-
1
-
-
36549033716
-
Hyper-ornithinemia-Hyperammonemia-Homocitrullinuria syndrome with stroke-like imaging presentation: Clinical, biochemical and molecular analysis
-
Al-Hassnan ZN, Rashed MS, Al-Dirbashi OY et al (2008) Hyper-ornithinemia-Hyperammonemia-Homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis. J Neurol Sci 264:187–194
-
(2008)
J Neurol Sci
, vol.264
, pp. 187-194
-
-
Al-Hassnan, Z.N.1
Rashed, M.S.2
Al-Dirbashi, O.Y.3
-
2
-
-
0001564260
-
Urea cycle enzymes
-
Scriver CR, Beaudet AL, Sly WS, Valle D, McGraw Hill, New York
-
Brusilow SW, Horwich AL (2001) Urea cycle enzymes. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease. McGraw Hill, New York, pp 1909–1964
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 1909-1964
-
-
Brusilow, S.W.1
Horwich, A.L.2
-
3
-
-
70149107343
-
The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the Hyper-ornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome
-
Camacho JA, Rioseco-Camacho N (2009) The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the Hyper-ornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome. Pediatr Res 66:35–41
-
(2009)
Pediatr Res
, vol.66
, pp. 35-41
-
-
Camacho, J.A.1
Rioseco-Camacho, N.2
-
4
-
-
0042890431
-
Cloning and characterization of human ORNT2: A second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome, a urea cycle disorder
-
Camacho JA, Rioseco-Camacho N, Andrade D et al (2003) Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome, a urea cycle disorder. Mol Genet Metab 79:257–271
-
(2003)
Mol Genet Metab
, vol.79
, pp. 257-271
-
-
Camacho, J.A.1
Rioseco-Camacho, N.2
Andrade, D.3
-
5
-
-
33748909137
-
Clinical and functional characterization of a human ORNT1 mutation (T32R) in the Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome
-
Camacho JA, Mardach R, Rioseco-Camacho N et al (2006) Clinical and functional characterization of a human ORNT1 mutation (T32R) in the Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome. Pediatr Res 60:423–429
-
(2006)
Pediatr Res
, vol.60
, pp. 423-429
-
-
Camacho, J.A.1
Mardach, R.2
Rioseco-Camacho, N.3
-
6
-
-
56049118904
-
Phenotypic variability among patients with Hyperornithinaemia-Hyperam-monaemia-Homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15
-
Debray FG, Lambert M, Lemieux B et al (2008) Phenotypic variability among patients with Hyperornithinaemia-Hyperam-monaemia-Homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15. J Med Genet 45:759–764
-
(2008)
J Med Genet
, vol.45
, pp. 759-764
-
-
Debray, F.G.1
Lambert, M.2
Lemieux, B.3
-
7
-
-
0030978412
-
Crystal structure and mechanism of human L-arginine:Glycine amidinotransferase: A mitochondrial enzyme involved in creatine biosynthesis
-
Humm A, Fritsche E, Steinbacher S et al (1997) Crystal structure and mechanism of human L-arginine:glycine amidinotransferase: a mitochondrial enzyme involved in creatine biosynthesis. EMBO J 16:3373–3385
-
(1997)
EMBO J
, vol.16
, pp. 3373-3385
-
-
Humm, A.1
Fritsche, E.2
Steinbacher, S.3
-
8
-
-
0842305094
-
Hyper-ornithinemia-Hyperammonemia-Homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family
-
Korman SH, Kanazawa N, Abu-Libdeh B et al (2004) Hyper-ornithinemia-Hyperammonemia-Homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. J Neurol Sci 218:53–58
-
(2004)
J Neurol Sci
, vol.218
, pp. 53-58
-
-
Korman, S.H.1
Kanazawa, N.2
Abu-Libdeh, B.3
-
9
-
-
46349088952
-
Diseases caused by defects of mitochondrial carriers: A review
-
Palmieri F (2008) Diseases caused by defects of mitochondrial carriers: a review. Biochim Biophys Acta 1777:564–578
-
(2008)
Biochim Biophys Acta
, vol.1777
, pp. 564-578
-
-
Palmieri, F.1
-
11
-
-
66749177843
-
Identification of novel mutations in the SLC25A15 gene in Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study
-
Tessa A, Fiermonte G, Dionisi-Vici C et al (2009) Identification of novel mutations in the SLC25A15 gene in Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. Hum Mutat 30:741–748
-
(2009)
Hum Mutat
, vol.30
, pp. 741-748
-
-
Tessa, A.1
Fiermonte, G.2
Dionisi-Vici, C.3
-
12
-
-
33646103667
-
A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome
-
Torisu H, Kira R, Kanazawa N et al (2006) A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome. Brain Dev 28:332–335
-
(2006)
Brain Dev
, vol.28
, pp. 332-335
-
-
Torisu, H.1
Kira, R.2
Kanazawa, N.3
-
13
-
-
0001115406
-
The hyperornithinemias
-
Scriver CR, Beaudet AL, Sly WS, Valle D, McGraw Hill, New York
-
Valle D, Simell O (2001) The hyperornithinemias. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease. McGraw Hill, New York, pp 1857–1896
-
(2001)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 1857-1896
-
-
Valle, D.1
Simell, O.2
-
14
-
-
78651107601
-
Dual mechanism of brain damage induced in vivo by the major metabolites accumulating in Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome
-
Viegas CM, Busanello EN, Tonin AM et al (2011) Dual mechanism of brain damage induced in vivo by the major metabolites accumulating in Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome. Brain Res 1369:235–244
-
(2011)
Brain Res
, vol.1369
, pp. 235-244
-
-
Viegas, C.M.1
Busanello, E.N.2
Tonin, A.M.3
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