Results 121 to 130 of about 1,396 (170)

Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study. [PDF]

Orphanet J Rare Dis
Antoni G, Kumps C, Berger J, Barman-Aksözen J, Tran C.   +4 more
europepmc   +1 more source

In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Features of Corneal Pseudodendritic Lesions in Hereditary Tyrosinemia Type 1. [PDF]

Am J Case Rep
Bruno R, Donatelli S, Mastropasqua L, Nubile M.   +3 more
europepmc   +1 more source

Drug-induced cataract: a real-world study based on the food and drug administration adverse event reporting system database. [PDF]

Front Med (Lausanne)
Cao X, Zhou X, Wu S, Zeng J, Ou Y, Zhou Q.   +5 more
europepmc   +1 more source

Rapid multiplex liver gene-editing in mice using adeno-associated virus 8 or lipid nanoparticles. [PDF]

Mol Ther Adv
Wu D, Bolt I, Tolenaars DW, Duijst S, In Het Panhuis W, Hofstraat SRJ, Zwolsman R, van der Meel R, Paulusma CC, van de Graaf SFJ.   +9 more
europepmc   +1 more source

Incidental Discovery of Ochronosis During Total Knee Arthroplasty: A Case Report and Literature Review. [PDF]

Arthroplast Today
Demain A, Willemart E.
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

Alkaptonuria and Cervical Disc Herniation: Case Report. [PDF]

Int J Spine Surg
Sampaio Júnior FAU, Alves OL, Ribeiro FRB, Quidute BSQ, Ferreira RJR, Lira Filho HT, Ramiro KRB, Santos MMD, Rodrigues MS, Santos LSRD, Silva AIK, Sampaio LMQ.   +11 more
europepmc   +1 more source

Morphological characterization of a novel model of steatohepatitis in the <i>FAH</i>^<i>-/-</i> pig. [PDF]

Vet Pathol
Wilken SN, Felgendreff P, Minshew A, Ahmadzada B, Hosseiniasl SM, Kazeminia S, Ezenekwe K, Patil A, Park BU, Sultan A, Smith L, Cisneros Correa J, Hussein K, Malhi H, Moreira RK, Nyberg SL.   +15 more
europepmc   +1 more source

Variants in GSTZ1 Gene Underlying Maleylacetoacetate Isomerase Deficiency: Characterization of Two New Individuals and Literature Review. [PDF]

Genes (Basel)
Barretta F, Uomo F, Verde A, Fisco M, Gallo G, Albano L, Crisci D, Mazzaccara C, Strisciuglio P, Ruoppolo M, Fecarotta S, Parenti G, Frisso G, Rossi A.   +13 more
europepmc   +1 more source

Dietary methionine restriction started late in life promotes healthy aging in a sex-specific manner. [PDF]

Sci Adv
Hernández-Arciga U, Stamenkovic C, Yadav S, Nicoletti C, Albalawy WN, Al Hammood F, Gonzalez TF, Naikwadi MU, Graham A, Smarz C, Little GJ, Williams SG, McMahon B, Sipula IJ, Vandevender AM, Chuan B, Cooke D, Pinto AFM, Flores LC, Hartman HL, Diedrich JK, Brooke RT, Alder JK, Frahm KA, Pascal LE, Stolt E, Troensegaard H, Øvrebø B, Elshorbagy A, Molina E, Vinknes KJ, Tan RJ, Weisz OA, Bueno M, Eickelberg O, Steinhauser ML, Steinhauser ML, Finkel T, Ables GP, Ikeno Y, Olsen T, Sacco A, Jurczak MJ, Sukoff Rizzo SJ, Parkhitko AA.   +44 more
europepmc   +1 more source