Results 131 to 140 of about 275,755 (180)

Lucerastat, an oral therapy for Fabry disease: results from a pivotal randomized phase 3 study and its open-label extension. [PDF]

Nat Commun
Nordbeck P, Goker-Alpan O, Bernat JA, Germain DP, Giraldo P, Jovanovic A, Kimonis V, Nicholls K, Rockman-Greenberg C, Schiffmann R, Thomas M, Tylki-Szymanska A, Wallace E, Welford RWD, West ML, Clozel M, Frey A, Trokan L, Mueller MS, Vogler M, Wanner C, Hughes D.   +21 more
europepmc   +1 more source

An unusual trilogy: a case of comorbid aHUS, Fabry disease, and hypertrophic cardiomyopathy. [PDF]

Front Med (Lausanne)
Li Q, Yu L, Wang J, Yang Z, Duan Y, Zhen J, Sun S.   +6 more
europepmc   +1 more source

Best Practices for the Nutritional Management of Infantile-Onset Lysosomal Acid Lipase Deficiency: A Case-Based Discussion. [PDF]

Nutrients
White FJ, de Las Heras J, Rodríguez-Borjabad C, Jones SA, Kim AY, Moore J, Abel F, Frank L, Jones R, Vijay S.   +9 more
europepmc   +1 more source

Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study. [PDF]

Diagnostics (Basel)
Yazıcı H, Kara E, Bulut FD, Çelik MY, Köşeci B, Erdem F, Burgaç E, Yanbolu AY, Kaplan İ, Durmaz A, Aykut A, Canda E, Kor D, Uçar SK, Sözmen E, Çoker M, Mungan HNÖ.   +16 more
europepmc   +1 more source

Short-Term Intensive Avalglucosidase Alfa Regimen in Late-Diagnosed Infantile Pompe Disease: A Case Report. [PDF]

Reports (MDPI)
Gragnaniello V, Pozza A, Cazzorla C, Gueraldi D, Di Salvo G, Burlina AB.   +5 more
europepmc   +1 more source

Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype. [PDF]

Am J Case Rep
Cullufi P, Velmishi V, Dervishi E, Tomori S, Hoxha G, Jazexhiu-Postoli E, Basha E, Tako AK, Tabaku M.   +8 more
europepmc   +1 more source

Miglustat: a first-in-class enzyme stabilizer for cipaglucosidase alfa for the treatment of late-onset Pompe disease. [PDF]

Ther Adv Rare Dis
Hopkin RJ, Byrne BJ, Dimachkie MM, Kishnani PS, Mozaffar T, Roberts M, Schoser B, van der Beek NAME, van der Ploeg AT, Wenninger S, Brudvig J, Fox B, Holdbrook F, Jain V, Johnson F, Zhang J, Parenti G.   +16 more
europepmc   +1 more source

Virtual-reality induced nostalgia: Duration and psychological benefits. [PDF]

Behav Res Methods
Yılmaz-Özdemir İ, Wildschut T, Sedikides C, Graf EW.   +3 more
europepmc   +1 more source

Therapeutic landscape of Fabry disease: advances and challenges from classical strategies to emerging therapies. [PDF]

Front Med (Lausanne)
Zhang M, Wang C.
europepmc   +1 more source