Literature DB >> 16027709

Severe holocarboxylase synthetase deficiency with incomplete biotin responsiveness resulting in antenatal insult in samoan neonates.

Callum J Wilson1, Michael Myer, Brian A Darlow, Thorsten Stanley, Glen Thomson, E Regula Baumgartner, Denise M Kirby, David R Thorburn.   

Abstract

We describe 7 Polynesian babies with a unique severe form of holocarboxylase synthetase deficiency characterized by antenatal growth retardation, subependymal cysts, only partial response to biotin, and a poor outcome.

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Year:  2005        PMID： 16027709     DOI： 10.1016/j.jpeds.2005.03.006

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  6 in total

Review 1.  Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review.

Authors:  Sahan P Semasinghe Bandaralage; Soheil Farnaghi; Joel M Dulhunty; Alka Kothari
Journal:  Pediatr Radiol       Date:  2016-01-11

2.  Severe neonatal holocarboxylase synthetase deficiency in west african siblings.

Authors:  Mauricio De Castro; Dina J Zand; Uta Lichter-Konecki; Brian Kirmse
Journal:  JIMD Rep       Date:  2015-02-18

3.  A novel molecular mechanism to explain biotin-unresponsive holocarboxylase synthetase deficiency.

Authors:  Lungisa Mayende; Rachel D Swift; Lisa M Bailey; Tatiana P Soares da Costa; John C Wallace; Grant W Booker; Steven W Polyak
Journal:  J Mol Med (Berl)       Date:  2011-09-06       Impact factor: 4.599

4.  Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation.

Authors:  T P Slavin; S J Zaidi; C Neal; B Nishikawa; L H Seaver
Journal:  JIMD Rep       Date:  2013-09-13

5.  Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.

Authors:  Shane C Quinonez; Andrea H Seeley; Cindy Lam; Thomas W Glover; Bruce A Barshop; Catherine E Keegan
Journal:  JIMD Rep       Date:  2016-08-13

Review 6.  The influence of micronutrients in cell culture: a reflection on viability and genomic stability.

Authors:  Ana Lúcia Vargas Arigony; Iuri Marques de Oliveira; Miriana Machado; Diana Lilian Bordin; Lothar Bergter; Daniel Prá; João Antonio Pêgas Henriques
Journal:  Biomed Res Int       Date:  2013-05-27       Impact factor: 3.411
  6 in total

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