Literature DB >> 18820388

Biotinidase deficiency.

Ramdas Dahiphale1, Shreepal Jain, Mukesh Agrawal.   

Abstract

A 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.

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Year:  2008        PMID： 18820388

Source DB:  PubMed          Journal:  Indian Pediatr        ISSN： 0019-6061            Impact factor:   1.411


  6 in total

1.  Status of Newborn Screening and Inborn Errors of Metabolism in India.

Authors:  Seema Kapoor; B K Thelma
Journal:  Indian J Pediatr       Date:  2018-05-07       Impact factor: 1.967

2.  Biotinidase deficiency.

Authors:  Rps Tomar; D Vashisth; R Vasudevan
Journal:  Med J Armed Forces India       Date:  2012-01-18

3.  Biotinidase deficiency--clinching the diagnosis rapidly can make all the difference!

Authors:  Ashwin Rajendiran; Sowmya Sampath
Journal:  BMJ Case Rep       Date:  2011-09-28

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

Authors:  Ankur Singh; Avinash Lomash; Sanjeev Pandey; Seema Kapoor
Journal:  J Clin Diagn Res       Date:  2015-12-01

5.  Biotinidase deficiency: A treatable cause of infantile seizures.

Authors:  Parveen Bhardwaj; Ram Krishan Kaushal; Akshat Chandel
Journal:  J Pediatr Neurosci       Date:  2010-01

6.  Biotinidase deficiency: a reversible neurometabolic disorder (an Iranian pediatric case series).

Authors:  Parvaneh Karimzadeh; Farzad Ahmadabadi; Narjes Jafari; Sayena Jabbehdari; Mohammad Reza Alaee; Mohammad Ghofrani; Mohammad Mahdi Taghdiri; Seyed Hassan Tonekaboni
Journal:  Iran J Child Neurol       Date:  2013
  6 in total

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