Results 131 to 140 of about 60,786 (163)

Properties of sulfatases in cultured skin fibroblasts of multiple sulfatase deficient patients

Clinical Genetics, 1981
Various sulfatase activities were assayed in cultured skin fibroblasts from patients with multiple sulfatase deficiency (MSD). MSD cell lines displayed deficiencies of arylsulfatase A and iduronate sulfatase, but activities of arylsulfatase B, N‐acetylgalactosamine 6‐sulfate sulfatase and N‐acetylglucosamine 6‐sulfate sulfatase were within normal ...
T, Yutaka, S, Okada, T, Kato, K, Inui, H, Yabuuchi   +4 more
openaire   +2 more sources

Multiple sulfatase deficiency with a novel biochemical presentation

European Journal of Pediatrics, 1988
Deficient activities of cerebroside-sulfatase, N-Acetylgalactosamine-4-sulfatase and iduronide 2-sulfatase in the lymphocytes of a patient suspected of metachromatic leukodystrophy, established the diagnosis of multiple sulfatase deficiency (MSD). Cultured skin fibroblasts (of early passage) from the patient had normal levels of activity for the three ...
openaire   +2 more sources

Multiple Sulfatase Deficiency With Early Severe Retinal Degeneration

Journal of Child Neurology, 1991
We report an unusual case of multiple sulfatase deficiency in which neurodegeneration was accompanied by early, severe visual impairment associated with prominent pigmentary retinopathy, suggesting a diagnosis of neuronal ceroid-lipofuscinosis. The levels of arylsulfatases A, B, and C, heparan N-sulfatase, N-acetylgalactosamine-6-sulfate sulfatase, and
M, Harbord, J R, Buncic, S A, Chuang, M A, Skomorowski, J T, Clarke   +4 more
openaire   +2 more sources

Efficacy of syngeneic bone marrow transplant for the treatment of multiple sulfatase deficiency

Molecular Genetics and Metabolism, 2023
Maximiliano Presa, J. Ryan, C. Lutz
semanticscholar   +1 more source

Biomarkers of disease severity in multiple sulfatase deficiency

Molecular Genetics and Metabolism, 2023
R. Ahrens-Nicklas, L. Adang, L. Schlotawa, Amber Olsen, A. Finglas, M. Pasquali, M. Gelb   +6 more
semanticscholar   +1 more source

DIAGNOSIS AND TREATMENT OF MULTIPLE SULFATASE DEFICIENCY AND OTHER SULFATASE DEFICIENCY

2004
MULTIPLE SULFATASE ...
VON FIGURA K., SCHMIDT B. DIERKS T, HEARTLEIN M. W., BALLABIO, ANDREA, AND COSMA M. P.   +4 more
openaire   +1 more source

Multiple Sulfatase Deficiency and the Nature of the Sulfatase Family

2000
eighth ...
HOPWOOD J. J, BALLABIO, ANDREA
openaire   +1 more source

Unusual early manifestation of multiple sulfatase deficiency.

Annales de radiologie, 1981
info:eu-repo/semantics ...
Perlmutter, Noemi, Libert, Jacques, Vamos, Eszter, Spehl, Marianne, Liebaers, Ingeborg   +4 more
openaire   +3 more sources

Tazarotene and Bexarotene Show Efficacy as In Vitro Therapeutic Agents in Multiple Sulfatase Deficiency

Neuropediatrics, 2023
L. Schlotawa, K. Matysiak, M. Kettwig, R. Ahrens-Nicklas, M. Baud, T. Berulava, N. Brunetti-Pierri, A. Gagné, Z. Herbst, J. Maguire, J. Monfregola, T. Pena, K. Radhakrishnan, S. Schröder, E. Waxman, A. Ballabio, T. Dierks, A. Fischer, D. French, M. Gelb, J. Gärtner   +20 more
semanticscholar   +1 more source

Development of disease-specific scale for multiple sulfatase deficiency

Molecular Genetics and Metabolism, 2023
L. Adang, F. Gavazzi, Emily Yu, D. Isaacs, L. Schlotawa, R. Ahrens-Nicklas   +5 more
semanticscholar   +1 more source