Results 131 to 140 of about 955 (143)

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

2021
Multiple sulfatase deficiency (MSD) is a very rare lysosomal storage disease(LSD) caused by mutations in the SUMF1 gene. So far, about 143 patients with MSD have been reported in previous studies, although this figure is likely an underestimation due to under-reporting and under-recognition.
Khanzadeh, Shokoufeh, babaei, meisam, Imanpour, Parvin, Sadeghvand, Shahram   +3 more
openaire   +1 more source

Prenatal diagnosis of a homozygous variant of <i>SUMF1</i> in a fetus with hydrops fetalis using chorionic villus sampling

Vietnam Journal of Biotechnology
Nonimmune hydrops fetalis (NIHF) is a severe prenatal condition with a broad etiological spectrum, including chromosomal abnormalities, structural malformations, congenital infections, and inherited metabolic disorders. Early identification of the underlying cause is essential for accurate prognosis, clinical decision-making, and genetic counseling ...
Thi Sim Nguyen, Duc Anh Nguyen, Trong Hung Mai, Khanh Dung Ho, Thi Bich Thuy Vuong, Thi Lan Anh Luong, Thi Minh Ngoc Nguyen, Duc Phan Tran, Thi Kiem Tran, Ngoc Dung Nguyen   +9 more
openaire   +1 more source

Assessing the Outcome of Mutations in SUMF1 Protein Causing MSD - A Computational Approach

2022
Madhana Priya Nanda, Nithiya Shree, Magesh Ramasamy   +2 more
openaire   +1 more source

Development of scAAV9/SUMF1 gene therapy for multiple sulfatase deficiency

Molecular Genetics and Metabolism, 2019
Rachel M. Bailey, Maximiliano Presa, Catherine Lutz, Steven J. Gray   +3 more
openaire   +1 more source

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

Molecular Genetics and Metabolism, 2021
Rachel M. Bailey, Maximiliano Presa, Somdatta Ray, Lauren Bailey, Harold Coombs, Randy Walls, Cathleen Lutz, Steven J. Gray   +7 more
openaire   +1 more source

SUMF1 enhances sulfatase activities in vivo in five sulfatase deficiencies

Biochemical Journal, 2007
Alessandro Fraldi, Alessia Lombardi, Ilaria Visigalli   +2 more
exaly  

Cell trafficking of SUMF1 described by functional proteomics experiments

2008
Cozzolino M., MONTI, MARIA, FRALDI, ALESSANDRO, Zito E., COSMA, MARIA PIA, PUCCI, PIETRO   +5 more
openaire   +1 more source

Intra cerebral administration of AAVrh-10 carrying human SGSH and SUMF1 cDNAs in children with MPSIIIA disease: Long term follow-up of a phase I–II trial

European Journal of Paediatric Neurology, 2017
Kumaran Deiva, Helene Maurey, Caroline Sevin, Carine Cormary, Carole Leroy, Soraya Bekkali, Michel Zerah, Marc Tardieu   +7 more
openaire   +1 more source

Molecular analysis ofSUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency

Human Mutation, 2008
Lars Schlotawa, Robert Steinfeld, Thomas Dierks   +2 more
exaly  

Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16

Journal of Medical Genetics, 2007
exaly