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Results: 1 to 20 of 28

1.

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.

PMID:
22649802
[PubMed]
Books & Documents
2.

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]
3.

Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1.

Wang JF, Chou KC.

PLoS One. 2012;7(1):e31048. doi: 10.1371/journal.pone.0031048. Epub 2012 Jan 26.

PMID:
22292090
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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]
5.

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]
6.

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]
7.

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]
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
[PubMed - indexed for MEDLINE]
9.

The use of yeast mitochondria to study the properties of wild-type and mutant human mitochondrial ornithine transporter.

Morizono H, Woolston JE, Colombini M, Tuchman M.

Mol Genet Metab. 2005 Dec;86(4):431-40. Epub 2005 Oct 26.

PMID:
16256388
[PubMed - indexed for MEDLINE]
10.

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]
11.

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]
12.

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]
13.

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
[PubMed - indexed for MEDLINE]
14.

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]
15.

Substrate specificity of the two mitochondrial ornithine carriers can be swapped by single mutation in substrate binding site.

Monné M, Miniero DV, Daddabbo L, Robinson AJ, Kunji ER, Palmieri F.

J Biol Chem. 2012 Mar 9;287(11):7925-34. doi: 10.1074/jbc.M111.324855. Epub 2012 Jan 19.

PMID:
22262851
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

The mitochondrial ornithine transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms.

Fiermonte G, Dolce V, David L, Santorelli FM, Dionisi-Vici C, Palmieri F, Walker JE.

J Biol Chem. 2003 Aug 29;278(35):32778-83. Epub 2003 Jun 13.

PMID:
12807890
[PubMed - indexed for MEDLINE]
Free Article
17.

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]
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.

A genome-wide association study identifies 2 susceptibility Loci for Crohn's disease in a Japanese population.

Yamazaki K, Umeno J, Takahashi A, Hirano A, Johnson TA, Kumasaka N, Morizono T, Hosono N, Kawaguchi T, Takazoe M, Yamada T, Suzuki Y, Tanaka H, Motoya S, Hosokawa M, Arimura Y, Shinomura Y, Matsui T, Matsumoto T, Iida M, Tsunoda T, Nakamura Y, Kamatani N, Kubo M.

Gastroenterology. 2013 Apr;144(4):781-8. doi: 10.1053/j.gastro.2012.12.021. Epub 2012 Dec 22.

PMID:
23266558
[PubMed - indexed for MEDLINE]
20.

The mitochondrial transporter family SLC25: identification, properties and physiopathology.

Palmieri F.

Mol Aspects Med. 2013 Apr-Jun;34(2-3):465-84. doi: 10.1016/j.mam.2012.05.005. Epub 2012 Dec 23. Review.

PMID:
23266187
[PubMed - indexed for MEDLINE]

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