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Results: 1 to 20 of 106

Similar articles for PubMed (Select 22465082)

1.

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
2.

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
3.

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition.

Filosto M, Alberici A, Tessa A, Padovani A, Santorelli FM.

Neurol Sci. 2013 Sep;34(9):1699-701. doi: 10.1007/s10072-012-1266-8. Epub 2012 Dec 18. No abstract available.

PMID:
23247599
5.

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
6.

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
7.

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
8.

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.

10.

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
11.

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.

12.
13.

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
14.

[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
15.

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
16.

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome.

Camacho J, Rioseco-Camacho N.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2012 May 31.

17.

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
18.

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
19.

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
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