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Results: 1 to 20 of 164

1.

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
[PubMed - indexed for MEDLINE]
2.

Hyperornithinemia, hyperammonemia, and 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, Gutman A, Tsujino S.

J Neurol Sci. 2004 Mar 15;218(1-2):53-8.

PMID:
14759633
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
18978333
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

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, Paradies E, Baumgartner MR, Chien YH, Loguercio C, de Baulny HO, Nassogne MC, Schiff M, Deodato F, Parenti G, Rutledge SL, Vilaseca MA, Melone MA, Scarano G, Aldamiz-Echevarría L, Besley G, Walter J, Martinez-Hernandez E, Hernandez JM, Pierri CL, Palmieri F, Santorelli FM.

Hum Mutat. 2009 May;30(5):741-8. doi: 10.1002/humu.20930.

PMID:
19242930
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

A novel mutation, P126R, in a Japanese patient with HHH syndrome.

Miyamoto T, Kanazawa N, Hayakawa C, Tsujino S.

Pediatr Neurol. 2002 Jan;26(1):65-7.

PMID:
11814739
[PubMed - indexed for MEDLINE]
10.

A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein.

Ersoy Tunalı N, Marobbio CM, Tiryakioğlu NO, Punzi G, Saygılı SK, Onal H, Palmieri F.

Mol Genet Metab. 2014 May;112(1):25-9. doi: 10.1016/j.ymgme.2014.03.002. Epub 2014 Mar 20.

PMID:
24721342
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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
[PubMed - indexed for MEDLINE]
12.

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
[PubMed - indexed for MEDLINE]
13.

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome.

Camacho J, Rioseco-Camacho N.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2012 May 31.

14.

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
[PubMed - indexed for MEDLINE]
15.

[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
[PubMed - indexed for MEDLINE]
16.
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
[PubMed - indexed for MEDLINE]
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.

PMID:
10369256
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

Long-term follow-up of four patients affected by HHH syndrome.

Kim SZ, Song WJ, Nyhan WL, Ficicioglu C, Mandell R, Shih VE.

Clin Chim Acta. 2012 Jul 11;413(13-14):1151-5. doi: 10.1016/j.cca.2012.03.015. Epub 2012 Mar 23.

PMID:
22465082
[PubMed - indexed for MEDLINE]

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