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Results: 1 to 20 of 41

1.

Tyrosinemia type 1: an overview of nursing care.

Barnby E.

Pediatr Nurs. 2014 Mar-Apr;40(2):61-8, 90. Review.

PMID:
24941508
[PubMed - indexed for MEDLINE]
2.

Recommendations for the management of tyrosinaemia type 1.

de Laet C, Dionisi-Vici C, Leonard JV, McKiernan P, Mitchell G, Monti L, de Baulny HO, Pintos-Morell G, Spiekerkötter U.

Orphanet J Rare Dis. 2013 Jan 11;8:8. doi: 10.1186/1750-1172-8-8. Review.

PMID:
23311542
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Hepatorenal tyrosinemia.

Kitagawa T.

Proc Jpn Acad Ser B Phys Biol Sci. 2012;88(5):192-200. Review.

PMID:
22687740
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

[Tandem mass spectrometry as screening for inborn errors of metabolism].

Campos H D.

Rev Med Chil. 2011 Oct;139(10):1356-64. doi: /S0034-98872011001000017. Epub 2012 Jan 3. Review. Spanish.

PMID:
22286738
[PubMed - indexed for MEDLINE]
Free Article
5.

Acute liver failure in children.

Devictor D, Tissieres P, Afanetti M, Debray D.

Clin Res Hepatol Gastroenterol. 2011 Jun;35(6-7):430-7. doi: 10.1016/j.clinre.2011.03.005. Epub 2011 Apr 30. Review.

PMID:
21531191
[PubMed - indexed for MEDLINE]
6.

Novel techniques and newer markers for the evaluation of "proximal tubular dysfunction".

Ludwig M, Sethi SK.

Int Urol Nephrol. 2011 Dec;43(4):1107-15. doi: 10.1007/s11255-011-9914-0. Epub 2011 Mar 1. Review.

PMID:
21360162
[PubMed - indexed for MEDLINE]
7.

Hypermethioninemias of genetic and non-genetic origin: A review.

Mudd SH.

Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):3-32. doi: 10.1002/ajmg.c.30293. Epub 2011 Feb 9. Review.

PMID:
21308989
[PubMed - indexed for MEDLINE]
8.

Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.

Ferrer-Bolufer I, Dalmau J, Quiroga R, Oltra S, Orellana C, Monfort S, Roselló M, De La Osa A, Martinez F.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S349-53. doi: 10.1007/s10545-009-9014-9. Epub 2009 Dec 23. Review.

PMID:
20033293
[PubMed - indexed for MEDLINE]
9.

Risk of HCC: genetic heterogeneity and complex genetics.

Dragani TA.

J Hepatol. 2010 Feb;52(2):252-7. doi: 10.1016/j.jhep.2009.11.015. Epub 2009 Nov 24. Review.

PMID:
20022654
[PubMed - indexed for MEDLINE]
Free Article
10.

Experience of nitisinone for the pharmacological treatment of hereditary tyrosinaemia type 1.

Santra S, Baumann U.

Expert Opin Pharmacother. 2008 May;9(7):1229-36. doi: 10.1517/14656566.9.7.1229. Review.

PMID:
18422479
[PubMed - indexed for MEDLINE]
11.

Gene therapy for liver enzyme deficiencies: what have we learned from models for Crigler-Najjar and tyrosinemia?

Nguyen TH, Ferry N.

Expert Rev Gastroenterol Hepatol. 2007 Oct;1(1):155-71. doi: 10.1586/17474124.1.1.155. Review.

PMID:
19072443
[PubMed - indexed for MEDLINE]
12.

A journey of hope: lessons learned from studies on rare diseases and orphan drugs.

Wästfelt M, Fadeel B, Henter JI.

J Intern Med. 2006 Jul;260(1):1-10. Review.

PMID:
16789973
[PubMed - indexed for MEDLINE]
13.

The genetic tyrosinemias.

Scott CR.

Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):121-6. Review.

PMID:
16602095
[PubMed - indexed for MEDLINE]
14.

Current strategies for the treatment of hereditary tyrosinemia type I.

Ashorn M, Pitkänen S, Salo MK, Heikinheimo M.

Paediatr Drugs. 2006;8(1):47-54. Review.

PMID:
16494511
[PubMed - indexed for MEDLINE]
15.

Site-specific integration with phiC31 integrase for prolonged expression of therapeutic genes.

Ginsburg DS, Calos MP.

Adv Genet. 2005;54:179-87. Review.

PMID:
16096012
[PubMed - indexed for MEDLINE]
16.

Awakening gene therapy with Sleeping Beauty transposons.

Essner JJ, McIvor RS, Hackett PB.

Curr Opin Pharmacol. 2005 Oct;5(5):513-9. Review.

PMID:
16084771
[PubMed - indexed for MEDLINE]
17.

Metabolic liver disease in the pediatric patient.

Kelly DA, McKiernan PJ.

Clin Liver Dis. 1998 Feb;2(1):1-30, v. Review.

PMID:
15560043
[PubMed - indexed for MEDLINE]
18.

[Hereditary tyrosinemia: an endoplasmic reticulum stress disorder?].

Bergeron A, Jorquera R, Tanguay RM.

Med Sci (Paris). 2003 Oct;19(10):976-80. Review. French.

PMID:
14613010
[PubMed - indexed for MEDLINE]
Free Article
19.

In vivo reversion to normal of inherited mutations in humans.

Hirschhorn R.

J Med Genet. 2003 Oct;40(10):721-8. Review.

PMID:
14569115
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

[Inborn errors of amino acid metabolism and convulsions].

Endo F.

Ryoikibetsu Shokogun Shirizu. 2002;(37 Pt 6):157-61. Review. Japanese. No abstract available.

PMID:
12483852
[PubMed - indexed for MEDLINE]

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