Literature DB >> 3148074

Intrafamilial phenotypic variability in citrullinaemia: report of a family.

A R Issa1, G Yadav, A S Teebi.   

Abstract

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Year:  1988        PMID： 3148074     DOI： 10.1007/bf01800377

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


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  2 in total

1.  Citrullinemia: enzymatic evidence for genetic heterogeneity.

Authors:  N G Kennaway; P J Harwood; D A Ramberg; R D Koler; N R Buist
Journal:  Pediatr Res       Date:  1975-06       Impact factor: 3.756

2.  Citrullinemia: phenotypic variations.

Authors:  D T Whelan; T Brusso; M Spate
Journal:  Pediatrics       Date:  1976-06       Impact factor: 7.124
  2 in total
  3 in total

1.  Favorable long-term outcome following severe neonatal hyperammonemic coma in a patient with argininosuccinate synthetase deficiency.

Authors:  Isabelle De Bie; Emmanuelle Lemyre; Marie Lambert
Journal:  JIMD Rep       Date:  2011-06-22

Review 2.  Autosomal recessive disorders among Arabs: an overview from Kuwait.

Authors:  A S Teebi
Journal:  J Med Genet       Date:  1994-03       Impact factor: 6.318

3.  Hyperammonemic Encephalopathy in an Adolescent Patient of Citrullinemia Type 1 With an Atypical Presentation.

Authors:  Samir Ruxmohan; Jonathan Quinonez; Jinal Choudhari; Sujan Poudel; Krunal Pandav
Journal:  Cureus       Date:  2021-05-19
  3 in total

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