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Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization.
Ruijmbeek CW, Housley F, Idrees H, Housley MP, Pestel J, Keller L, Lai JK, der Linde HCV, Willemsen R, Piesker J, Al-Hassnan ZN, Almesned A, Dalinghaus M, den Bersselaar LMV, van Slegtenhorst MA, Tessadori F, Bakkers J, van Ham TJ, Stainier DY, Verhagen JM, Reischauer S. Ruijmbeek CW, et al. Among authors: al hassnan zn. JCI Insight. 2023 Sep 8;8(17):e168247. doi: 10.1172/jci.insight.168247. JCI Insight. 2023. PMID: 37561591 Free PMC article.
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry.
Kishnani PS, Kronn D, Suwazono S, Broomfield A, Llerena J, Al-Hassnan ZN, Batista JL, Wilson KM, Periquet M, Daba N, Hahn A, Chien YH. Kishnani PS, et al. Among authors: al hassnan zn. Orphanet J Rare Dis. 2023 Dec 6;18(1):381. doi: 10.1186/s13023-023-02981-2. Orphanet J Rare Dis. 2023. PMID: 38057861 Free PMC article.
Identification of Gaucher disease mutations found in Saudi Arabia.
Kaya N, Al-Zahrani F, Al-Odaib A, Rahbeeni Z, Al-Hassnan Z, Al-Sharif F, Ozand P, Al-Sayed M. Kaya N, et al. Blood Cells Mol Dis. 2008 Sep-Oct;41(2):200-1. doi: 10.1016/j.bcmd.2008.05.002. Epub 2008 Jun 30. Blood Cells Mol Dis. 2008. PMID: 18586535 No abstract available.
105 results