Literature DB >> 6127031

The biotin-dependent carboxylase deficiencies.

B Wolf, G L Feldman.   

Abstract

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Year:  1982        PMID： 6127031      PMCID： PMC1685435     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  97 in total

Review 1.  Biotin enzymes.

Authors:  H G Wood; R E Barden
Journal:  Annu Rev Biochem       Date:  1977       Impact factor: 23.643

2.  In vitro synthesis of propionyl-CoA holocarboxylase by a partially purified mitochondrial preparation from biotin-deficient chicken liver.

Authors:  P N Achuta Murthy; S P Mistry
Journal:  Can J Biochem       Date:  1974-09

3.  Beta-methylcrotonyl-CoA carboxylase deficiency: a new metabolic error in leucine degradation.

Authors:  O Stokke; L Eldjarn; E Jellum; H Pande; P E Waaler
Journal:  Pediatrics       Date:  1972-05       Impact factor: 7.124

4.  Abnormally high levels of lactate and pyruvate in cerebrospinal fluid of hyperalaninemia with hyperpyruvicemia.

Authors:  T Yoshida; K Tada; T Arakawa
Journal:  Tohoku J Exp Med       Date:  1970-08       Impact factor: 1.848

5.  Correlation between serum propionate and blood ammonia concentrations in propionic acidemia.

Authors:  B Wolf; Y E Hsia; K Tanaka; L E Rosenberg
Journal:  J Pediatr       Date:  1978-09       Impact factor: 4.406

6.  Lactic acidosis due to pyruvate carboxylase deficiency.

Authors:  J C Haworth; B H Robinson; T L Perry
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

7.  Pitfalls in the prenatal diagnosis of propionic acidemia.

Authors:  P D Buchanan; S G Kahler; L Sweetman; W L Nyhan
Journal:  Clin Genet       Date:  1980-09       Impact factor: 4.438

8.  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

9.  Biotin dependent multiple carboxylase deficiency presenting as a congenital lactic acidosis.

Authors:  A Munnich; J M Saudubray; A Cotisson; F X Coudĕ; H Ogier; C Charpentier; C Marsac; G Carrĕ; M Bourgeay-Causse; J Frĕzal
Journal:  Eur J Pediatr       Date:  1981-10       Impact factor: 3.183

10.  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
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  29 in total

1.  Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing.

Authors:  Kensaku Kohrogi; Eri Imagawa; Yuichiro Muto; Katsuki Hirai; Masahiro Migita; Hiroshi Mitsubuchi; Noriko Miyake; Naomichi Matsumoto; Kimitoshi Nakamura; Fumio Endo
Journal:  J Hum Genet       Date:  2015-04-16       Impact factor: 3.172

Review 2.  Metabolic syndromes with dermatologic manifestations.

Authors:  M Irons; H L Levy
Journal:  Clin Rev Allergy       Date:  1986-02

Review 3.  Biotinidase deficiency: a novel vitamin recycling defect.

Authors:  B Wolf; R E Grier; J R Secor McVoy; G S Heard
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982

4.  Susceptibility to heat stress and aberrant gene expression patterns in holocarboxylase synthetase-deficient Drosophila melanogaster are caused by decreased biotinylation of histones, not of carboxylases.

Authors:  Gabriela Camporeale; Janos Zempleni; Joel C Eissenberg
Journal:  J Nutr       Date:  2007-04       Impact factor: 4.798

5.  Quantitative measurement of plasma 3-hydroxyisovaleryl carnitine by LC-MS/MS as a novel biomarker of biotin status in humans.

Authors:  Thomas D Horvath; Shawna L Stratton; Anna Bogusiewicz; Lindsay Pack; Jeffery Moran; Donald M Mock
Journal:  Anal Chem       Date:  2010-05-15       Impact factor: 6.986

6.  Assignment of the alpha and beta chains of human propionyl-CoA carboxylase to genetic complementation groups.

Authors:  A M Lam Hon Wah; K F Lam; F Tsui; B Robinson; M E Saunders; R A Gravel
Journal:  Am J Hum Genet       Date:  1983-09       Impact factor: 11.025

7.  The early detection and management of inborn errors presenting acutely in the neonatal period.

Authors:  J V Leonard
Journal:  Eur J Pediatr       Date:  1985-03       Impact factor: 3.183

8.  The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency.

Authors:  B H Robinson; J Oei; W G Sherwood; D Applegarth; L Wong; J Haworth; P Goodyer; R Casey; L A Zaleski
Journal:  Am J Hum Genet       Date:  1984-03       Impact factor: 11.025

9.  Pyruvate carboxylase deficiency.

Authors:  K Bartlett; H K Ghneim; J H Stirk; G Dale; K G Alberti
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

10.  A cell death assay for assessing the mitochondrial targeting of proteins.

Authors:  Daniel Camara Teixeira; Elizabeth L Cordonier; Subhashinee S K Wijeratne; Patricia Huebbe; Augusta Jamin; Sarah Jarecke; Matthew Wiebe; Janos Zempleni
Journal:  J Nutr Biochem       Date:  2018-01-31       Impact factor: 6.048
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