Literature DB >> 3930851

Organic aciduria in late-onset biotin-responsive multiple carboxylase deficiency.

C Erasmus, L J Mienie, C J Reinecke, S K Wadman.   

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Year:  1985        PMID： 3930851     DOI： 10.1007/bf01811480

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


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  7 in total

1.  Report of a patient with severe, chronic lactic acidaemia and pyruvate carboxylase deficiency.

Authors:  J P Van Biervliet; L Bruinvis; C van der Heiden; D Ketting; S K Wadman; J L Willemse; L A Monnens
Journal:  Dev Med Child Neurol       Date:  1977-06       Impact factor: 5.449

2.  Deficient biotinidase activity in late-onset multiple carboxylase deficiency.

Authors:  B Wolf; R E Grier; W D Parker; S I Goodman; R J Allen
Journal:  N Engl J Med       Date:  1983-01-20       Impact factor: 91.245

3.  Biotin deficiency with neurologic and cutaneous manifestations but without organic aciduria.

Authors:  H M Swick; C L Kien
Journal:  J Pediatr       Date:  1983-08       Impact factor: 4.406

4.  Phenotypic variation in biotinidase deficiency.

Authors:  B Wolf; R E Grier; R J Allen; S I Goodman; C L Kien; W D Parker; D M Howell; D L Hurst
Journal:  J Pediatr       Date:  1983-08       Impact factor: 4.406

5.  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

6.  Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency.

Authors:  B Wolf; R E Grier; R J Allen; S I Goodman; C L Kien
Journal:  Clin Chim Acta       Date:  1983-07-15       Impact factor: 3.786

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
  7 in total
  2 in total

1.  Clinical variability of isovaleric acidemia in a genetically homogeneous population.

Authors:  M Dercksen; M Duran; L Ijlst; L J Mienie; C J Reinecke; J P N Ruiter; H R Waterham; R J A Wanders
Journal:  J Inherit Metab Dis       Date:  2012-02-17       Impact factor: 4.982

2.  Biotin starvation causes mitochondrial protein hyperacetylation and partial rescue by the SIRT3-like deacetylase Hst4p.

Authors:  Christian T Madsen; Kathrine B Sylvestersen; Clifford Young; Sara C Larsen; Jon W Poulsen; Marianne A Andersen; Eva A Palmqvist; Martin Hey-Mogensen; Per B Jensen; Jonas T Treebak; Michael Lisby; Michael L Nielsen
Journal:  Nat Commun       Date:  2015-07-09       Impact factor: 14.919
  2 in total

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