Literature DB >> 13975632

Hyperammonaemia. A new instance of an inborn enzymatic defect of the biosynthesis of urea.

A RUSSELL, B LEVIN, V G OBERHOLZER, L SINCLAIR.   

Abstract

Entities:  

Keywords:  AMINO ACIDURIA; AMMONIA; TRANSFERASES; UREA

Mesh:

Substances:

Year:  1962        PMID: 13975632     DOI: 10.1016/s0140-6736(62)90508-1

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


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  22 in total

Review 1.  INHERITED ENZYME DEFECTS: A REVIEW.

Authors:  T HARGREAVES
Journal:  J Clin Pathol       Date:  1963-07       Impact factor: 3.411

2.  Hyperammonaemia due to ornithine transcarbamylase deficiency.

Authors:  I J Hopkins; J F Connelly; A G Dawson; F J Hird; T G Maddison
Journal:  Arch Dis Child       Date:  1969-04       Impact factor: 3.791

3.  X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.

Authors:  F C Ricciuti; T D Gelehrter; L E Rosenberg
Journal:  Am J Hum Genet       Date:  1976-07       Impact factor: 11.025

4.  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

5.  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

Review 6.  Molecular basis of hereditary disease.

Authors:  H Harris
Journal:  Br Med J       Date:  1968-04-20

7.  Citrullinaemia with rapidly fatal neonatal course.

Authors:  S P Van Der Zee; J M Trijbels; L A Monnens; F A Hommes; E D Schretlen
Journal:  Arch Dis Child       Date:  1971-12       Impact factor: 3.791

Review 8.  [Biochemical and pathophysiological aspects of hyperammonaemia (author's transl)].

Authors:  J Pausch; W Gerok
Journal:  Klin Wochenschr       Date:  1977-02-01

9.  Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing.

Authors:  R Hoshide; T Matsuura; Y Haraguchi; F Endo; M Yoshinaga; I Matsuda
Journal:  J Clin Invest       Date:  1993-05       Impact factor: 14.808

10.  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

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