Results 141 to 150 of about 60,786 (163)

Prospective telemedicine natural history study of multiple sulfatase deficiency

Molecular Genetics and Metabolism, 2023
L. Adang, David Isaacs, Emily Yu, L. Schlotawa, R. Ahrens-Nicklas, F. Gavazzi   +5 more
semanticscholar   +1 more source

Optimizing cross-correction to overcome limitations of gene therapy in multiple sulfatase deficiency

Molecular Genetics and Metabolism, 2023
Vi Pham, L. Tricoli, L. Schlotawa, S. Rivella, R. Ahrens-Nicklas   +4 more
semanticscholar   +1 more source

New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency

Journal of Inherited Metabolic Disease, 2023
Nicola Brunetti-Pierri
exaly  

Complementarity of biomarker screening and genetic analyses based on the case of an attenuated multiple sulfatase deficiency

Journal of Applied Genetics
Patryk Lipiński, A. Ługowska, A. Pollak, R. Płoski, A. Tylki-Szymańska   +4 more
semanticscholar   +1 more source

Multiple Sulfatase Deficiency (MSD)

2023
Neluwa-Liyanage R. Indika, Kamil T. Uçar, Eric C. Law, Udara D. Senarathne, James C. G. Doery, Karolina M. Stepien   +5 more
openaire   +1 more source

Efficacy of a scAAV9/ viral vector for the treatment of multiple sulfatase deficiency

Molecular Genetics and Metabolism, 2022
Maximiliano Presa, Rachel M. Bailey, Somdattaa Ray, L. Bailey, S. Tata, Tara Murphy, Harold F Coombs, S. Gray, C. Lutz   +8 more
semanticscholar   +1 more source

Bone marrow transplantation in multiple sulfatase deficiency: 1 year follow up

Molecular Genetics and Metabolism, 2022
Nishitha R. Pillai, R. Ahrens-Nicklas, L. Adang, S. Elsea, J. Eisengart, Ashish O. Gupta, C. Whitley, T. Lund, P. Orchard   +8 more
semanticscholar   +1 more source

Multiple Sulfatase Deficiency

2005
openaire   +2 more sources

Natural History of Multiple Sulfatase Deficiency: Implications for Clinical Trial Readiness

Neuropediatrics
I. Borgmann, L. Schlotawa, J. Gärtner, L. Adang, R. Ahrens-Nicklas, T. Arsendorf, X. Hong, A. Jamous, M. Schittkowski, S. Naxer, M. Lingen, V. Breitling, S. Berger   +12 more
semanticscholar   +1 more source

PCR101 CAREGIVER-DEFINED UNMET NEEDS TO SUPPORT PATIENT-CENTERED TRIAL DESIGN AND VALUE CONSIDERATIONS IN MULTIPLE SULFATASE DEFICIENCY (MSD)

Value in Health
D. Hosszú, Evelyn Hewitt, Judit Baijet, Rick Thompson, L. Schlotawa, Zsuzsa Réka Pozsár, Donald C. Lo, Z. Kaló, A. Zemplenyi   +8 more
semanticscholar   +1 more source