Results 51 to 60 of about 459 (116)

Monogenic Syndromes as a Cause of Adverse Drug Reactions in the Russian Population. [PDF]

Int J Mol Sci
Buianova AA, Cheranev VV, Shmitko AO, Vasiliadis IA, Samitova AF, Suchalko ON, Repinskaia ZA, Kuznetsov MI, Belova VA, Korostin DO.   +9 more
europepmc   +1 more source

From Mutation to Manifestation: Evaluation of a <i>PKLR</i> Gene Truncation Caused by Exon Skipping in a Schnauzer Terrier. [PDF]

Animals (Basel)
Ma TY, Kuo CJ, Liu PC.
europepmc   +1 more source

Pyruvate kinase deficiency modifies sickle hemoglobin carrier and sickle cell disease phenotypes in mice. [PDF]

JCI Insight
Wang X, Smith M, Kamimura S, Li Q, Shah N, Quezado M, Almeida LE, Vogel S, Tegegn MB, Sun KY, Villasmil R, Liu C, Eaton WA, Thein SL, Quezado ZM.   +14 more
europepmc   +1 more source

Incidental Identification of Potentially Affected Individuals Through Expanded Carrier Screening During Preconception or Early Pregnancy. [PDF]

Prenat Diagn
Lü Y, Chang J, Jiang Y, Zhou X, Hao N, Yu Y, Li M, Yin K, Yang X, Qi Q.   +9 more
europepmc   +1 more source

Case report: Modified transplantation for pediatric patients with pyruvate kinase deficiency. [PDF]

Front Immunol
Pang Y, Qi X, Qin J, Zhai X, Wang R, Cao J, Zhang N, Liu J, Li J, Wu W, Wei S, Zhang J, Zhang S, Zhang Y, Yue Y.   +14 more
europepmc   +1 more source

Adult genomic medicine: lessons from a multisite study of 2700 patients. [PDF]

Genome Med
Bakur K, Hamid H, Alhaddad B, Alfadhel M, Alhashem A, Eyaid W, Alanzi T, Al Mutairi F, Alswaid A, Ababneh F, Al Ghamdi M, Mohamed S, Alaskar A, Alqahtani F, Alzaidan H, Al-Owain M, Faqeih EA, Mushiba AM, Alanazi R, Almoallem B, Alsaleh NS, Al Tala S, Alshammari M, Turkistani A, Gosadi G, Hakami F, Alobaid F, Al Rukban H, Alfaidi A, Ba-Abbad R, Almuqbil MA, Al-Boukai A, Alamri AS, Alshehri A, Sulaiman RA, Almontasheri A, Danish E, AlSagheir A, Aljeaid D, Al-Awam BS, Shawli A, Al-Otaibi M, Majdali WS, Azher ZA, Almannai M, Baalawi W, Saudi Adult Genomics Group, AlAbdi L, Benoukraf T, Alkuraya FS.   +49 more
europepmc   +1 more source

Clinical and Demographic Characteristics of Pyruvate Kinase Deficiency Patients: A Comprehensive Case Series Analysis. [PDF]

Cureus
Nasiri A, Haroon A, Alzahrani H.
europepmc   +1 more source

Discovery and validation of small molecule stabilizers of mutant triose phosphate isomerase (TPI) as potential lead candidates for TPI deficiency. [PDF]

SLAS Discov
Vollmer LL, Roberts P, Eicher SL, Wołosowicz M, Patel P, Figura JR, Donahue ER, Berkowitz J, Gavlock D, Wipf P, LaPorte M, Mullett SJ, Shillington A, Homanics GE, Palladino MJ, Vogt A.   +15 more
europepmc   +1 more source

Designing a single-arm phase 2 clinical trial of mitapivat for adult patients with erythrocyte membranopathies (SATISFY): a framework for interventional trials in rare anaemias - pilot study protocol. [PDF]

BMJ Open
Glenthøj A, van Beers EJ, van Wijk R, Rab MAE, Groot E, Vejlstrup N, Toft N, Bendtsen SK, Petersen J, Helby J, Chermat F, Fenaux P, Kuo KHM.   +12 more
europepmc   +1 more source

Monogenic Disorders of ROS Production and the Primary Anti-Oxidative Defense. [PDF]

Biomolecules
Grüning NM, Ralser M.
europepmc   +1 more source