138 related articles for article (PubMed ID: 7644438)
1. Prenatal exclusion of the HHH syndrome.
Gray RG; Green A; Hall S; McKeown C
Prenat Diagn; 1995 May; 15(5):474-6. PubMed ID: 7644438
[TBL] [Abstract][Full Text] [Related]
2. Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis.
Shih VE; Laframboise R; Mandell R; Pichette J
Prenat Diagn; 1992 Sep; 12(9):717-23. PubMed ID: 1438066
[No Abstract] [Full Text] [Related]
3. Potential for the prenatal diagnosis of hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
Chadefaux B; Bonnefont JP; Rabier D; Shih VE; Saudubray JM; Kamoun P
Am J Med Genet; 1989 Feb; 32(2):264. PubMed ID: 2929667
[No Abstract] [Full Text] [Related]
4. Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts.
Botschner J; Smith DW; Simell O; Scriver CR
J Inherit Metab Dis; 1989; 12(1):33-40. PubMed ID: 2501580
[TBL] [Abstract][Full Text] [Related]
5. Defective ornithine metabolism in the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria.
Shih VE; Mandell R; Herzfeld A
J Inherit Metab Dis; 1981; 4(2):95-6. PubMed ID: 6790865
[No Abstract] [Full Text] [Related]
6. A new family affected by the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria.
Rodes M; Ribes A; Pineda M; Alvarez L; Fabregas I; Fernandez Alvarez E; Coude FX; Grimber G
J Inherit Metab Dis; 1987; 10(1):73-81. PubMed ID: 3106719
[TBL] [Abstract][Full Text] [Related]
7. A new patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria treated early with low protein diet.
Gjessing LR; Lunde HA; Undrum T; Broch H; Alme A; Lie SO
J Inherit Metab Dis; 1986; 9(2):186-92. PubMed ID: 3091924
[TBL] [Abstract][Full Text] [Related]
8. Reduced ornithine catabolism in cultured fibroblasts and phytohaemagglutinin-stimulated lymphocytes from a patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria.
Gray RG; Hill SE; Pollitt RJ
Clin Chim Acta; 1982 Feb; 118(2-3):141-8. PubMed ID: 6120052
[No Abstract] [Full Text] [Related]
9. Abnormality of citrulline synthesis in liver mitochondria from patients with hyperornithinaemia, hyperammonaemia and homocitrullinuria.
Inoue I; Koura M; Saheki T; Kayanuma K; Uono M; Nakajima M; Takeshita K; Koike R; Yuasa T; Miyatake T
J Inherit Metab Dis; 1987; 10(3):277-80. PubMed ID: 3123793
[No Abstract] [Full Text] [Related]
10. The mechanism of hyperammonaemia and hyperornithinaemia in the syndrome of hyperornithinaemia, hyperammonaemia with homocitrullinuria.
Oyanagi K; Tsuchiyama A; Itakura Y; Sogawa H; Wagatsuma K; Nakao T; Sakamoto S; Yachi A
J Inherit Metab Dis; 1983; 6(3):133-4. PubMed ID: 6422148
[No Abstract] [Full Text] [Related]
11. Neonatal onset of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with favorable outcome.
Zammarchi E; Ciani F; Pasquini E; Buonocore G; Shih VE; Donati MA
J Pediatr; 1997 Sep; 131(3):440-3. PubMed ID: 9329423
[TBL] [Abstract][Full Text] [Related]
12. Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuria.
Shih VE; Mandell R; Herzfeld A
Clin Chim Acta; 1982 Feb; 118(2-3):149-57. PubMed ID: 7055977
[TBL] [Abstract][Full Text] [Related]
13. Studies on the pathway from ornithine to proline in cultured skin fibroblasts with reference to the defect in hyperornithinaemia with hyperammonaemia and homocitrullinuria.
Gray RG; Hill SE; Pollitt RJ
J Inherit Metab Dis; 1983; 6(4):143-8. PubMed ID: 6422153
[TBL] [Abstract][Full Text] [Related]
14. 3-Aminopiperid-2-one, an unusual metabolite in the urine of a patient with hyperammonaemia, hyperornithinaemia and homocitrullinuria.
Fell V; Pollitt RJ
Clin Chim Acta; 1978 Aug; 87(3):405-9. PubMed ID: 679476
[TBL] [Abstract][Full Text] [Related]
15. Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Nakajima M; Ishii S; Mito T; Takeshita K; Takashima S; Takakura H; Inoue I; Saheki T; Akiyoshi H; Ichihara K
Brain Dev; 1988; 10(3):181-5. PubMed ID: 3407856
[TBL] [Abstract][Full Text] [Related]
16. Hyperornithinemia, hyperammonemia, homocitrullinuria (HHH) syndrome: presentation as acute liver disease with coagulopathy.
Smith L; Lambert MA; Brochu P; Jasmin G; Qureshi IA; Seidman EG
J Pediatr Gastroenterol Nutr; 1992 Nov; 15(4):431-6. PubMed ID: 1469525
[No Abstract] [Full Text] [Related]
17. Proceedings: Hepatic ultrastructure in a child with carbamyl phosphate synthetase deficiency, hyperornithinaemia, hyperammonaemia, and homocitrullinuria.
Haust MD; Gatfield PD
Arch Dis Child; 1975 Aug; 50(8):663. PubMed ID: 173245
[No Abstract] [Full Text] [Related]
18. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.
Camacho JA; Obie C; Biery B; Goodman BK; Hu CA; Almashanu S; Steel G; Casey R; Lambert M; Mitchell GA; Valle D
Nat Genet; 1999 Jun; 22(2):151-8. PubMed ID: 10369256
[TBL] [Abstract][Full Text] [Related]
19. Gestational age-related reference values for amniotic fluid amino acids: a useful tool for prenatal diagnosis of aminoacidopathies.
Rabier D; Chadefaux-Vekemans B; Oury JF; Aupetit J; Bardet J; Gasquet M; Merhand E; Parvy P; Kamoun P
Prenat Diagn; 1996 Jul; 16(7):623-8. PubMed ID: 8843471
[TBL] [Abstract][Full Text] [Related]
20. Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.
Debray FG; Lambert M; Lemieux B; Soucy JF; Drouin R; Fenyves D; Dubé J; Maranda B; Laframboise R; Mitchell GA
J Med Genet; 2008 Nov; 45(11):759-64. PubMed ID: 18978333
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
