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Dokumenttyp:
journal article 
Autor(en):
Simon, E; Fingerhut, R; Baumkötter, J; Konstantopoulou, V; Ratschmann, R; Wendel, U 
Titel:
Maple syrup urine disease: favourable effect of early diagnosis by newborn screening on the neonatal course of the disease. 
Abstract:
BACKGROUND: In the rare autosomal recessive disorder maple syrup urine disease (MSUD) the accumulation of the branched-chain amino acids and their metabolic products results in acute and chronic brain dysfunction. Since 2002, MSUD has been part of the extended newborn screening programme in Germany and Austria. Early diagnosis and intervention during the presymptomatic or early symptomatic period should improve the outcome of the patients, which would make the case for screening for MSUD. AIM: T...    »
 
Zeitschriftentitel:
J Inherit Metab Dis 
Jahr:
2006 
Band / Volume:
29 
Heft / Issue:
Seitenangaben Beitrag:
532-7 
Sprache:
eng 
Print-ISSN:
0141-8955 
TUM Einrichtung:
Kinderklinik und Poliklinik