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Correlation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.
Jansen, E E; Vogel, K R; Salomons, G S; Pearl, P L; Roullet, J-B; Gibson, K M.
Afiliación
  • Jansen EE; Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Neuroscience Campus, Amsterdam, The Netherlands.
  • Vogel KR; Division of Experimental and Systems Pharmacology, College of Pharmacy, Washington State University, Pharmaceutical and Biomedical Sciences Building Room 347, 412 E. Spokane Falls Blvd, Spokane, WA, 99204, USA.
  • Salomons GS; Division of Experimental and Systems Pharmacology, College of Pharmacy, Washington State University, Pharmaceutical and Biomedical Sciences Building Room 347, 412 E. Spokane Falls Blvd, Spokane, WA, 99204, USA.
  • Pearl PL; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
  • Roullet JB; Division of Experimental and Systems Pharmacology, College of Pharmacy, Washington State University, Pharmaceutical and Biomedical Sciences Building Room 347, 412 E. Spokane Falls Blvd, Spokane, WA, 99204, USA.
  • Gibson KM; Division of Experimental and Systems Pharmacology, College of Pharmacy, Washington State University, Pharmaceutical and Biomedical Sciences Building Room 347, 412 E. Spokane Falls Blvd, Spokane, WA, 99204, USA. mike.gibson@wsu.edu.
J Inherit Metab Dis ; 39(6): 795-800, 2016 11.
Article en En | MEDLINE | ID: mdl-27686230
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Biomarcadores / Discapacidades del Desarrollo / Succionato-Semialdehído Deshidrogenasa / Ácido gamma-Aminobutírico / Errores Innatos del Metabolismo de los Aminoácidos Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Inherit Metab Dis Año: 2016 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Biomarcadores / Discapacidades del Desarrollo / Succionato-Semialdehído Deshidrogenasa / Ácido gamma-Aminobutírico / Errores Innatos del Metabolismo de los Aminoácidos Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: J Inherit Metab Dis Año: 2016 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Estados Unidos