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Items: 1 to 20 of 454

1.

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.

Al-Hassnan ZN, Rashed MS, Al-Dirbashi OY, Patay Z, Rahbeeni Z, Abu-Amero KK.

J Neurol Sci. 2008 Jan 15;264(1-2):187-94. Epub 2007 Sep 7.

PMID:
17825324
2.
4.

Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.

Salvi S, Dionisi-Vici C, Bertini E, Verardo M, Santorelli FM.

Hum Mutat. 2001 Nov;18(5):460.

PMID:
11668643
5.

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. doi: 10.1136/jmg.2008.059097.

6.

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Salvi S, Santorelli FM, Bertini E, Boldrini R, Meli C, Donati A, Burlina AB, Rizzo C, Di Capua M, Fariello G, Dionisi-Vici C.

Neurology. 2001 Sep 11;57(5):911-4.

PMID:
11552031
7.

Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.

Camacho JA, Mardach R, Rioseco-Camacho N, Ruiz-Pesini E, Derbeneva O, Andrade D, Zaldivar F, Qu Y, Cederbaum SD.

Pediatr Res. 2006 Oct;60(4):423-9. Epub 2006 Aug 28.

PMID:
16940241
8.

A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome.

Torisu H, Kira R, Kanazawa N, Takemoto M, Sanefuji M, Sakai Y, Tsujino S, Hara T.

Brain Dev. 2006 Jun;28(5):332-5. Epub 2006 Jan 10.

PMID:
16376511
9.

Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.

Tsujino S, Kanazawa N, Ohashi T, Eto Y, Saito T, Kira J, Yamada T.

Ann Neurol. 2000 May;47(5):625-31.

PMID:
10805333
10.

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) presenting with acute fulminant hepatic failure.

Mhanni AA, Chan A, Collison M, Seifert B, Lehotay DC, Sokoro A, Huynh HQ, Greenberg CR.

J Pediatr Gastroenterol Nutr. 2008 Mar;46(3):312-5. doi: 10.1097/MPG.0b013e318145a8e5.

PMID:
18376250
12.

Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.

Miyamoto T, Kanazawa N, Kato S, Kawakami M, Inoue Y, Kuhara T, Inoue T, Takeshita K, Tsujino S.

J Hum Genet. 2001;46(5):260-2.

PMID:
11355015
13.

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.

PMID:
10369256
14.

Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria).

Hommes FA, Roesel RA, Metoki K, Hartlage PL, Dyken PR.

Neuropediatrics. 1986 Feb;17(1):48-52.

PMID:
3960284
15.
17.

HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.

Fecarotta S, Parenti G, Vajro P, Zuppaldi A, Della Casa R, Carbone MT, Correra A, Torre G, Riva S, Dionisi-Vici C, Santorelli FM, Andria G.

J Inherit Metab Dis. 2006 Feb;29(1):186-9.

PMID:
16601889
18.

Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan.

Sokoro AA, Lepage J, Antonishyn N, McDonald R, Rockman-Greenberg C, Irvine J, Lehotay DC.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S275-81. doi: 10.1007/s10545-010-9148-9. Epub 2010 Jun 24.

PMID:
20574716
19.
20.

[Molecular genetic studies of mitochondrial ornithine transporter deficiency (HHH syndrome)].

Tsujino S, Miyamoto T, Kanazawa N.

Nihon Rinsho. 2001 Nov;59(11):2278-84. Review. Japanese.

PMID:
11712419

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