Literature DB >> 7609439

Cerebrospinal fluid organic acids in biotinidase deficiency.

M Duran1, E R Baumgartner, T M Suormala, L Bruinvis, L Dorland, J A Smeitink, B T Poll-The.   

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Year:  1993        PMID： 7609439     DOI： 10.1007/BF00711668

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


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  7 in total

1.  Biotinidase deficiency: metabolites in CSF.

Authors:  A Fois; M Cioni; P Balestri; G Bartalini; R Baumgartner; C Bachmann
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  Cis-4-decenoic acid in plasma: a characteristic metabolite in medium-chain acyl-CoA dehydrogenase deficiency.

Authors:  M Duran; L Bruinvis; D Ketting; J B de Klerk; S K Wadman
Journal:  Clin Chem       Date:  1988-03       Impact factor: 8.327

3.  Different organic acid patterns in urine and in cerebrospinal fluid in a patient with biotinidase deficiency.

Authors:  M Di Rocco; A Superti-Furga; P Durand; R Cerone; C Romano; C Bachmann; R Baumgartner
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

4.  Biotinidase deficiency: a cause of subacute necrotizing encephalomyelopathy (Leigh syndrome). Report of a case with lethal outcome.

Authors:  E R Baumgartner; T M Suormala; H Wick; A Probst; U Blauenstein; C Bachmann; M Vest
Journal:  Pediatr Res       Date:  1989-09       Impact factor: 3.756

5.  Organic acids in post-mortem cerebrospinal fluid.

Authors:  M Coude; P Kamoun
Journal:  Clin Chim Acta       Date:  1992-03-31       Impact factor: 3.786

6.  Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin.

Authors:  N Diamantopoulos; M J Painter; B Wolf; G S Heard; C Roe
Journal:  Neurology       Date:  1986-08       Impact factor: 9.910

7.  A biotinidase Km variant causing late onset bilateral optic neuropathy.

Authors:  V T Ramaekers; T M Suormala; M Brab; R Duran; G Heimann; E R Baumgartner
Journal:  Arch Dis Child       Date:  1992-01       Impact factor: 3.791
  7 in total
  8 in total

1.  Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder.

Authors:  Kirit Pindolia; Megan Jordan; Caiying Guo; Nell Matthews; Donald M Mock; Erin Strovel; Miriam Blitzer; Barry Wolf
Journal:  Mol Genet Metab       Date:  2010-10-13       Impact factor: 4.797

2.  Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology.

Authors:  J Mourmans; J Bakkeren; J de Jong; R Wevers; O P van Diggelen; T Suormala; R Baumgartner; U Wendel
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

3.  Biotinidase Km-variants: detection and detailed biochemical investigations.

Authors:  T Suormala; V T Ramaekers; S Schweitzer; B Fowler; M C Laub; C Schwermer; J Bachmann; E R Baumgartner
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

4.  Cerebral metabolic changes in biotinidase deficiency.

Authors:  M Schürmann; V Engelbrecht; K Lohmeier; H G Lenard; U Wendel; J Gärtner
Journal:  J Inherit Metab Dis       Date:  1997-11       Impact factor: 4.982

5.  Leukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency.

Authors:  Raquel Dodelson de Kremer; Alexandra Latini; Terttu Suormala; E Regula Baumgartner; Laura Laróvere; Gabriel Civallero; Norberto Guelbert; Ana Paschini-Capra; Catalina Depetris-Boldini; Carlos Quiroga Mayor
Journal:  Metab Brain Dis       Date:  2002-03       Impact factor: 3.584

6.  Acylcarnitine profile in tissues and body fluids of biotin-deficient rats with and without L-carnitine supplementation.

Authors:  Y Shigematsu; I L Bykov; Y Y Liu; A Nakai; Y Kikawa; M Sudo; M Fujioka
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

7.  Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: long-term outcome in a case with neonatal onset.

Authors:  W Lehnert; H Niederhoff; T Suormala; E R Baumgartner
Journal:  Eur J Pediatr       Date:  1996-07       Impact factor: 3.183

Review 8.  The 3-methylglutaconic acidurias: what's new?

Authors:  Saskia B Wortmann; Leo A Kluijtmans; Udo F H Engelke; Ron A Wevers; Eva Morava
Journal:  J Inherit Metab Dis       Date:  2010-09-30       Impact factor: 4.982
  8 in total

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