Results 111 to 120 of about 60,786 (163)

A Patient With Atypical Multiple Sulfatase Deficiency

Pediatric Neurology, 2016
Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder characterized by the absence of several sulfatases and resulting from mutations in the gene encoding the human C (alpha)-formylglycine-generating enzyme. There have been a variety of biochemical and clinical presentations reported in this disorder.We present a 4-year-old
Agustin Legido, David A Wenger, Divya S Khurana   +2 more
exaly   +3 more sources

Multiple Sulfatase Deficiency

, 2009
von Figura K, Dierks T, Schmidt B. Multiple Sulfatase Deficiency. In: Lang F, ed. Encyclopedia of Molecular Mechanisms of Disease.
von Figura, Kurt, Dierks, Thomas, Schmidt, Bernhard, Lang, F.   +3 more
core   +4 more sources

Screening of approved drugs identifies 3 generation retinoids as therapeutic agents in multiple sulfatase deficiency

Molecular Genetics and Metabolism, 2023
Schlotawa L, Kettwig M, Ahrens-Nicklas R, et al. Screening of approved drugs identifies 3rd generation retinoids as in vitro therapeutic agents in multiple sulfatase deficiency.
L. Schlotawa, M. Kettwig, R. Ahrens-Nicklas, M. Baud, N. Brunetti‐Pierri, Alyssa L. Gagne, Sophie Schroeder, Jilenia Monfregula, Tonatiuh Pena, Karthikeyan Radhakrishnan, E. Waxman, André Fischer, D. French, M. Gelb, Jutta Gaertner   +14 more
semanticscholar   +2 more sources

Mucolipidoses, Multiple Sulfatase Deficiency, and Cathepsin K and C Deficiency [PDF]

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, 2022
Mucolipidosis type II/III (ML II/III) and multiple sulfatase deficiency (MSD) share clinical features with the mucopolysaccharidoses. Both ML II/III and MSD result from enzymatic defects that affect the post-translational modification of lysosomal ...
H. Huidekoper, E. Oussoren
semanticscholar   +2 more sources

Pitfalls in the Diagnosis of Multiple Sulfatase Deficiency

Neuropediatrics, 2001
Multiple sulfatase deficiency (MSD, OMIM 272200) is an autosomal recessive leukodystrophy associated with the deficiency of several, in total seven, sulfatases. The disorder is clinically and biochemically variable. The clinical picture combines features of mucopolysaccharidosis and metachromatic leukodystrophy (MLD, OMIM 250100) in a variable spectrum.
Verheijen - Mancini, Grazia, Diggelen, Otto, Huijmans, Jan, Stroink, H (Hans), Coo, IFM   +4 more
openaire   +2 more sources

Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency

Proceedings of the National Academy of Sciences of the United States of America, 2007
Sulfatases are involved in several biological functions such as degradation of macromolecules in the lysosomes. In patients with multiple sulfatase deficiency, mutations in the SUMF1 gene cause a reduction of sulfatase activities because of a ...
Carmine Settembre, Gilda Cobellis, Edoardo Nusco   +2 more
exaly   +3 more sources

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

Human Mutation, 2008
Schlotawa L, Steinfeld R, von Figura K, Dierks T, Gärtner J. Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
Lars Schlotawa, Robert Steinfeld, Thomas Dierks   +2 more
exaly   +2 more sources

Diagnosis and treatment of multiple sulfatase deficiency and other sulfatase deficiencies

, 2004
von Figura K, Schmidt B, Dierks T, Heartlein M, Ballabio A, Cosma MP.
von Figura, Kurt, Schmidt, Bernhard, Dierks, Thomas, Heartlein, Michael, Ballabio, Andrea, Cosma, Maria Pia   +5 more
openaire   +2 more sources

Myeloid Sulf Deletion and Immune Dysfunction in Multiple Sulfatase Deficiency

The FASEB Journal, 2022
Multiple sulfatase deficiency (MSD) is a rare autosomal recessive disease due to pathogenic mutations in the sulfatase‐modifying factor 1 (SUMF1) gene.
Anna Whitehead, Xinping Yue
semanticscholar   +1 more source

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement

Molecular Genetics and Metabolism, 2018
Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results in defective sulfatase post-translational modification. Sulfatases in the body are activated by a unique protein, formylglycine-generating enzyme (FGE) that is ...
Rebecca C Ahrens-Nicklas, Lars Schlotawa, Andrea Ballabio   +2 more
exaly   +2 more sources