Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 12

1.

Neglected Alkaptonuric Patient Presenting with Steppage Gait.

Mirzashahi B, Tafakhori A, Najafi A, Farzan M.

Arch Bone Jt Surg. 2016 Apr;4(2):188-91.

2.

A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria.

Porfirio B, Sestini R, Gorelli G, Cordovana M, Mannoni A, Usher JL, Introne WJ, Gahl WA, Vilboux T.

JIMD Rep. 2016;30:45-52. Epub 2016 Mar 10.

3.

Twelve novel HGD gene variants identified in 99 alkaptonuria patients: focus on 'black bone disease' in Italy.

Nemethova M, Radvanszky J, Kadasi L, Ascher DB, Pires DE, Blundell TL, Porfirio B, Mannoni A, Santucci A, Milucci L, Sestini S, Biolcati G, Sorge F, Aurizi C, Aquaron R, Alsbou M, Lourenço CM, Ramadevi K, Ranganath LR, Gallagher JA, van Kan C, Hall AK, Olsson B, Sireau N, Ayoob H, Timmis OG, Sang KH, Genovese F, Imrich R, Rovensky J, Srinivasaraghavan R, Bharadwaj SK, Spiegel R, Zatkova A.

Eur J Hum Genet. 2016 Jan;24(1):66-72. doi: 10.1038/ejhg.2015.60. Epub 2015 Mar 25.

4.

Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations.

Usher JL, Ascher DB, Pires DE, Milan AM, Blundell TL, Ranganath LR.

JIMD Rep. 2015;24:3-11. doi: 10.1007/8904_2014_380. Epub 2015 Feb 15.

5.

First report of a deletion encompassing an entire exon in the homogentisate 1,2-dioxygenase gene causing alkaptonuria.

Zouheir Habbal M, Bou-Assi T, Zhu J, Owen R, Chehab FF.

PLoS One. 2014 Sep 18;9(9):e106948. doi: 10.1371/journal.pone.0106948. eCollection 2014.

6.

Multi-tissue computational modeling analyzes pathophysiology of type 2 diabetes in MKR mice.

Kumar A, Harrelson T, Lewis NE, Gallagher EJ, LeRoith D, Shiloach J, Betenbaugh MJ.

PLoS One. 2014 Jul 16;9(7):e102319. doi: 10.1371/journal.pone.0102319. eCollection 2014.

7.

Alkaptonuria.

Mistry JB, Bukhari M, Taylor AM.

Rare Dis. 2013 Dec 18;1:e27475. doi: 10.4161/rdis.27475. eCollection 2013. Review.

8.

Adaptation of phenylalanine and tyrosine catabolic pathway to hibernation in bats.

Pan YH, Zhang Y, Cui J, Liu Y, McAllan BM, Liao CC, Zhang S.

PLoS One. 2013 Apr 19;8(4):e62039. doi: 10.1371/journal.pone.0062039. Print 2013.

9.

Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.

Zatkova A, Sedlackova T, Radvansky J, Polakova H, Nemethova M, Aquaron R, Dursun I, Usher JL, Kadasi L.

JIMD Rep. 2012;4:55-65. doi: 10.1007/8904_2011_68. Epub 2011 Oct 20.

10.

Phenylalanine hydroxylase from Legionella pneumophila is a thermostable enzyme with a major functional role in pyomelanin synthesis.

Flydal MI, Chatfield CH, Zheng H, Gunderson FF, Aubi O, Cianciotto NP, Martinez A.

PLoS One. 2012;7(9):e46209. doi: 10.1371/journal.pone.0046209. Epub 2012 Sep 26.

11.

Computational methods to work as first-pass filter in deleterious SNP analysis of alkaptonuria.

Magesh R, George Priya Doss C.

ScientificWorldJournal. 2012;2012:738423. doi: 10.1100/2012/738423. Epub 2012 Apr 19.

12.

Genetic basis of cystinosis in Turkish patients: a single-center experience.

Topaloglu R, Vilboux T, Coskun T, Ozaltin F, Tinloy B, Gunay-Aygun M, Bakkaloglu A, Besbas N, van den Heuvel L, Kleta R, Gahl WA.

Pediatr Nephrol. 2012 Jan;27(1):115-21. doi: 10.1007/s00467-011-1942-6. Epub 2011 Jul 24.

Supplemental Content

Support Center