Results 121 to 130 of about 2,978 (184)

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

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

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

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

Video-Assisted Minimally Invasive Endoscopic Aortic Valve Replacement in a Patient With Alkaptonuria. [PDF]

JACC Case Rep
Origel Romero CA, Krasivskyi I, Salamate S, Bakhtiary F, Eghbalzadeh K.   +4 more
europepmc   +1 more source

Development of a radiographic vertebral severity score for evaluation of disease progression in alkaptonuria. [PDF]

Mol Genet Metab
Rossignol F, Pan KS, Perry MB, Bryant JC, O'Brien KJ, Castillo IJ, Spears KR, Ferreira CR, Murphey MD, Minn MJ, Gahl WA, Introne WJ.   +11 more
europepmc   +1 more source

Functional Characterization of <i>HGD</i> Gene Variants by Minigene Splicing Assay. [PDF]

Int J Mol Sci
Nekrasov A, Shchukina E, Rimskaya B, Zakharova E.   +3 more
europepmc   +1 more source

Ochronotic Deposition in Alkaptonuria: Semiquinone-Mediated Oxidative Coupling and Metabolic Drivers of Homogentisic Acid Accumulation. [PDF]

Int J Mol Sci
Grasso D, Balloni V, Baratto MC, Mucci A, Santucci A, Bernini A.   +5 more
europepmc   +1 more source

Cardiac ochronosis with severe aortic and mitral valve stenosis: a challenge case. [PDF]

J Cardiothorac Surg
Kuş MK, Bozkurt B, Durak T, Arslan İY, Kaplan M.   +4 more
europepmc   +1 more source