Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India

INTRODUCTION: Biotinidase deficiency is an inherited metabolic disorder with estimated birth incidence of 1 in 61,000 for profound and partial deficiency. Estimated incidence of profound and partial biotinidase deficiency is 1 in 1, 37,000 and 1 in 1, 10,000 respectively. The carrier frequency in ge...

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Dades bibliogràfiques
Publicat a:J Clin Diagn Res
Autors principals: Singh, Ankur, Lomash, Avinash, Pandey, Sanjeev, Kapoor, Seema
Format: Artigo
Idioma:Inglês
Publicat: JCDR Research and Publications (P) Limited 2015
Matèries:
Paediatrics Section
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4717689/
https://ncbi.nlm.nih.gov/pubmed/26816961
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7860/JCDR/2015/12958.6941
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