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11 in total

1. Ornithine transcarbamylase deficiency: a case with a truncated enzyme precursor and a case with undetectable mRNA activity.

Authors: H Kodama; A Ohtake; M Mori; I Okabe; M Tatibana; S Kamoshita
Journal: J Inherit Metab Dis Date: 1986 Impact factor: 4.982

2. 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

3. 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

4. Molecular basis of ornithine transcarbamylase deficiency lacking enzyme protein.

Authors: T Saheki; Y Imamura; I Inoue; S Miura; M Mori; A Ohtake; M Tatibana; N Katsumata; T Ohno
Journal: J Inherit Metab Dis Date: 1984 Impact factor: 4.982

5. Autosomal genetic control of the activity of a new variant ornithine transcarbamylase in chicken kidney.

Authors: S Tsuji; T Fukushima
Journal: Biochem Genet Date: 1976-06 Impact factor: 1.890

6. 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

7. Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy.

Authors: W Holzgreve; M S Golbus
Journal: Am J Hum Genet Date: 1984-03 Impact factor: 11.025

8. Hypoxanthine-guanine phosphoribosyltransferase variant associated with accelerated purine synthesis.

Authors: P J Benke; N Herrick; A Hebert
Journal: J Clin Invest Date: 1973-09 Impact factor: 14.808

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

Authors: C van der Heiden; H D Bakker; J Desplanque; M Brink; P K de Bree; S K Wadman
Journal: Eur J Pediatr Date: 1978-07-19 Impact factor: 3.183

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

Authors: A Zimmermann; C Bachmann; G Schubiger
Journal: Virchows Arch A Pathol Anat Histopathol Date: 1985