Biotinidase deficiency in the second decade with atypical neuroimaging findings

Author:

Gowda VykuntarajuK,Avaragollapuravarga Mathada Amit,Srinivasan VarunvenkatM,Vamyanmane DhananjayaK

Publisher

Medknow

Subject

General Biochemistry, Genetics and Molecular Biology

Reference13 articles.

1. Worldwide survey of neonatal screening for biotinidase deficiency;Wolf;J Inherit Metab Dis,1991

2. Biotinidase deficiency: A reversible neurometabolic disorder (an Iranian pediatric case series);Karimzadeh;Iran J Child Neurol,2013

3. Biotinidase deficiency: A reversible metabolic encephalopathy.Neuroimaging and MR spectroscopic findings in a series of four patients;Desai;Pediatr Radiol,2008

4. A case of biotinidase deficiency with unchanged basal ganglia lesions in MRI during an eight-year follow-up;Fallah;J Case Rep Pract,2013

5. Two unusual clinical and radiological presentations of biotinidase deficiency;Mc;Eur J Paediatr Neurol,2010

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