Results 21 to 30 of about 60,786 (163)

Multiple Sulfatase Deficiency from an Ophthalmologist’s Perspective—Case Report and Literature Review

Children, 2023
Multiple sulfatase deficiency (MSD) is an extremely rare autosomal recessively inherited disease with a prevalence of 1:500.000 caused by mutations on the sulfatase-modifying-Factor 1 gene (SUMF1).
Michael P. Schittkowski, Sabine Naxer, Mohamed Elabbasy, Leonie Herholz, Vivian Breitling, Alan Finglas, Jutta Gärtner, Lars Schlotawa   +7 more
doaj   +2 more sources

Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review

BMC Pediatrics, 2023
Background Multiple sulfatase deficiency (MSD) is a rare lysosomal storage disorder caused due to pathogenic variants in the SUMF1 gene. The SUMF1 gene encodes for formylglycine generating enzyme (FGE) that is involved in the catalytic activation of the ...
Jayesh Sheth, Siddharth Shah, Chaitanya Datar, Kaveri Bhatt, Pooja Raval, Aadhira Nair, Deepika Jain, Jhanvi Shah, Frenny Sheth, Harsh Sheth   +9 more
doaj   +2 more sources

Multiple Sulfatase Deficiency

Pediatric Neurology Briefs, 1988
A 9-year-old girl with a phenotype similar to a mucopolysaccharidosis (MPS) and a clinical history characteristic of late infantile metachromatic leukodystrophy (MLD) is reported from the Department of Neurology, National Defense Medical Center, Taipei ...
J Gordon Millichap
doaj   +5 more sources

Multiple sulfatase deficiency with neonatal manifestation [PDF]

Italian Journal of Pediatrics, 2014
Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue accumulation of sulfatides, sulphated glycosaminoglycans, sphingolipids and steroid sulfates.
Garavelli L, Santoro L, Iori A, Gargano G, Braibanti S, Pedori S, Melli N, Frattini D, Zampini L, Galeazzi T, Padella L, Pepe S, Wischmeijer A, Rosato S, Ivanovski I, Iughetti L, Gelmini C, Bernasconi S, Superti Furga A, BALLABIO, ANDREA, Gabrielli O.   +20 more
core   +8 more sources

Late infantile form of multiple sulfatase deficiency [PDF]

Endocrinology, Diabetes & Metabolism Case Reports, 2020
Multiple sulfatase deficiency (MSD) is a lysosomal storage disorder (LSD) that results in the accumulation of sulfate esters which go on to cause neurological deterioration and mental delay, skin changes, and dysmorphism.
Nami Mohammadian Khonsari, Benyamin Hakak-Zargar, Tessa Voth, Shahab Noorian   +3 more
doaj   +3 more sources

Unexpected Phenotype Reversion and Survival in a Zebrafish Model of Multiple Sulfatase Deficiency

Frontiers in Cell and Developmental Biology, 2022
Multiple sulfatase deficiency (MSD) is a rare recessively inherited Mendelian disorder that manifests with developmental delay, neurodegeneration, skeletal deformities, facial dysmorphism, congenital growth retardation, and other clinical signs.
Angeleen Fleming, Angeleen Fleming, Angeleen Fleming, Low Zhe Xuan, Gentzane Sanchez-Elexpuru, Gentzane Sanchez-Elexpuru, Gentzane Sanchez-Elexpuru, Sarah V. Williams, Sarah V. Williams, Sarah V. Williams, Dylan Windell, Dylan Windell, Dylan Windell, Michael H. Gelb, Zackary M. Herbst, Lars Schlotawa, David C. Rubinsztein, David C. Rubinsztein   +17 more
doaj   +2 more sources

Multiple sulfatase deficiency: A case series of four children

Annals of Indian Academy of Neurology, 2013
Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. The gene sulfatase-modifying factor 1 (SUMF1), recently identified, encodes the enzyme responsible for post-translational ...
Faruk Incecik, Mehmet N Ozbek, Serdal Gungor, Stefano Pepe, Ozlem M Herguner, Neslihan Onenli Mungan, Sabiha Gungor, Sakir Altunbasak   +7 more
doaj   +3 more sources

Bone marrow transplantation increases sulfatase activity in somatic tissues in a multiple sulfatase deficiency mouse model

Communications Medicine
Background Multiple Sulfatase Deficiency (MSD) is an ultra-rare autosomal recessive disorder characterized by deficient enzymatic activity of all known sulfatases. MSD patients frequently carry two loss of function mutations in the SUMF1 gene, encoding a
Maximiliano Presa, Vi Pham, Somdatta Ray, Pierre-Alexandre Piec, Jennifer Ryan, Timothy Billings, Harold Coombs, Lars Schlotawa, Troy Lund, Rebecca C. Ahrens-Nicklas, Cathleen Lutz   +10 more
doaj   +2 more sources

Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature

The Turkish Journal of Pediatrics, 2014
Multiple sulfatase deficiency is a rare autosomal recessive disorder in which affected individuals present a complex phenotype due to the impaired activity of all sulfatases.
Banu Güzel Nur, Ercan Mıhçı, Stefano Pepe, Gürsel Biberoğlu, Fatih Süheyl Ezgü, Andrea Ballabio, Osman Öztekin, Oğuz Dursun   +7 more
doaj   +4 more sources

Identification of Multiple Sulfatase Deficiency (MSD) in newborn screening: A case study

Molecular Genetics and Metabolism Reports
A patient with multiple sulfatase deficiency (MSD) was identified through a lysosomal storage disorder enzyme analysis panel, based on a characteristic pattern of reduced activities across multiple sulfatases.
Taraka R. Donti, James C. DiPerna, Madhuri R. Hegde   +2 more
doaj   +2 more sources