Results 1 to 10 of about 60,786 (163)

Molecular and functional analysis ofSUMF1 mutations in multiple sulfatase deficiency

Human Mutation, 2004
Multiple sulfatase deficiency (MSD) is a rare disorder characterized by impaired activity of all known sulfatases. The gene mutated in this disease is SUMF1, which encodes a protein involved in a post-translational modification at the catalytic site of ...
Maria Pia Cosma, Stefano Pepe, Giancarlo Parenti   +2 more
exaly   +3 more sources

Natural disease history and characterization of SUMF1 molecular defects in multiple sulfatase deficiency: a case report

, 2021
Shokoufeh Khanzadeh, Meisam Babaei, Parvin Imanpour, Shahram Sadeghvand   +3 more
semanticscholar   +1 more source

Multiple Sulfatase Deficiency: A Case Series With a Novel Mutation

Journal of Child Neurology, 2018
Leen O Hijazi, Majid Alfadhel
exaly  

The impact of multiple sulfatase deficiency on children and families: A caregiver's perspective

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

Multiple sulfatase deficiency is due to hypomorphic mutations of theSUMF1 gene

Human Mutation, 2007
Valentina Bouché, Alessia Lombardi, Carmine Settembre   +2 more
exaly  

Patient-derived NGN2-induced neurons recapitulate biochemical phenotypes of multiple sulfatase deficiency

Molecular Genetics and Metabolism
Margaret M. Cassidy, Vi Pham, Livia Sertori Finoti, Kaitlyn King, Parith Wongkittichote, X. Hong, R. Ahrens-Nicklas   +6 more
semanticscholar   +1 more source

Single vs. dual transgene gene therapy for multiple sulfatase deficiency

Molecular Genetics and Metabolism
Vi Pham, L. Tricoli, Parith Wongkittichote, X. Hong, L. Schlotawa, Stefano Rivella, R. Ahrens-Nicklas   +6 more
semanticscholar   +1 more source

Entering the playing field: Therapy for multiple sulfatase deficiency.

Molecular Therapy
Patricia Dickson
semanticscholar   +1 more source

Preclinical studies to support the intrathecal delivery of scAAV9/SUMF1 as a gene replacement therapy for multiple sulfatase deficiency

, 2021
Rachel M. Bailey, Maximiliano Presa, Somdattaa Ray, L. Bailey, Harold F Coombs, R. Walls, C. Lutz, S. Gray   +7 more
semanticscholar   +1 more source

Generation and characterization of multiple sulfatase deficiency iPSC-line and neurogenin-2-induced neurons

Molecular Genetics and Metabolism
Livia Sertori Finoti, Vi Pham, Margaret M. Cassidy, Alyssa Gagne, Elisa A. Waxman, R. Ahrens-Nicklas   +5 more
semanticscholar   +1 more source