Results 121 to 130 of about 2,793 (181)

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

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

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

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

Harliku (nitisinone): first FDA-approved disease-modifying therapy for alkaptonuria. [PDF]

Ann Med Surg (Lond)
Chandani HK, Hujjat SFZ, Chandani DK, Khan MS, Mahmoud A.   +4 more
europepmc   +1 more source

A Rare Diagnosis in a Resource-Limited Setting: Alkaptonuria in a Young Dominican Child. [PDF]

Cureus
Ortiz Hernández IY, García Grullon C, Rijo Florimon K, Bueno Fernandez LA, Espaillat Solano L.   +4 more
europepmc   +1 more source

Evaluation of Patients Diagnosed with Inherited Metabolic Diseases in Adulthood. [PDF]

Sisli Etfal Hastan Tip Bul
Gulten ZA, Cetincelik U, Guler A, Guler GB.   +3 more
europepmc   +1 more source

Intraoperative Findings in Total Hip Arthroplasty Leading to a Diagnosis of Alkaptonuria in a Patient With Severe Hip Osteoarthritis Initially Attributed to Rheumatoid Arthritis: A Case Report. [PDF]

Cureus
Tzellios IK, Papageorgiou SC, Tilkidis FA, Pakos EE.   +3 more
europepmc   +1 more source