Literature DB >> 3728187

Orotic aciduria, homocystinuria, formiminoglutamic aciduria and megaloblastosis associated with the formiminotransferase/cyclodeaminase deficiency.

Y S Shin, S Reiter, O Zelger, I Brünstler, A von Rücker.   

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Year:  1986        PMID: 3728187     DOI: 10.1007/978-1-4684-5104-7_11

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN: 0065-2598            Impact factor:   2.622


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  3 in total

1.  Benign persistent orotic aciduria and the possibility of misdiagnosis of ornithine carbamoyltransferase deficiency.

Authors:  K H Carpenter; M Potter; J W Hammond; B Wilcken
Journal:  J Inherit Metab Dis       Date:  1997-07       Impact factor: 4.982

2.  Formiminoglutamic/hydantoinpropionic aciduria in two siblings.

Authors:  M Duran; L Dorland; E E Meuleman; P A Renardel de Lavalette; B T Poll-The; R Berger
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

3.  Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease).

Authors:  B Fowler; R B Schutgens; D S Rosenblatt; G P Smit; J Lindemans
Journal:  J Inherit Metab Dis       Date:  1997-11       Impact factor: 4.982

  3 in total

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