Natural disease course of chronic visceral acid sphingomyelinase deficiency in adults: A first step toward treatment criteria.

Autor: Eskes ECB; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands., van Dussen L; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands., Brands MMMG; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.; Department of Pediatric Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Amsterdam, The Netherlands., Vaz FM; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Aerts JMFG; Department of Medical Biochemistry, Leiden Institute of Chemistry, University of Leiden, Leiden, The Netherlands., van Kuilenburg ABP; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.; Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands., Sjouke B; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Internal Medicine, Radboud UMC, Nijmegen, Netherlands., Hollak CEM; Department of Endocrinology and Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam, The Netherlands.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Aug 23. Date of Electronic Publication: 2024 Aug 23.

Taliglucerase alfa leads to favorable bone marrow responses in patients with type I Gaucher disease.

Autor: Mehta, Atul

Publikováno v: Current Medical Literature: Lysosomal Storage Disease. 2013, Vol. 11 Issue 3, p83-84. 2p.

Progressive Changes in Cerebral Apparent Diffusion Values in Fabry Disease: A 5-Year Follow-up MRI Study.

Autor: Baas KPA; From the Department of Radiology and Nuclear Medicine (K.P.A.B., A.J.N.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., Everard AJ; Faculty of Science (A.J.E.), Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Körver S; Department of Endocrinology and Metabolism (S.K., L.v.D., C.E.M.H.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., van Dussen L; Department of Endocrinology and Metabolism (S.K., L.v.D., C.E.M.H.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., Coolen BF; Department of Biomedical Engineering and Physics (B.F.C., G.J.S.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences (B.F.C., G.J.S.), University of Amsterdam, Amsterdam, the Netherlands., Strijkers GJ; Department of Biomedical Engineering and Physics (B.F.C., G.J.S.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.; Amsterdam Cardiovascular Sciences (B.F.C., G.J.S.), University of Amsterdam, Amsterdam, the Netherlands., Hollak CEM; Department of Endocrinology and Metabolism (S.K., L.v.D., C.E.M.H.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands., Nederveen AJ; From the Department of Radiology and Nuclear Medicine (K.P.A.B., A.J.N.), Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands a.j.nederveen@amsterdamumc.nl.

Publikováno v: AJNR. American journal of neuroradiology [AJNR Am J Neuroradiol] 2023 Oct; Vol. 44 (10), pp. 1157-1164.

ECG Changes during Adult Life in Fabry Disease: Results from a Large Longitudinal Cohort Study.

Autor: El Sayed M; Department of Internal Medicine, Division of Endocrinology and Metabolism, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology and Metabolism, Inborn Errors of Metabolism, 1105 AZ Amsterdam, The Netherlands., Postema PG; Department of Cardiology, Heart Center, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, 1105 AZ Amsterdam, The Netherlands., Datema M; Department of Internal Medicine, Division of Endocrinology and Metabolism, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology and Metabolism, Inborn Errors of Metabolism, 1105 AZ Amsterdam, The Netherlands., van Dussen L; Department of Internal Medicine, Division of Endocrinology and Metabolism, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology and Metabolism, Inborn Errors of Metabolism, 1105 AZ Amsterdam, The Netherlands., Kors JA; Department of Medical Informatics, Erasmus MC, University Medical Center Rotterdam, 3015 GD Rotterdam, The Netherlands., Ter Haar CC; Department of Cardiology, Heart Center, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, 1105 AZ Amsterdam, The Netherlands., Bleijendaal H; Department of Cardiology, Heart Center, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Heart Failure & Arrhythmias, 1105 AZ Amsterdam, The Netherlands.; Department of Biostatistics & Bioinformatics, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands., Galenkamp H; Department of Public and Occupational Health, Amsterdam UMC, Location AMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Amsterdam Public Health, Health Behaviors and Chronic Diseases, 1105 AZ Amsterdam, The Netherlands., van den Born BH; Amsterdam Public Health, Health Behaviors and Chronic Diseases, 1105 AZ Amsterdam, The Netherlands.; Department of Vascular Medicine, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Amsterdam Cardiovascular Sciences, Atherosclerosis & Ischemic Syndromes, 1105 AZ Amsterdam, The Netherlands., Hollak CEM; Department of Internal Medicine, Division of Endocrinology and Metabolism, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology and Metabolism, Inborn Errors of Metabolism, 1105 AZ Amsterdam, The Netherlands., Langeveld M; Department of Internal Medicine, Division of Endocrinology and Metabolism, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.; Amsterdam Gastroenterology Endocrinology and Metabolism, Inborn Errors of Metabolism, 1105 AZ Amsterdam, The Netherlands.

Publikováno v: Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2023 Jan 18; Vol. 13 (3). Date of Electronic Publication: 2023 Jan 18.

Influence of sex and phenotype on cardiac outcomes in patients with Fabry disease.

Autor: El Sayed M; Endocrinology and Metabolism, Amsterdam UMC Locatie AMC, Amsterdam, The Netherlands., Hirsch A; Cardiology, Erasmus Medical Center, Rotterdam, Zuid-Holland, The Netherlands.; Radiology and Nuclear Medicine, Erasmus Medical Center, Rotterdam, Zuid-Holland, The Netherlands., Boekholdt M; Cardiology, Amsterdam UMC Locatie AMC, Amsterdam, Noord Holland, The Netherlands., van Dussen L; Endocrinology and Metabolism, Amsterdam UMC Locatie AMC, Amsterdam, The Netherlands., Datema M; Endocrinology and Metabolism, Amsterdam UMC Locatie AMC, Amsterdam, The Netherlands., Hollak C; Endocrinology and Metabolism, Amsterdam UMC Locatie AMC, Amsterdam, The Netherlands., Langeveld M; Endocrinology and Metabolism, Amsterdam UMC Locatie AMC, Amsterdam, The Netherlands m.langeveld@amsterdamumc.nl.

Publikováno v: Heart (British Cardiac Society) [Heart] 2021 Dec; Vol. 107 (23), pp. 1889-1897. Date of Electronic Publication: 2021 Feb 10.