Literature DB >> 19491117

Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood.

P S Bindu1, M L Noone, A Nalini, Uday B Muthane, Jerry M E Kovoor.   

Abstract

Biotin-responsive basal ganglia disease is a rare childhood neurological disorder of uncertain etiology that is treatable if suspected and diagnosed. Only few cases have been reported earlier in literature. We report a case of biotin-responsive basal ganglia disease suspected clinically, corroborated by neuroimaging and a dramatic response to biotin therapy.

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Year:  2009        PMID: 19491117     DOI: 10.1177/0883073808329525

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  6 in total

1.  Biotin-responsive basal ganglia disease: neuroimaging features before and after treatment.

Authors:  H Kassem; A Wafaie; S Alsuhibani; T Farid
Journal:  AJNR Am J Neuroradiol       Date:  2014-05-08       Impact factor: 3.825

2.  Biotin Thiamin Responsive Basal Ganglia Disease in Siblings.

Authors:  Vykuntaraju K Gowda; Varunvenkat M Srinivasan; Maya Bhat; Naveen Benakappa
Journal:  Indian J Pediatr       Date:  2017-11-04       Impact factor: 1.967

3.  Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature.

Authors:  Salvatore Savasta; Francesco Bassanese; Chiara Buschini; Thomas Foiadelli; Chiara Trabatti; Stephanie Efthymiou; Vincenzo Salpietro; Henry Houlden; Annamaria Simoncelli; Gian Luigi Marseglia
Journal:  J Pediatr Genet       Date:  2018-12-18

Review 4.  Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.

Authors:  Majid Alfadhel; Makki Almuntashri; Raafat H Jadah; Fahad A Bashiri; Muhammad Talal Al Rifai; Hisham Al Shalaan; Mohammed Al Balwi; Ahmed Al Rumayan; Wafaa Eyaid; Waleed Al-Twaijri
Journal:  Orphanet J Rare Dis       Date:  2013-06-06       Impact factor: 4.123

Review 5.  Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review.

Authors:  Jiaping Wang; Junling Wang; Xiaodi Han; Zhimei Liu; Yanli Ma; Guohong Chen; Haoya Zhang; Dan Sun; Ruifeng Xu; Yi Liu; Yuqin Zhang; Yongxin Wen; Xinhua Bao; Qian Chen; Fang Fang
Journal:  Front Genet       Date:  2021-07-01       Impact factor: 4.599

Review 6.  Drug treatment of inborn errors of metabolism: a systematic review.

Authors:  Majid Alfadhel; Khalid Al-Thihli; Hiba Moubayed; Wafaa Eyaid; Majed Al-Jeraisy
Journal:  Arch Dis Child       Date:  2013-03-26       Impact factor: 3.791

  6 in total

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