronsen, F J; Heiner-Fokkema, M R.
Afiliación
  • van Vliet K; Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Dijkstra AM; Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Bouva MJ; Center for Health Protection, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands.
  • van der Krogt J; Laboratory of Metabolic diseases, Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Bijsterveld K; Laboratory of Metabolic diseases, Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • van der Sluijs F; Laboratory of Metabolic diseases, Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • de Sain-van der Velden MG; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Koop K; Department of Pediatrics, section Metabolic Diseases, Wilhelmina Children's Hospital, Utrecht, The Netherlands.
  • Rossi A; Department of Translational Medicine, Section of Pediatrics, University of Naples "Federico II", Italy.
  • Thomas JA; Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Patera CA; Department of Genetics and Metabolism, Shodair Children's Hospital, Helena, Montana, USA.
  • Kiewiet MBG; Center for Health Protection, National Institute for Public Health and the Environment (RIVM), Bilthoven, The Netherlands.
  • Waters PJ; Medical Genetics Service, Department of Laboratory Medicine, CHU Sherbrooke and Department of Pediatrics, Université de Sherbrooke, Sherbrooke, Québec, Canada.
  • Cyr D; Medical Genetics Service, Department of Laboratory Medicine, CHU Sherbrooke and Department of Pediatrics, Université de Sherbrooke, Sherbrooke, Québec, Canada.
  • Boelen A; Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • van Spronsen FJ; Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Heiner-Fokkema MR; Laboratory of Metabolic diseases, Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
J Inherit Metab Dis ; 46(6): 1104-1113, 2023 11.
Article en En | MEDLINE | ID: mdl-37545091
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Tirosinemias Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Humans / Newborn Idioma: En Revista: J Inherit Metab Dis Año: 2023 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Tirosinemias Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Humans / Newborn Idioma: En Revista: J Inherit Metab Dis Año: 2023 Tipo del documento: Article País de afiliación: Países Bajos