Literature DB >> 3099073

Biotinidase deficiency: metabolites in CSF.

A Fois, M Cioni, P Balestri, G Bartalini, R Baumgartner, C Bachmann.   

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Year:  1986        PMID： 3099073     DOI： 10.1007/bf01799663

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


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  3 in total

1.  Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample.

Authors:  T Suormala; H Wick; J P Bonjour; E R Baumgartner
Journal:  Clin Chim Acta       Date:  1985-01-30       Impact factor: 3.786

2.  Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program.

Authors:  B Wolf; G S Heard; L G Jefferson; V K Proud; W E Nance; K A Weissbecker
Journal:  N Engl J Med       Date:  1985-07-04       Impact factor: 91.245

3.  Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.

Authors:  B J Burri; L Sweetman; W L Nyhan
Journal:  Am J Hum Genet       Date:  1985-03       Impact factor: 11.025
  3 in total
  6 in total

1.  Cerebrospinal fluid organic acids in biotinidase deficiency.

Authors:  M Duran; E R Baumgartner; T M Suormala; L Bruinvis; L Dorland; J A Smeitink; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

2.  Cerebral metabolic change after treatment in biotinidase deficiency.

Authors:  I T Lott; S Lottenberg; W L Nyhan; M J Buchsbaum
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

3.  Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.

Authors:  Wen-Qi Zeng; Eiman Al-Yamani; James S Acierno; Susan Slaugenhaupt; Tammy Gillis; Marcy E MacDonald; Pinar T Ozand; James F Gusella
Journal:  Am J Hum Genet       Date:  2005-05-03       Impact factor: 11.025

Review 4.  Physiology and pathophysiology of organic acids in cerebrospinal fluid.

Authors:  G F Hoffmann; W Meier-Augenstein; S Stöckler; R Surtees; D Rating; W L Nyhan
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

Review 5.  Neurological manifestations of organic acid disorders.

Authors:  G F Hoffmann; K M Gibson; F K Trefz; W L Nyhan; H J Bremer; D Rating
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183

6.  Plasma metabolomic profiles reflective of glucose homeostasis in non-diabetic and type 2 diabetic obese African-American women.

Authors:  Oliver Fiehn; W Timothy Garvey; John W Newman; Kerry H Lok; Charles L Hoppel; Sean H Adams
Journal:  PLoS One       Date:  2010-12-10       Impact factor: 3.240
  6 in total

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