Literature DB >> 6133032

Clinical and biochemical findings on a child with multiple biotin-responsive carboxylase deficiencies.

K Narisawa, N Arai, Y Igarashi, T Satoh, K Tada, Y Hirooka.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1982        PMID： 6133032     DOI： 10.1007/bf01799990

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


× No keyword cloud information.
  8 in total

1.  Measurement of pyruvate carboxylase activity in amniotic fluid cells.

Authors:  G L Feldman; B Wolf
Journal:  Pediatr Res       Date:  1980-02       Impact factor: 3.756

2.  Biochemical differences between mutant propionyl-CoA carboxylases from two complementation groups.

Authors:  B Wolf; Y E Hsia; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1978-09       Impact factor: 11.025

3.  Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria.

Authors:  L Sweetman; S P Bates; D Hull; W L Nyhan
Journal:  Pediatr Res       Date:  1977-11       Impact factor: 3.756

4.  Biotin-response organicaciduria. Multiple carboxylase defects and complementation studies with propionicacidemia in cultured fibroblasts.

Authors:  M Saunders; L Sweetman; B Robinson; K Roth; R Cohn; R A Gravel
Journal:  J Clin Invest       Date:  1979-12       Impact factor: 14.808

5.  Human propionyl CoA carboxylase: some properties of the partially purified enzyme in fibroblasts from controls and patients with propionic acidemia.

Authors:  Y E Hsia; K J Scully; L E Rosenberg
Journal:  Pediatr Res       Date:  1979-06       Impact factor: 3.756

6.  Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia.

Authors:  K S Roth; W Yang; J W Foremann; R Rothman; S Segal
Journal:  J Pediatr       Date:  1980-05       Impact factor: 4.406

7.  Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunity.

Authors:  M J Cowan; D W Wara; S Packman; A J Ammann; M Yoshino; L Sweetman; W Nyhan
Journal:  Lancet       Date:  1979-07-21       Impact factor: 79.321

8.  Propionate inhibition of succinate:CoA ligase (GDP) and the citric acid cycle in mitochondria.

Authors:  D A Stumpf; J McAfee; J K Parks; L Eguren
Journal:  Pediatr Res       Date:  1980-10       Impact factor: 3.756
  8 in total
  6 in total

1.  The polypeptide Syn67 interacts physically with human holocarboxylase synthetase, but is not a target for biotinylation.

Authors:  Yousef I Hassan; Hideaki Moriyama; Janos Zempleni
Journal:  Arch Biochem Biophys       Date:  2009-12-21       Impact factor: 4.013

Review 2.  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

Review 3.  Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature.

Authors:  A J Michalski; G T Berry; S Segal
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

4.  Holocarboxylase synthetase deficiency: report of a case with onset in late infancy.

Authors:  E Touma; T Suormala; E R Baumgartner; B Gerbaka; H Ogier de Baulny; J Loiselet
Journal:  J Inherit Metab Dis       Date:  1999-04       Impact factor: 4.982

5.  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

6.  Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands.

Authors:  A M Lund; F Joensen; D M Hougaard; L K Jensen; E Christensen; M Christensen; B Nørgaard-Petersen; M Schwartz; F Skovby
Journal:  J Inherit Metab Dis       Date:  2007-04-06       Impact factor: 4.982
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.