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Biotinidase deficiency—Diagnosis by enzyme assay and a follow-up study

✍ Scribed by N. Ananth; G. S. Praveen Kumar


Publisher
Association of Clinical Biochemistry of India
Year
2003
Tongue
English
Weight
205 KB
Volume
18
Category
Article
ISSN
0970-1915

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Biotinidase deficiency is characterized by neurological and cutaneous abnormalities that can be prevented or ameliorated by oral biotin therapy. A child with biotinidase deficiency went undiagnosed for a long period and has irreversible neurological deficits despite biotin treatment. This child is h