PESQUISA DE ERRORES CONGENITOS DEL METABOLISMO
Columnista Experto de SIIC Adrian C. Sewell
en colaboración con
Fecha de aprobación: 1 de marzo, 2007
Primera edición en siicsalud:
16 de agosto, 2007
Sección Artículos originales,
subsección
Expertos de Iberoamérica,
página
/des/expertocompleto.php/88356
Especialidad principal:
Pediatría
Especialidades relacionadas:
Bioquímica,Diagnóstico por Laboratorio,Endocrinología y Metabolismo,Genética Humana,Medicina Familiar,Salud Pública,
Arndt T, Gressner A, Herwig J, Meier U, Sewell AC. Argininosuccinate lyase deficiency (ASL) and carbohydrate-deficient transferring (CDT): experience with four independent CDT analysis methods - misleading results given by the %CDT TIA assay., Clinica Chimica Acta 373:117-120, 2006
Sewell AC, Gebhardt B, Herwig, J, Rauterberg EW. Acceptance of extended newborn screening: the problem of parental compliance., European Journal of Pediatrics 163:755-756, 2004
Muth A, Mosandl A, Wanders RJA, Nowaczyk M, Baric I, Böhles H, Sewell AC. Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed with medium-chain triglycerides., Journal of Inherited Metabolic Disease 26:583-592, 2003
Seidel J, Streck S, Bellstedt K, Vianey-Saban C, Pedersen CB, Vockley J, Korall H, Roskos M, Deufel T, Trefz KF, Sewell AC, Kauf E, Zintl F, Lehnert W, Gregersen N. Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene., J ournal of Inherited Metabolic Disease 26:37-42, 2004
Adrian C. Sewell
Dirección profesional:
Theodor-Stern-Kai 7 - 60590, Frankfurt, Alemania
