Results 111 to 120 of about 968 (157)

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

CRISPR/Cas9 gene therapy increases the risk of tumorigenesis in the mouse model of hereditary tyrosinemia type I. [PDF]

JHEP Rep
Chen T, Barzi M, Furey N, Kim HR, Pankowicz FP, Legras X, Elsea SH, Hurley AE, Yang D, Wheeler DA, Borowiak M, Bissig-Choisat B, Sumazin P, Bissig KD.   +13 more
europepmc   +1 more source

Untargeted Metabolomics Reveals Metabolic Reprogramming Linked to HCC Risk in Late Diagnosed Tyrosinemia Type 1. [PDF]

Metabolites
Sidorina A, Rizzo C, Leal-Witt MJ, Arias C, Cortés I, Cornejo V, Sacchetti E, Catesini G, Boenzi S, Dionisi-Vici C, Fuenzalida K.   +10 more
europepmc   +1 more source

Evaluation of serum NEAT1 and MALAT1 expression as diagnostic biomarkers in tyrosinemia, a rare metabolic disorder. [PDF]

Orphanet J Rare Dis
Motazedian N, Mohammadi M, Azarpira N, Falamarzi K, Geramizadeh B, Dehghani SM, Hossein-Aghdaie M, Malekhosseini SA, Dara M.   +8 more
europepmc   +1 more source

Diagnosing alkaptonuria-related nephropathy with urine albumin analysis. [PDF]

Pediatr Nephrol
Gülbahçe A, Muderrisoglu A.
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

Hepatocellular carcinoma in a child with hereditary tyrosinemia type I despite early NTBC therapy: When should we suspect it? [PDF]

Radiol Case Rep
Ouassou KL, Abilkassem R.
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

Patient-reported outcomes and functional assessments of patients with Alkaptonuria in a 3-year Nitisinone treatment trial. [PDF]

Mol Genet Metab
Spears KR, Rossignol F, Perry MB, Kayser MA, Suwannarat P, O'Brien KE, Bryant JC, Greenwood WF, Fuller S, Gahl WA, Introne WJ.   +10 more
europepmc   +1 more source