Literature DB >> 1886409

Mild form of methylmalonic aciduria misdiagnosed as propionic acidaemia during a ketotic crisis.

I T de Almeida1, M Duran, M F Silva, R Portela, A Cabral, T Tasso, F Eusébio, C Silveira.   

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Year:  1991        PMID： 1886409     DOI： 10.1007/bf01800600

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


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  6 in total

1.  Isolation and identification of methylcitrate, a major metabolic product of propionate in patients with propionic acidemia.

Authors:  T Ando; K Rasmussen; J M Wright; W L Nyhan
Journal:  J Biol Chem       Date:  1972-04-10       Impact factor: 5.157

2.  3-hydroxypropionate: significance of -oxidation of propionate in patients with propionic acidemia and methylmalonic acidemia.

Authors:  T Ando; K Rasmussen; W L Nyhan; D Hull
Journal:  Proc Natl Acad Sci U S A       Date:  1972-10       Impact factor: 11.205

3.  Octanoylglucuronide excretion in patients with a defective oxidation of medium-chain fatty acids.

Authors:  M Duran; D Ketting; R van Vossen; T E Beckeringh; L Dorland; L Bruinvis; S K Wadman
Journal:  Clin Chim Acta       Date:  1985-11-15       Impact factor: 3.786

4.  Benign methylmalonic aciduria.

Authors:  F D Ledley; H L Levy; V E Shih; R Benjamin; M J Mahoney
Journal:  N Engl J Med       Date:  1984-10-18       Impact factor: 91.245

5.  The natural history of the inherited methylmalonic acidemias.

Authors:  S M Matsui; M J Mahoney; L E Rosenberg
Journal:  N Engl J Med       Date:  1983-04-14       Impact factor: 91.245

6.  The variability of metabolite excretion in propionicacidaemia.

Authors:  M Duran; D Gompertz; L Bruinvis; D Ketting; S K Wadman
Journal:  Clin Chim Acta       Date:  1978-01-02       Impact factor: 3.786
  6 in total
  1 in total

1.  Group tests for selective screening of inborn errors of metabolism.

Authors:  M Duran; L Dorland; S K Wadman; R Berger
Journal:  Eur J Pediatr       Date:  1994       Impact factor: 3.183
  1 in total

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