Literature DB >> 8772937

Ponto-bulbar palsy with deafness (Vialetto-Van Laere syndrome).

V Puri1, A Rohtagi, P S Parihar.   

Abstract

Entities:  

Mesh：

Year:  1996        PMID： 8772937

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


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  2 in total

1.  SLC52A2 [p.P141T] and SLC52A3 [p.N21S] causing Brown-Vialetto-Van Laere Syndrome in an Indian patient: First genetically proven case with mutations in two riboflavin transporters.

Authors:  Tamilarasan Udhayabanu; Veedamali S Subramanian; Trevor Teafatiller; Vykuntaraju K Gowda; Varun S Raghavan; Perumal Varalakshmi; Hamid M Said; Balasubramaniem Ashokkumar
Journal:  Clin Chim Acta       Date:  2016-10-01       Impact factor: 3.786

Review 2.  Brown-Vialetto-Van Laere syndrome.

Authors:  Sivakumar Sathasivam
Journal:  Orphanet J Rare Dis       Date:  2008-04-17       Impact factor: 4.123
  2 in total

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