Literature DB >> 4749002

Citrullinemia, report of a case, with studies on antenatal diagnosis.

F H Roerdink, W L Gouw, A Okken, J F van der Blij, G Luit-de Haan, F A Hommes, H J Huisjes.   

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Year:  1973        PMID： 4749002     DOI： 10.1203/00006450-197311000-00001

Source DB:  PubMed          Journal:  Pediatr Res        ISSN： 0031-3998            Impact factor:   3.756


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  7 in total

1.  Neuropathology of citrullinaemia.

Authors:  J J Martin; J P Farriaux; P De Jonghe
Journal:  Acta Neuropathol       Date:  1982       Impact factor: 17.088

Review 2.  Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency.

Authors:  Takeyori Saheki; Keiko Kobayashi; Mikio Iijima; Ikumi Nishi; Tomotsugu Yasuda; Naoki Yamaguchi; Hong Zhi Gao; Md Abdul Jalil; Laila Begum; Meng Xian Li
Journal:  Metab Brain Dis       Date:  2002-12       Impact factor: 3.584

3.  Acute neonatal and benign citrullinaemia in one sibship.

Authors:  E A Burgess; V G Oberholzer; J M Semmens; J Stern
Journal:  Arch Dis Child       Date:  1978-02       Impact factor: 3.791

4.  Citrullinemia.

Authors:  J Leibowitz; J Thoene; E Spector; W Nyhan
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1978-03-10

5.  Complementation analysis in fibroblasts from eight patients with clinically different forms of citrullinaemia.

Authors:  N G Kennaway; H C Curtis
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

6.  Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples.

Authors:  N J Hoogenraad; J D Mitchell; N A Don; T M Sutherland; A C Mc Leay
Journal:  Arch Dis Child       Date:  1980-04       Impact factor: 3.791

7.  Citrullinaemia: the possibility of prenatal diagnosis.

Authors:  E Christensen; N J Brandt; J Philip; N G Kennaway
Journal:  J Inherit Metab Dis       Date:  1980       Impact factor: 4.982
  7 in total

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