Literature DB >> 4104881

Lethal neonatal hyperammonaemia due to complete ornithine-transcarbamylase deficiency.

A G Campbell, L E Rosenberg, P J Snodgrass, C T Nuzum.   

Abstract

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Year:  1971        PMID： 4104881     DOI： 10.1016/s0140-6736(71)90931-7

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  6 in total

1.  Hyperammonemia through deficiency of ornithine carbamyl transferase.

Authors:  J P Farriaux; J L Dhondt; L Cathelineau; J Ratel; G Fontaine
Journal:  Z Kinderheilkd       Date:  1974

2.  Hyperammonaemia in 20 families. Biochemical and genetical survey, including investigations in 3 new families.

Authors:  T Palmer; V G Oberholzer; E A Burgess; L J Butler; B Levin
Journal:  Arch Dis Child       Date:  1974-06       Impact factor: 3.791

3.  Unmet Needs of Parents of Children with Urea Cycle Disorders.

Authors:  Mara Scharping; Heiko Brennenstuhl; Sven F Garbade; Beate Wild; Roland Posset; Matthias Zielonka; Stefan Kölker; Markus W Haun; Thomas Opladen
Journal:  Children (Basel)       Date:  2022-05-12

4.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

5.  Autosomal inheritance of phosphoglycerate kinase in the domestic chicken (Gallus domesticus).

Authors:  A E Cam; D W Cooper
Journal:  Biochem Genet       Date:  1978-04       Impact factor: 1.890

6.  Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant.

Authors:  P MacLeod; S Mackenzie; C R Scriver
Journal:  Can Med Assoc J       Date:  1972-09-09       Impact factor: 8.262
  6 in total

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