Results 31 to 40 of about 60,786 (163)

Exploration into lived experiences of Multiple Sulfatase Deficiency (MSD) affected individuals and their families

Journal of Child Neurology
Despite their importance, rare diseases’ impact on patients and families is understudied. This is particularly true for ultrarare disorders, such as multiple sulfatase deficiency (MSD), a pediatric neurodegenerative disorder.
F. Gavazzi, Emily Yu, Zarrin Tashnim, Sarah Woidill, A. Sevagamoorthy, Kaley Arnold, Louisa Ammann-Schnell, Samuel Groeschel, I. Krägeloh-Mann, V. Breitling, L. Schlotawa, R. Ahrens-Nicklas, L. Adang   +12 more
semanticscholar   +2 more sources

Genetic analysis of a novel SUMF1 variation associated with a late infantile form of multiple sulfatase deficiency

Journal of Clinical Laboratory Analysis, 2022
Multiple sulfatase deficiency (MSD) (MIM#272200) is an ultra‐rare autosomal recessive lysosomal storage disorder caused by mutation of the Sulfatase Modifying Factor 1 (SUMF1) gene.
Dingyuan Ma, Yuguo Wang, Chunyu Luo
exaly   +2 more sources

Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series

Communications Medicine
Background Multiple sulfatase deficiency (MSD) is an exceptionally rare neurodegenerative disorder due to the absence or deficiency of 17 known cellular sulfatases.
Nishitha R. Pillai, Ning Liu, Xiyuan Li, Xiqi Li, Rebecca Ahrens-Nicklas, Laura Adang, Julie B. Eisengart, Grace Bronken, Ashish Gupta, Troy C. Lund, Chester B. Whitley, Sarah H. Elsea, Paul J. Orchard   +12 more
doaj   +2 more sources

Multiple sulfatase deficiency

Atlas of Inherited Metabolic Diseases, 2011
The neonatal type is the most severe form, with signs and symptoms appearing soon after birth. Affected individuals have deterioration of tissue in the nervous system (leukodystrophy), which can contribute to movement problems, seizures, developmental ...
Christian Staufner
semanticscholar   +3 more sources

A case of multiple sulfatase deficiency

Sri Lanka Journal of Child Health, 2022
No abstract availableSri Lanka Journal of Child Health, 2022: 51(3): 470 ...
Zainab Razeen, Tharindi Suriapperuma, Sanjaya Fernando, Rakhitha Munasinghe, Eresha Jasinge, Manel Panapitiya   +5 more
openaire   +2 more sources

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency

Molecular Genetics & Genomic Medicine, 2020
Background Multiple sulfatase deficiency (MSD, MIM #272200) is an ultrarare congenital disorder caused by SUMF1 mutation and often misdiagnosed due to its complex clinical presentation.
Orna Staretz‐Chacham, Lars Schlotawa, Ohad Wormser, Inbal Golan‐Tripto, Ohad S. Birk, Carlos R. Ferreira, Thomas Dierks, Karthikeyan Radhakrishnan   +7 more
doaj   +2 more sources

A systematic review and meta‐analysis of published cases reveals the natural disease history in multiple sulfatase deficiency

Journal of Inherited Metabolic Disease, 2020
Multiple Sulfatase Deficiency (MSD, MIM#272200) is an ultra‐rare lysosomal storage disorder arising from mutations in the SUMF1 gene, which encodes the formylglycine‐generating enzyme (FGE).
Lars Schlotawa, Rebecca C Ahrens-Nicklas, Laura A Adang   +2 more
exaly   +2 more sources

Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs. [PDF]

Proceedings of the National Academy of Sciences, 1992
Multiple sulfatase deficiency (MSD) is an inherited lysosomal storage disease characterized by the deficiency of at least seven sulfatases. The basic defect in MSD is thought to be in a post-translational modification common to all sulfatases. In accordance with this concept, RNAs of normal size and amount were detected in MSD fibroblasts for three ...
Rommerskirch, Winfried, Figura, Kurt von
openaire   +5 more sources

A Rare Case of Late Infantile Form of Multiple Sulfatase Deficiency

Indian Dermatology Online Journal
Megha P. Lakum, Jignaben K. Padhiyar, Nayankumar H. Patel, Kathak A. Patel   +3 more
doaj   +2 more sources

A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency

Cell, 1995
Multiple sulfatase deficiency (MSD) is a lysosomal storage disorder characterized by a decreased activity of all known sulfatases. The deficiency of sulfatases was proposed to result from the lack of a co- or posttranslational modification that is common to all sulfatases and required for their catalytic activity.
Schmidt, Bernhard, Selmer, Thorsten, Ingendoh, Arnd, Figura, Kurt von   +3 more
openaire   +5 more sources