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

Ankur Singh | Zendy; Avinash Lomash | Zendy; Sanjeev Kumar Pandey | Zendy; Seema Kapoor | Zendy

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

Author(s) -

Ankur Singh,

Avinash Lomash,

Sanjeev Kumar Pandey,

Seema Kapoor

Publication year - 2015

Publication title -

journal of clinical and diagnostic research

Language(s) - English

Resource type - Journals

eISSN - 2249-782X

pISSN - 0973-709X

DOI - 10.7860/jcdr/2015/12958.6941

Subject(s) - biotinidase deficiency , medicine , interquartile range , hypotonia , pediatrics , incidence (geometry) , ataxia , epilepsy , newborn screening , physics , optics , psychiatry

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 general population is 1 in 120. We attempt to study clinical, biochemical and outcome from 10 Biotinidase deficient patients.

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