Results 111 to 120 of about 2,793 (181)

Alkaptonuria in two Colombian patients: identification of HGD variants including a novel finding. [PDF]

BMC Med Genomics
León-Sanabria MC, Zarante-Bahamón AM.
europepmc   +1 more source

Cardiac Manifestations of Alkaptonuria: Aortic Valve Stenosis and Coronary Artery Disease in a 63-Year-Old Patient. [PDF]

JACC Case Rep
Solís Chávez MB, Montero Cruces L, Romiti S, Saiz-Pardo Sanz M, Maroto Castellanos LC.   +4 more
europepmc   +1 more source

Polychondritis and Arthritis in a Patient with Coexisting Alkaptonuria and Psoriasis Vulgaris. [PDF]

Intern Med
Shono K, Kawakami E, Koto S, Fukui S, Jubashi T, Kojima K, Shimizu T, Koike H, Ueki N, Kawakami A.   +9 more
europepmc   +1 more source

Alkaptonuria [PDF]

Journal of Medical Genetics, 1985
openaire   +1 more source

Specific knockout of kidney homogentisate 1,2-dioxygenase reveals that local metabolism of tyrosine and homogentisic acid is negligible in alkaptonuria. [PDF]

Hum Mol Genet
Rutland DA, Norman BP, Hughes JH, Wilson PJM, Sutherland H, Brown RLW, Gallagher JA, Ranganath LR, Bou-Gharios G.   +8 more
europepmc   +1 more source

Effect of Nitisinone on Aortic Stenosis Disease Progression in Patients With Alkaptonuria: An Analysis of the Suitability of Nitisinone in Alkaptonuria (SONIA) 2 Study. [PDF]

Cureus
Bruce C, Meenamkuzhy-Hariharan P, Hussain S, Eleuteri A, Ranganath L, Fisher M, Imrich R, Arnoux JB, Olsson B, Rudebeck M.   +9 more
europepmc   +1 more source

Spontaneous Achilles tendon rupture as the initial presentation of ochronosis: a case report. [PDF]

Int J Surg Case Rep
Al-Zagebah A, Elazab M, Muhtaseb R, Tamimi SNS, Makhlouf TZ.   +4 more
europepmc   +1 more source

Molecular characterization of Alkaptonuria in Brazilian patients. [PDF]

Mol Genet Metab Rep
Moreno CA, de Oliveira Sobrinho RP, Jorente J, Appenzeller S, Meira NGS, Costa LCC, Acosta AX, Brazilian Rare Genomes Project Consortium, Guaragna MS, Steiner CE.   +9 more
europepmc   +1 more source

Case Report: Ochronotic arthropathy mimicking spondyloarthritis: a case-based review of diagnostic pitfalls and a novel likely pathogenic HGD variant. [PDF]

Front Genet
Liu Z, Xu X, Yang Y, Li S, Bai R, Zhang Z, Guo Y, Cui R, Xu J, Liu S.   +9 more
europepmc   +1 more source

Musculoskeletal Manifestations of Alkaptonuria: A Case-Based Review of Literature. [PDF]

Cureus
K A, Kumar S, M V B, Ramadurai S, Mani R.   +4 more
europepmc   +1 more source