Michael Beck - Publications, H-index & Citations

Michael Beck

Johannes Gutenberg University of Mainz

72H指数

490论文数

1.9W被引数

收录论文 100

发表时间

Quantitative longitudinal natural history of 8 gangliosidoses-conceptual framework and baseline data of the German 8-in-1 disease registry. A cross-sectional analysis

GENETICS IN MEDICINE

IF6.2

2022-12-01

OAAI

Ries, Markus; Mendoza, Grecia; Arash-Kaps, Laila; Amraoui, Yasmina; Quack, Folker; Hardt, Brigitte; Diederich, Stefan; Beck, Michael; Mengel, Eugen

Twenty years of the Fabry Outcome Survey (FOS): insights, achievements, and lessons learned from a global patient registry

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2022-06-20

OAAI

Beck, Michael; Ramaswami, Uma; Hernberg-Stahl, Elizabeth; Hughes, Derralynn A.; Kampmann, Christoph; Mehta, Atul B.; Nicholls, Kathleen; Niu, Dau-Ming; Pintos-Morell, Guillem; Reisin, Ricardo; West, Michael L.; Schenk, Jorn; Anagnostopoulou, Christina; Botha, Jaco; Giugliani, Roberto

Standardising clinical outcomes measures for adult clinical trials in Fabry disease: A global Delphi consensus

MOLECULAR GENETICS AND METABOLISM

IF3.5

2021-04-01

OAAI

Moreno-Martinez, D.; Aguiar, P.; Auray-Blais, C.; Beck, M.; Bichet, D. G.; Burlina, A.; Cole, D.; Elliott, P.; Feldt-Rasmussen, U.; Feriozzi, S.; Fletcher, J.; Giugliani, R.; Jovanovic, A.; Kampmann, C.; Langeveld, M.; Lidove, O.; Linhart, A.; Mauer, M.; Moon, J. C.; Muir, A.; Nowak, A.; Oliveira, J. P.; Ortiz, A.; Pintos-Morell, G.; Politei, J.; Rozenfeld, P.; Schiffmann, R.; Svarstad, E.; Talbot, A. S.; Thomas, M.; Tondel, C.; Warnock, D.; West, M. L.; Hughes, D. A.

Fabry Outcome Survey (FOS): Highlights from a 20-year patient registry of Fabry disease

MOLECULAR GENETICS AND METABOLISM

IF3.5

2021-02-01

PREAI

Beck, Michael; Ramaswami, Uma; Hughes, Derralynn; Kampmann, Christoph; Nicholls, Kathy; Niu, Dau-Ming; Reisin, Ricardo; Pintos-Morell, Guillem; West, Michael; Schenk, Joern; Anagnostopoulou, Christina; Botha, Jaco; Jazukeviciene, Dalia; Giugliani, Roberto

Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2018-01-26

OAAI

Komlosi, Katalin; Diederich, Stefan; Fend-Guella, Desiree Lucia; Bartsch, Oliver; Winter, Jennifer; Zechner, Ulrich; Beck, Michael; Meyer, Peter; Schweiger, Susann

Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2017-10-03

OAAI

Muenzer, Joseph; Giugliani, Roberto; Scarpa, Maurizio; Tylki-Szymanska, Anna; Jego, Virginie; Beck, Michael

Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2017-05-02

OAAI

Muenzer, Joseph; Jones, Simon A.; Tylki-Szymanska, Anna; Harmatz, Paul; Mendelsohn, Nancy J.; Guffon, Nathalie; Giugliani, Roberto; Burton, Barbara K.; Scarpa, Maurizio; Beck, Michael; Jangelind, Yvonne; Hernberg-Stahl, Elizabeth; Larsen, Maria Paabol; Pulles, Tom; Whiteman, David A. H.

Clinical utility gene card for: Fabry disease - update 2016

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2017-03-22

OAAI

Gal, Andreas; Beck, Michael; Hoeppner, Wolfgang; Germain, Dominique P.

Farber disease (acid ceramidase deficiency) epidemiology: literature review and patient cohort data indicate moderate and attenuated phenotypes are likely underrepresented in the medical literature and are underdiagnosed

MOLECULAR GENETICS AND METABOLISM

IF3.5

2017-01-01

PREAI

Solyom, Alexander; Nwosu, Ekene O.; Mitchell, John; Beck, Michael; Huegle, Boris; Tetzl, Dustin; Schuchman, Edward H.

Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatment (vol 10, 125, 2015)

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2016-07-12

OAAI

Kampmann, Christoph; Perrin, Amandine; Beck, Michael

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

JOURNAL OF MEDICAL GENETICS

IF3.7

2016-02-23

126

OAAI

Montano, Adriana M.; Lock-Hock, Ngu; Steiner, Robert D.; Graham, Brett H.; Szlago, Marina; Greenstein, Robert; Pineda, Mercedes; Gonzalez-Meneses, Antonio; Coker, Mahmut; Bartholomew, Dennis; Sands, Mark S.; Wang, Raymond; Giugliani, Roberto; Macaya, Alfons; Pastores, Gregory; Ketko, Anastasia K.; Ezgu, Fatih; Tanaka, Akemi; Arash, Laila; Beck, Michael; Falk, Rena E.; Bhattacharya, Kaustuv; Franco, Jose; White, Klane K.; Mitchell, Grant A.; Cimbalistiene, Loreta; Holtz, Max; Sly, William S.

Clinical outcomes in idursulfase-treated patients with MPS II: 3-year data from the Hunter Outcome Survey (HOS)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2016-02-01

PREAI

Giugliani, Roberto; Muenzer, Joseph; Scarpa, Maurizio; Tylki-Szymafiska, Anna; Jego, Virginie; Beck, Michael

Insights into the management of patients with MPS II: Key findings following 10 years of the Hunter Outcome Survey (HOS)

MOLECULAR GENETICS AND METABOLISM

IF3.5

2016-02-01

PREAI

Whiteman, David; Giugliani, Roberto; Scarpa, Maurizio; Tylki-Szymanska, Anna; Beck, Michael; Larsen, Maria Paabol; Morin, Isabelle; Muenzer, Joseph

Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events

MOLECULAR GENETICS AND METABOLISM

IF3.5

2016-02-01

OAAI

Beck, Michael; Hughes, Derralynn; Kampmann, Christoph; Bizjajeva, Svetlana; Pintos-Morell, Guillem; Ramaswami, Uma; West, Michael; Giugliani, Roberto

Cardio-renal outcomes with long-term agalsidase alfa enzyme replacement therapy: A 10-year Fabry Outcome Survey analysis

MOLECULAR GENETICS AND METABOLISM

IF3.5

2016-02-01

PREAI

Ramaswami, Uma; Beck, Michael; Hughes, Derralynn; Kampmann, Christoph; Bizjajeva, Svetlana; Pintos-Morell, Guillem; West, Michael; Niu, Dau-Ming; Nicholls, Kathy; Giugliani, Roberto

Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatment

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2015-09-29

100

OAAI

Kampmann, Christoph; Perrin, Amandine; Beck, Michael

Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation Α-甘露糖苷病: 表型，基因型和突变型MAN2B1亚细胞定位之间的相关性

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2015-06-06

OAAI

Borgwardt, Line; Stensland, Hilde Monica Frostad Riise; Olsen, Klaus Juul; Wibrand, Flemming; Klenow, Helle Bagterp; Beck, Michael; Amraoui, Yasmina; Arash, Laila; Fogh, Jens; Nilssen, Oivind; Dali, Christine I.; Lund, Allan Meldgaard

Thromboembolic events in Fabry disease and the impact of factor V Leiden

NEUROLOGY

IF8.5

2015-03-10

PREAI

Lenders, Malte; Karabul, Nesrin; Duning, Thomas; Schmitz, Boris; Schelleckes, Michael; Mesters, Rolf; Hense, Hans-Werner; Beck, Michael; Brand, Stefan-Martin; Brand, Eva

Thromboembolic events in Fabry disease and the impact of factor V Leiden

MOLECULAR GENETICS AND METABOLISM

IF3.5

2015-02-01

PREAI

Lenders, Malte; Karabul, Nesrin; Duning, Thomas; Schmitz, Boris; Schelleckes, Michael; Mesters, Rolf; Hense, Hans-Werner; Beck, Michael; Brand, Stefan-Martin; Brand, Eva

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis

MOLECULAR GENETICS AND METABOLISM

IF3.5

2015-02-01

OAAI

Beck, Michael; Hughes, Derralynn; Kampmann, Christoph; Larroque, Sylvain; Mehta, Atul; Pintos-Morell, Guillem; Ramaswami, Uma; West, Michael; Wijatyk, Anna; Giugliani, Roberto

研究方向