Literature DB >> 24623922

Biotinidase deficiency.

Rps Tomar1, D Vashisth2, R Vasudevan3.   

Abstract

Entities:  

Year:  2012        PMID： 24623922      PMCID： PMC3862896          DOI： 10.1016/S0377-1237(11)60118-4

Source DB:  PubMed          Journal:  Med J Armed Forces India        ISSN： 0377-1237


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  8 in total

1.  An approach to neurometabolic disorders by a simple metabolic screen.

Authors:  S Gulati; M Vaswani; V Kalra; M Kabra; M Kaur
Journal:  Indian Pediatr       Date:  2000-01       Impact factor: 1.411

2.  Biotinidase deficiency.

Authors:  Ramdas Dahiphale; Shreepal Jain; Mukesh Agrawal
Journal:  Indian Pediatr       Date:  2008-09       Impact factor: 1.411

3.  Biotinidase deficiency: a survey of 10 cases.

Authors:  H J Wastell; K Bartlett; G Dale; A Shein
Journal:  Arch Dis Child       Date:  1988-10       Impact factor: 3.791

4.  Cerebral metabolic change after treatment in biotinidase deficiency.

Authors:  I T Lott; S Lottenberg; W L Nyhan; M J Buchsbaum
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

5.  Biotinidase deficiency with hypertonia as unusual feature.

Authors:  Narendra Rathi; Manisha Rathi
Journal:  Indian Pediatr       Date:  2009-01       Impact factor: 1.411

6.  Newborn screening in India.

Authors:  A Radha Rama Devi; S M Naushad
Journal:  Indian J Pediatr       Date:  2004-02       Impact factor: 1.967

7.  Outcome in patients with profound biotinidase deficiency: relevance of newborn screening.

Authors:  Peter Weber; Sabine Scholl; E Regula Baumgartner
Journal:  Dev Med Child Neurol       Date:  2004-07       Impact factor: 5.449

8.  Technical standards and guidelines for the diagnosis of biotinidase deficiency.

Authors:  Tina M Cowan; Miriam G Blitzer; Barry Wolf
Journal:  Genet Med       Date:  2010-07       Impact factor: 8.822
  8 in total
  2 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.  A Treatable Cause of Myelopathy: Biotinidase Deficiency Presenting as Acute Flaccid Paralysis.

Authors:  Vykuntaraju K Gowda; Chetan Kerur; Dhananjaya K Vamyanmane; Pragalatha Kumar; Vani H Nagarajappa; Sanjay K Shivappa
Journal:  J Pediatr Genet       Date:  2020-10-08
  2 in total

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