Literature DB >> 4413489

Folic acid non-dependent formiminoglutamic aciduria in two siblings.

A Niederwieser, P Giliberti, A Matasović, S Pluznik, B Steinmann, K Baerlocher.   

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Year:  1974        PMID: 4413489     DOI: 10.1016/0009-8981(74)90248-4

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN: 0009-8981            Impact factor:   3.786


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  6 in total

1.  Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.

Authors:  Rebecca C Ahrens-Nicklas; Rebecca D Ganetzky; Peggy W Rush; Robert L Conway; Can Ficicioglu
Journal:  J Inherit Metab Dis       Date:  2019-01       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.  A case of formiminoglutamic aciduria. Clinical and biochemical studies.

Authors:  M Duran; D Ketting; P K de Bree; F J van Sprang; S K Wadman; T J Penders; R H Wilms
Journal:  Eur J Pediatr       Date:  1981-07       Impact factor: 3.183

4.  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

5.  Formiminoglutamic aciduria in a slightly retarded boy with chronic obstructive lung disease.

Authors:  B Beck; E Christensen; N J Brandt; M Pedersen
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

6.  Formimidoyltransferase cyclodeaminase prevents the starvation-induced liver hepatomegaly and dysfunction through downregulating mTORC1.

Authors:  Wenfeng Zhang; Chaoying Wu; Rui Ni; Qifen Yang; Lingfei Luo; Jianbo He
Journal:  PLoS Genet       Date:  2021-12-23       Impact factor: 5.917

  6 in total

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