Results 151 to 160 of about 60,786 (163)

Plasmatic and urinary glycosaminoglycan profile in a patient affected by multiple sulfatase deficiency

Clinical Chemistry and Laboratory Medicine, 2015
Nicola Volpi, Giovanni V Coppa, Lucia Zampini   +2 more
exaly  

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann–Pick C1 disease — Lysosomal storage disorders caused by defects of non-lysosomal proteins

Biochimica Et Biophysica Acta - Molecular Cell Research, 2009
Thomas Dierks, Lars Schlotawa, Karthikeyan Radhakrishnan   +2 more
exaly  

[Multiple sulfatase deficiency].

Ryoikibetsu shokogun shirizu, 1998
Y, Eto, T, Ito, H, Kobayashi
openaire   +1 more source

A Dutch patient with multiple sulfatase deficiency

Clinical Neurology and Neurosurgery, 1984
R.A. Wevers, F.J.M. Gabreëls, K.J.B. Lamers, F.A.H. Nabber, J.Schuurman Stekhoven, F.C.M. de Witter   +5 more
openaire   +1 more source

Multiple Sulfatase Deficiency

2012
openaire   +1 more source

A Drosophila model of multiple sulfatase deficiency

Molecular Genetics and Metabolism, 2018
Scott B. Selleck, Claire Reynolds-Peterson, Brandon Yonel, Claire Trasorras, Jie Xu, Hiroshi Nakato, Hidenao Toyoda   +6 more
openaire   +1 more source

Clinical and mutational characterization of three patients with multiple sulfatase deficiency: Report of a new splicing mutation

Molecular Genetics and Metabolism, 2005
Mariana Blanco, Lluïsa Vilageliu, Daniel Grinberg   +2 more
exaly  

Metachromatic leukodystrophy and multiple sulfatase deficiency

2015
openaire   +1 more source

Multiple Sulfatase Deficiency: Clinical, Neuropathological, Ultrastructural and Biochemical Studies

Journal of Neuropathology and Experimental Neurology, 1990
M Anthony Verity, Michel Philippart, Arvan L Fluharty   +2 more
exaly  

[Multiple sulfatase deficiency].

Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 1990
openaire   +1 more source