Literature DB >> 9870216

Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency.

O Sakamoto1, Y Suzuki, Y Aoki, X Li, M Hiratsuka, K Yanagihara, K Inui, T Okabe, S Yamaguchi, J Kudoh, N Shimizu, K Narisawa.   

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Year:  1998        PMID： 9870216     DOI： 10.1023/a:1005435121933

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  3 in total

1.  Characterization of mutant holocarboxylase synthetase (HCS): a Km for biotin was not elevated in a patient with HCS deficiency.

Authors:  Y Aoki; Y Suzuki; X Li; O Sakamoto; H Chikaoka; S Takita; K Narisawa
Journal:  Pediatr Res       Date:  1997-12       Impact factor: 3.756

2.  Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.

Authors:  L Dupuis; A Leon-Del-Rio; D Leclerc; E Campeau; L Sweetman; J M Saudubray; G Herman; K M Gibson; R A Gravel
Journal:  Hum Mol Genet       Date:  1996-07       Impact factor: 6.150

3.  Molecular analysis of holocarboxylase synthetase deficiency: a missense mutation and a single base deletion are predominant in Japanese patients.

Authors:  Y Aoki; Y Suzuki; O Sakamoto; X Li; K Takahashi; A Ohtake; R Sakuta; T Ohura; S Miyabayashi; K Narisawa
Journal:  Biochim Biophys Acta       Date:  1995-12-12
  3 in total
  2 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
  2 in total

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