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Results: 1 to 20 of 35

1.

Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency.

Haviv R, Zeharia A, Belaiche C, Haimi Cohen Y, Saada A.

Eur J Pediatr. 2014 Feb;173(2):243-5. doi: 10.1007/s00431-013-2153-x. Epub 2013 Aug 31.

PMID:
23995961
[PubMed - indexed for MEDLINE]
2.

Liver transplantation for urea cycle disorders in pediatric patients: a single-center experience.

Kim IK, Niemi AK, Krueger C, Bonham CA, Concepcion W, Cowan TM, Enns GM, Esquivel CO.

Pediatr Transplant. 2013 Mar;17(2):158-67. doi: 10.1111/petr.12041. Epub 2013 Jan 24.

PMID:
23347504
[PubMed - indexed for MEDLINE]
3.

High prevalence of neonatal presentation in Korean patients with citrullinemia type 1, and their shared mutations.

Lee BH, Kim YM, Heo SH, Kim GH, Choi IH, Lee BS, Kim EA, Kim KS, Jhang WK, Park SJ, Yoo HW.

Mol Genet Metab. 2013 Jan;108(1):18-24. doi: 10.1016/j.ymgme.2012.11.011. Epub 2012 Nov 28.

PMID:
23246278
[PubMed - indexed for MEDLINE]
4.

30-year follow-up of a patient with classic citrullinemia.

Brunetti-Pierri N, Lamance KM, Lewis RA, Craigen WJ.

Mol Genet Metab. 2012 Jun;106(2):248-50. doi: 10.1016/j.ymgme.2012.03.011. Epub 2012 Mar 23.

PMID:
22494546
[PubMed - indexed for MEDLINE]
5.

Urea cycle disorders: brain MRI and neurological outcome.

Bireley WR, Van Hove JL, Gallagher RC, Fenton LZ.

Pediatr Radiol. 2012 Apr;42(4):455-62. doi: 10.1007/s00247-011-2253-6. Epub 2011 Oct 12.

PMID:
21989980
[PubMed - indexed for MEDLINE]
6.

Transient fulminant liver failure as an initial presentation in citrullinemia type I.

Faghfoury H, Baruteau J, de Baulny HO, Häberle J, Schulze A.

Mol Genet Metab. 2011 Apr;102(4):413-7. doi: 10.1016/j.ymgme.2010.12.007. Epub 2010 Dec 16.

PMID:
21227727
[PubMed - indexed for MEDLINE]
7.

The national Austrian newborn screening program - eight years experience with mass spectrometry. past, present, and future goals.

Kasper DC, Ratschmann R, Metz TF, Mechtler TP, Möslinger D, Konstantopoulou V, Item CB, Pollak A, Herkner KR.

Wien Klin Wochenschr. 2010 Nov;122(21-22):607-13. doi: 10.1007/s00508-010-1457-3. Epub 2010 Oct 15.

PMID:
20938748
[PubMed - indexed for MEDLINE]
8.

Recurrent liver failure in a 25-year-old female.

Salek J, Byrne J, Box T, Longo N, Sussman N.

Liver Transpl. 2010 Sep;16(9):1049-53. doi: 10.1002/lt.22118.

PMID:
20818742
[PubMed - indexed for MEDLINE]
Free Article
9.

Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.

Niu DM, Chien YH, Chiang CC, Ho HC, Hwu WL, Kao SM, Chiang SH, Kao CH, Liu TT, Chiang H, Hsiao KJ.

J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S295-305. doi: 10.1007/s10545-010-9129-z. Epub 2010 Jun 22.

PMID:
20567911
[PubMed - indexed for MEDLINE]
10.

First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period.

Häberle J, Vilaseca MA, Meli C, Rigoldi M, Jara F, Vecchio I, Capra C, Parini R.

Eur J Obstet Gynecol Reprod Biol. 2010 Apr;149(2):228-9. doi: 10.1016/j.ejogrb.2009.11.014. Epub 2009 Dec 14. No abstract available.

PMID:
20005624
[PubMed - indexed for MEDLINE]
11.

Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: a possible population cluster.

Laróvere LE, Angaroni CJ, Antonozzi SL, Bezard MB, Shimohama M, de Kremer RD.

Clin Biochem. 2009 Jul;42(10-11):1166-8. doi: 10.1016/j.clinbiochem.2009.03.024. Epub 2009 Apr 7.

PMID:
19358837
[PubMed - indexed for MEDLINE]
12.

Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene.

Engel K, Höhne W, Häberle J.

Hum Mutat. 2009 Mar;30(3):300-7. doi: 10.1002/humu.20847. Review.

PMID:
19006241
[PubMed - indexed for MEDLINE]
13.

Two cases of citrullinaemia presenting with stroke.

Choi JH, Kim H, Yoo HW.

J Inherit Metab Dis. 2006 Feb;29(1):182-3.

PMID:
16601887
[PubMed - indexed for MEDLINE]
14.

Tandem mass spectrometric analysis for disorders in amino, organic and fatty acid metabolism: two year experience in South Korea.

Yoon HR, Lee KR, Kim H, Kang S, Ha Y, Lee DH.

Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:115-20.

PMID:
15906713
[PubMed - indexed for MEDLINE]
15.

Expanded newborn screening by tandem mass spectrometry: the Massachusetts and New England experience.

Marsden D.

Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:111-4.

PMID:
15906712
[PubMed - indexed for MEDLINE]
16.

Early cirrhosis in a patient with type I citrullinaemia (CTLN1).

Güçer S, Aşan E, Atilla P, Tokatli A, Cağlar M.

J Inherit Metab Dis. 2004;27(4):541-2.

PMID:
15334737
[PubMed - indexed for MEDLINE]
17.

Pregnancy in a healthy woman with untreated citrullinemia.

Potter MA, Zeesman S, Brennan B, Kobayashi K, Gao HZ, Tabata A, Saheki T, Whelan DT.

Am J Med Genet A. 2004 Aug 15;129A(1):77-82.

PMID:
15266621
[PubMed - indexed for MEDLINE]
18.

Feasibility of auxiliary partial orthotopic liver transplantation from living donors for patients with adult-onset type II citrullinemia.

Yazaki M, Hashikura Y, Takei Y, Ikegami T, Miyagawa S, Yamamoto K, Tokuda T, Kobayashi K, Saheki T, Ikeda S.

Liver Transpl. 2004 Apr;10(4):550-4.

PMID:
15048800
[PubMed - indexed for MEDLINE]
Free Article
19.

Neonatal citrullinemia: comparison of conventional MR, diffusion-weighted, and diffusion tensor findings.

Majoie CB, Mourmans JM, Akkerman EM, Duran M, Poll-The BT.

AJNR Am J Neuroradiol. 2004 Jan;25(1):32-5.

PMID:
14729525
[PubMed - indexed for MEDLINE]
Free Article
20.

Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1).

Häberle J, Pauli S, Schmidt E, Schulze-Eilfing B, Berning C, Koch HG.

Mol Genet Metab. 2003 Nov;80(3):302-6.

PMID:
14680976
[PubMed - indexed for MEDLINE]
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