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Best matches for Alkaptonuria or ochronosis or alcaptonuria:

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Items: 1 to 20 of 1629

1.

UK-based dermatologist online survey on the current practice and training in the management of melasma and post-inflammatory hyperpigmentation.

Ma Y, Millette D, Nalluri R, Yoo J.

Clin Exp Dermatol. 2020 Feb 15. doi: 10.1111/ced.14197. [Epub ahead of print]

PMID:
32061135
2.

Machine learning application for development of a data-driven predictive model able to investigate quality of life scores in a rare disease.

Spiga O, Cicaloni V, Fiorini C, Trezza A, Visibelli A, Millucci L, Bernardini G, Bernini A, Marzocchi B, Braconi D, Prischi F, Santucci A.

Orphanet J Rare Dis. 2020 Feb 12;15(1):46. doi: 10.1186/s13023-020-1305-0.

3.
4.

Homogentisic acid affects human osteoblastic functionality by oxidative stress and alteration of the Wnt/β-catenin signaling pathway.

Schiavone ML, Millucci L, Bernardini G, Giustarini D, Rossi R, Marzocchi B, Santucci A.

J Cell Physiol. 2020 Jan 28. doi: 10.1002/jcp.29575. [Epub ahead of print]

PMID:
31989660
5.

Alkaptonuria and multilevel intervertebral disc calcification.

Pathak SK, Kumar N, Bagtharia P.

Joint Bone Spine. 2020 Jan 24. pii: S1297-319X(20)30007-5. doi: 10.1016/j.jbspin.2020.01.004. [Epub ahead of print] No abstract available.

PMID:
31988010
6.

Presentation of 14 alkaptonuria patients from Turkey.

Akbaba AI, Ozgül RK, Dursun A.

J Pediatr Endocrinol Metab. 2020 Feb 25;33(2):289-294. doi: 10.1515/jpem-2019-0163.

PMID:
31927521
7.

The color of skin: gray diseases of the skin, nails, and mucosa.

Abdel-Naser MB.

Clin Dermatol. 2019 Sep - Oct;37(5):507-515. doi: 10.1016/j.clindermatol.2019.07.011. Epub 2019 Jul 31.

PMID:
31896405
8.

Passing Strategies and Performative Identities: Coping with (In)Visible Chronic Diseases.

Spratt TJR.

J Med Humanit. 2019 Dec 20. doi: 10.1007/s10912-019-09600-x. [Epub ahead of print]

PMID:
31858350
9.

Topical Treatments for Melasma: A Systematic Review of Randomized Controlled Trials

Austin E, Nguyen JK, Jagdeo J.

J Drugs Dermatol. 2019 Nov 1;18(11). pii: S1545961619P1156X.

PMID:
31741361
10.

[Surgery in the dark - a case of Cardiac Ochronosis].

Pissarra D, Lopez E, Melo DP, Magalhães J, Pinho P.

Rev Port Cir Cardiotorac Vasc. 2019 Jul-Sep;26(3):225-227. Portuguese.

PMID:
31734977
11.

Exogenous Ochronosis as an Elastotic Disease: A Light-Microscopic Approach.

Ho JD, Vashi N, Goldberg LJ.

Am J Dermatopathol. 2019 Nov 12. doi: 10.1097/DAD.0000000000001571. [Epub ahead of print]

PMID:
31725487
12.

Total Knee Arthroplasty in Ochronosis Arthropathy: A Case Report and Systematic Review.

Lee WC, Tan TL, Chan YH.

Case Rep Orthop. 2019 Oct 9;2019:1871856. doi: 10.1155/2019/1871856. eCollection 2019.

13.

Alkaptonuria: Spontaneous Achilles tendon rupture: Case report.

Baca E, Kural A, Ziroglu N, Kural C.

Eklem Hastalik Cerrahisi. 2019 Dec;30(3):325-8. doi: 10.5606/ehc.2019.66155.

14.

Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria.

Ranganath LR, Milan AM, Hughes AT, Khedr M, Davison AS, Shweihdi E, Norman BP, Hughes JH, Bygott H, Luangrath E, Fitzgerald R, Psarelli EE, van Kan C, Laan D, Olsson B, Rudebeck M, Mankowitz L, Sireau N, Arnoux JB, Le Quan Sang KH, Jarvis JC, Genovese F, Braconi D, Santucci A, Zatkova A, Glasova H, Stančík R, Imrich R, Rhodes NP, Gallagher JA.

J Inherit Metab Dis. 2019 Oct 14. doi: 10.1002/jimd.12181. [Epub ahead of print]

PMID:
31609457
15.

Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria.

Hughes JH, Liu K, Plagge A, Wilson PJM, Sutherland H, Norman BP, Hughes AT, Keenan CM, Milan AM, Sakai T, Ranganath LR, Gallagher JA, Bou-Gharios G.

Hum Mol Genet. 2019 Dec 1;28(23):3928-3939. doi: 10.1093/hmg/ddz234.

PMID:
31600782
16.

A robust bacterial assay for high-throughput screening of human 4-hydroxyphenylpyruvate dioxygenase inhibitors.

Neuckermans J, Mertens A, De Win D, Schwaneberg U, De Kock J.

Sci Rep. 2019 Oct 2;9(1):14145. doi: 10.1038/s41598-019-50533-1.

17.

ARTHROPLASTY IN ALKAPTONURIC OCHRONOSIS.

Zmerly H, Moscato M, Di Gregori V.

J Popul Ther Clin Pharmacol. 2019 Jul 26;26(2):e20-e24. doi: 10.15586/jptcp.v26i2.624.

PMID:
31577082
18.

Alkaptonuria - Many questions answered, further challenges beckon.

Davison AS, Hughes AT, Milan AM, Sireau N, Gallagher JA, Ranganath LR.

Ann Clin Biochem. 2019 Oct 15:4563219879957. doi: 10.1177/0004563219879957. [Epub ahead of print] No abstract available.

PMID:
31529982
19.

Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria.

Hughes JH, Wilson PJM, Sutherland H, Judd S, Hughes AT, Milan AM, Jarvis JC, Bou-Gharios G, Ranganath LR, Gallagher JA.

J Inherit Metab Dis. 2019 Sep 10. doi: 10.1002/jimd.12172. [Epub ahead of print]

PMID:
31503358
20.

Unsafe Deposits: Overlapping Cutaneous Manifestations of Porphyria Cutanea Tarda, Ochronosis, Hemochromatosis, and Argyria.

Atmatzidis DH, Hoegler K, Weiss A, Lambert WC, Schwartz RA.

Skinmed. 2019 Sep 9;17(3):161-170. eCollection 2019.

PMID:
31496470

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