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Literature DB >> 21032452

Hyperammonaemia due to ornithine transcarbamylase deficiency.

I J Hopkins, J F Connelly, A G Dawson, F J Hird, T G Maddison.

Abstract

Entities: Gene

Year: 1969 PMID： 21032452 PMCID： PMC2020044 DOI： 10.1136/adc.44.234.143

Source DB: PubMed Journal: Arch Dis Child ISSN： 0003-9888 Impact factor: 3.791

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8 in total

1. Comparative biochemistry of urea synthesis. I. Methods for the quantitative assay of urea cycle enzymes in liver.

Authors: G W BROWN; P P COHEN
Journal: J Biol Chem Date: 1959-07 Impact factor: 5.157

2. CONGENITAL LYSINE INTOLERANCE WITH PERIODIC AMMONIA INTOXICATION.

Authors: R RICHTERICH; A DONATH; A SPAHR; E ROSSI
Journal: Lancet Date: 1964-05-09 Impact factor: 79.321

3. CITRULLINURIA.

Authors: W C MCMURRAY; J C RATHBUN; F MOHYUDDIN; S J KOEGLER
Journal: Pediatrics Date: 1963-09 Impact factor: 7.124

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

Authors: A RUSSELL; B LEVIN; V G OBERHOLZER; L SINCLAIR
Journal: Lancet Date: 1962-10-06 Impact factor: 79.321

5. Argininosuccinic aciduria: identification and reactions of the abnormal metabolite in a newly described form of mental disease, with some preliminary metabolic studies.

Authors: R G WESTALL
Journal: Biochem J Date: 1960-10 Impact factor: 3.857

6. Peritoneal dialysis in the reduction of blood ammonia levels in a case of hyperammonaemia.

Authors: J T Herrin; D A McCredie
Journal: Arch Dis Child Date: 1969-04 Impact factor: 3.791

7. Free amino-acids in human sweat from different parts of the body.

Authors: B Hadorn; F Hanimann; P Anders; H C Curtius; R Halverson
Journal: Nature Date: 1967-07-22 Impact factor: 49.962

8. Treatment of hyperammonemia.

Authors: B Levin; A Russell
Journal: Am J Dis Child Date: 1967-01

8 in total

7 in total

1. Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females.

Authors: Kathryn Clarkston; Joy Lee; Sarah Donoghue; Heidi Peters; Hernan Eiroa; Amit A Shah; Kathleen Loomes; Jessica Wen; Mark Oliver; Winita Hardikar; Carlos E Prada; Akihiro Asai
Journal: Am J Med Genet A Date: 2020-12-24 Impact factor: 2.802

Hyperammonaemia due to ornithine transcarbamylase deficiency.

1. Comparative biochemistry of urea synthesis. I. Methods for the quantitative assay of urea cycle enzymes in liver.

2. CONGENITAL LYSINE INTOLERANCE WITH PERIODIC AMMONIA INTOXICATION.

3. CITRULLINURIA.

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

5. Argininosuccinic aciduria: identification and reactions of the abnormal metabolite in a newly described form of mental disease, with some preliminary metabolic studies.

6. Peritoneal dialysis in the reduction of blood ammonia levels in a case of hyperammonaemia.

7. Free amino-acids in human sweat from different parts of the body.

8. Treatment of hyperammonemia.

1. Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females.

2. Hyperammonemia through deficiency of ornithine carbamyl transferase.

3. Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.

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

5. Attempted dietary treatment of a boy with hyperammonemia due to ornithine transferase deficiency.

6. Citrullinemia.

7. Liver pathology in a new congenital disorder of urea synthesis: N-acetylglutamate synthetase deficiency.