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Items: 11

1.

High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.

Zatková A, de Bernabé DB, Poláková H, Zvarík M, Feráková E, Bosák V, Ferák V, Kádasi L, de Córdoba SR.

Am J Hum Genet. 2000 Nov;67(5):1333-9. Epub 2000 Oct 2. Erratum in: Am J Hum Genet 2001 May;68(5):1313.

2.

Alkaptonuria in Slovakia: thirty-two years of research on phenotype and genotype.

Srsen S, Müller CR, Fregin A, Srsnova K.

Mol Genet Metab. 2002 Apr;75(4):353-9. Review.

PMID:
12051967
3.

Are we ready to try to cure alkaptonuria?

La Du BN Jr.

Am J Hum Genet. 1998 Apr;62(4):765-7. Review. No abstract available.

4.

Alkaptonuria: a very rare metabolic disorder.

Aquaron R.

Indian J Biochem Biophys. 2013 Oct;50(5):339-44. Review.

PMID:
24772955
5.

Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia.

Canki-Klain N, Milic A, Kovac B, Trlaja A, Grgicevic D, Zurak N, Fardeau M, Leturcq F, Kaplan JC, Urtizberea JA, Politano L, Piluso G, Feingold J.

Am J Med Genet A. 2004 Mar 1;125A(2):152-6. Review.

PMID:
14981715
6.

Redox proteomics gives insights into the role of oxidative stress in alkaptonuria.

Braconi D, Millucci L, Ghezzi L, Santucci A.

Expert Rev Proteomics. 2013 Dec;10(6):521-35. doi: 10.1586/14789450.2013.858020. Review.

PMID:
24206226
7.

The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.

Jensen HK.

Dan Med Bull. 2002 Nov;49(4):318-45. Review.

PMID:
12553167
8.

Alkaptonuria in France: past experience and lessons for the future.

Aquaron RR.

J Inherit Metab Dis. 2011 Dec;34(6):1115-26. doi: 10.1007/s10545-011-9392-7. Epub 2011 Sep 17. Review.

PMID:
21927854
9.

[Alkaptonuria (homogentisic aciduria)].

Takita H.

Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):328-31. Review. Japanese. No abstract available.

PMID:
9590059
10.

Recent advances in management of alkaptonuria (invited review; best practice article).

Ranganath LR, Jarvis JC, Gallagher JA.

J Clin Pathol. 2013 May;66(5):367-73. doi: 10.1136/jclinpath-2012-200877. Epub 2013 Mar 13. Review.

PMID:
23486607
11.

Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.

Arnoux JB, Le Quan Sang KH, Brassier A, Grisel C, Servais A, Wippf J, Dubois S, Sireau N, Job-Deslandre C, Ranganath L, de Lonlay P.

J Inherit Metab Dis. 2015 Sep;38(5):791-6. doi: 10.1007/s10545-015-9844-6. Epub 2015 Apr 10. Review.

PMID:
25860819

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