Literature summary for 3.5.1.12 extracted from

Wolf, B.; Jensen, K.P.; Barshop, B.; Blitzer, M.; Carlson, M.; Goudie, D.R.; Gokcay, G.H.; Demirkol, M.; Baykal, T.; Demir, F.; Quary, S.; Shih, L.Y.; Pedro, H.F.; Chen, T.H.; Slonim, A.E.
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates (2005), Hum. Mutat., 25, 413.

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Application

Application	Comment	Organism
medicine	thirteen novel mutations in children with biotinidase deficiency. 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 prevents symptoms in children identified by newborn screening or treated since birth	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

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Release 2023.1 (January 2023)