Biotinidase deficiency.

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dc.contributor.authorDahiphale, Ramdasen_US
dc.contributor.authorJain, Shreepalen_US
dc.contributor.authorAgrawal, Mukeshen_US
dc.date.accessioned2008-09-30en_US
dc.date.accessioned2009-05-27T05:40:22Z
dc.date.available2008-09-30en_US
dc.date.available2009-05-27T05:40:22Z
dc.date.issued2008-09-30en_US
dc.description.abstractA three month old baby presented with refractory seizures, dermatosis and persistent metabolic acidosis. Biotinidase deficiency was diagnosed on enzyme assay. Patient responded dramatically to biotin supplementation.en_US
dc.description.affiliationDepartment of Pediatrics, Topiwala National Medical College and B.Y.L.Nair Hospital, Mumbai, India. dr_ramdas@yahoo.comen_US
dc.identifier.citationDahiphale R, Jain S, Agrawal M. Biotinidase deficiency. Indian Pediatrics. 2008 Sep; 45(9): 777-9en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/12427
dc.language.isoengen_US
dc.source.urihttps://indianpediatrics.neten_US
dc.subject.meshAcidosis --etiologyen_US
dc.subject.meshAlopecia --etiologyen_US
dc.subject.meshBiotin --therapeutic useen_US
dc.subject.meshBiotinidase Deficiency --complicationsen_US
dc.subject.meshDermatitis, Seborrheic --etiologyen_US
dc.subject.meshEpilepsy --etiologyen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshMaleen_US
dc.titleBiotinidase deficiency.en_US
dc.typeCase Reportsen_US
dc.typeJournal Articleen_US
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