Results 111 to 120 of about 2,978 (184)

Plasma Proteomic Signatures in Alkaptonuria. [PDF]

Biology (Basel)
Finetti R, Visibelli A, Roncaglia B, Trezza A, Peruzzi L, Marzocchi B, Spiga O, Cicogni M, Salvini L, Tinti L, Cicaloni V, Cheleschi S, Rossi M, Tinti C, Santucci A.   +14 more
europepmc   +1 more source

Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye. [PDF]

Mol Genet Metab Rep
Arslan S, Ekinci Uğan F, Yaralı O, Kahveci H.   +3 more
europepmc   +1 more source

HGA-Induced Oxidative Stress Impairs Autophagy via Lysosomal Dysfunction in Alkaptonuria. [PDF]

Antioxidants (Basel)
Mastroeni P, Trezza A, Visibelli A, Geminiani M, Santucci A.   +4 more
europepmc   +1 more source

Early-Onset Degenerative Bone Changes as a Manifestation of Alkaptonuria: A Case Report. [PDF]

Cureus
Braga R, Teixeira F, Matos C.
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

Purple urine bag syndrome in a long-term care resident. [PDF]

CMAJ
Nishioka H.
europepmc   +1 more source

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

Alkaptonuria [PDF]

Journal of Medical Genetics, 1985
openaire   +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

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