Results 131 to 140 of about 1,396 (170)

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

A Dark Turn in the OR: Incidental Discovery of Ochronosis during Trauma Surgery: A Case Report. [PDF]

J Orthop Case Rep
Parth K, Kothari M, Haider H, Kedar M, Meshram C, Shiyam BS.   +5 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

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

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

Pediatr Nephrol
Gülbahçe A, Muderrisoglu A.
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

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

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

The beta-triketone, nitisinone, kills insecticide-resistant mosquitoes through cuticular uptake

Stavrou-Dowd ZT, Parsons G, Rose C, Brown F, Lees RS, Acosta-Serrano Á, Haines LR.   +6 more
europepmc   +1 more source