Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates

Biotinidase deficiency is a defect in the recycling of the vitamin biotin. Biotin supplementation can markedly improve the neurological and cutaneous symptoms of affected children and prevent symptoms in children identified by newborn screening or treated since birth. We have determined thirteen nov...

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Veröffentlicht in:	Human mutation 2005-04, Vol.25 (4), p.413-413
Hauptverfasser:	Wolf, Barry, Jensen, Kevin P., Barshop, Bruce, Blitzer, Miriam, Carlson, Martha, Goudie, David R., Gokcay, Gulden Huner, Demirkol, Mubeccel, Baykal, Tolunay, Demir, F., Quary, Sharon, Shih, Ling Yu, Pedro, Helio F., Chen, Tsui-hua H., Slonim, Alfred E.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Binding Sites Biotin - chemistry biotinidase Biotinidase - genetics biotinidase deficiency Biotinidase Deficiency - diagnosis Biotinidase Deficiency - genetics Biotinidase Deficiency - physiopathology BTD Female Humans Infant Infant, Newborn Male Mutation structure-function
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