Literature DB >> 1245955

Massive pulmonary hemorrhage as a presenting feature in congenital hyperammonemia.

L J Sheffield, D M Danks, J W Hammond, N J Hoogenraad.   

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Year:  1976        PMID： 1245955     DOI： 10.1016/s0022-3476(76)80263-6

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  6 in total

1.  Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity.

Authors:  S Mantagos; S Tsagaraki; E A Burgess; V Oberholzer; T Palmer; J Sacks; S Baibas; T Valaes
Journal:  Arch Dis Child       Date:  1978-03       Impact factor: 3.791

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

Authors:  J P Farriaux; J L Dhondt; R J Pollitt
Journal:  Arch Dis Child       Date:  1980-10       Impact factor: 3.791

3.  Carbamyl phosphate synthetase deficiency with lethal neonatal outcome.

Authors:  J Jaeken; H Devlieger; C Bachmann; J Van Aerde; L Corbeel; E Eggermont
Journal:  Eur J Pediatr       Date:  1982-09       Impact factor: 3.183

4.  Autosomal recessive inheritance of human mitochondrial carbamyl phosphate synthetase deficiency.

Authors:  J W McReynolds; B Crowley; M J Mahoney; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1981-05       Impact factor: 11.025

5.  Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency.

Authors:  D M Becroft; D M Barry; D R Webster; H A Simmonds
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

6.  Pyrimidine and purine metabolites in ornithine carbamoyl transferase deficiency.

Authors:  D R Webster; H A Simmonds; D M Barry; D M Becroft
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982
  6 in total

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