Results 81 to 90 of about 5,662 (212)

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease

, 2020
Laura Adang, Lars Schlotawa, Samuel Groeschel, Christiane Kehrer, K. Harzer, Orna Staretz‐Chacham, Thiago Oliveira Silva, Ida Vanessa Döederlein Schwartz, Jutta Gärtner, Mauricio De Castro, Carrie Costin, Esperanza Font–Montgomery, Thomas Dierks, Karthikeyan Radhakrishnan, Rebecca C. Ahrens‐Nicklas   +14 more
openalex   +1 more source

Various Sulfatase Activities in Leukocytes and Cultured Skin Fibroblasts from Heterozygotes for the Multiple Sulfatase Deficiency (Mukosulfatidosis) [PDF]

, 1983
Yoshikatsu Eto, Takahiro Tahara, T. Tokoro, Kihei Maekawa   +3 more
openalex   +1 more source

The Cancer/Testis Antigen CT45A1 Promotes Transcription of Oncogenic Sulfatase-2 Gene in Breast Cancer Cells and Is Sensible Targets for Cancer Therapy

, 2023
Ping Yang, Yingnan Qiao, Huaidong Liao, Yizheng Huang, Mei Meng, Yu Chen, Quansheng Zhou   +6 more
openalex   +1 more source

Sulfatase-Modifying Factor 1 [PDF]

, 2020
National Cancer Institute
openalex   +1 more source

Steroid Sulfatase and Estrogen Sulfotransferase in the Atherosclerotic Human Aorta [PDF]

, 2003
Yasuhiro Nakamura, Yasuhiro Miki, Takashi Suzuki, Taisuke Nakata, Andrew D. Darnel, Takuya Moriya, Chika Tazawa, Haruo Saito, Tadashi Ishibashi, Shoki Takahashi, Shogo Yamada, Hironobu Sasano   +11 more
openalex   +1 more source

A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency [PDF]

, 2023
Vi Pham, Lívia Sertori Finoti, Margaret M. Cassidy, Jean Ann Maguire, Alyssa Gagne, Elisa A. Waxman, Deborah L. French, Kaitlyn King, Zitao Zhou, Michael H. Gelb, Parith Wongkittichote, Xinying Hong, Lars Schlotawa, Beverly L. Davidson, Rebecca C. Ahrens‐Nicklas   +14 more
openalex   +1 more source

Balanços metabólicos do enxofre em pacientes com leucodistrofia metacromática Metabolic balances of sulfur in patients with metachromatic leucodystrophy

Arquivos de Neuro-Psiquiatria, 1968
Foram estudados os balanços metabólicos do enxofre em dois pacientes com a forma juvenil da leucodistrofia metacromática. Foi verificado, em ambos os casos, um balanço positivo desse metaloide, aparentemente não influenciado pelo tipo de dieta (geral ou ...
Horacio M. Canelas, Francisco B. de Jorge, Waldir A. Tognola   +2 more
doaj  

Exploring the Sulfatase 1 Catch Bond Free Energy Landscape using Jarzynski’s Equality [PDF]

, 2018
Volker Walhorn, Ann-Kristin Möller, Christian Bartz, Thomas Dierks, Dario Anselmetti   +4 more
openalex   +1 more source

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  

A Novel mutation in iduronate-2-sulfatase gene Exon 6 of an Indonesian patient with Mucopolysaccharidosis type II

, 2018
Afifah Nur Aini Putri Aini Putri, Rizky Priambodo, Yulia Ariani, Y Pangestika, Cut Nurul Hafifah, Anom Bowolaksono, Damayanti Rusli Sjarif   +6 more
openalex   +1 more source