Results 11 to 20 of about 22,801 (226)

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

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

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   +3 more sources

Bacterial constipation: Mucin-degrading intestinal commensal bacteria cause constipation [PDF]

Gut Microbes
The contribution of gut microbes to constipation remains mechanistically underexplored, despite constipation being one of the most prevalent gastrointestinal disorders.
Tomonari Hamaguchi, Noriaki Gibo, Misuzu Ohara, Mikako Ito, Tomoyuki Ogura, Jun-Ichi Takeda, Hiroshi Nishiwaki, Fei Zhao, Ryo Kinoshita-Daitoku, Masashi Hattori, Koji Nonogaki, Tetsuya Maeda, Kenichi Kashihara, Yoshio Tsuboi, Masaaki Hirayama, Mitsuhiro Fujishiro, Hiroki Kawashima, Kinji Ohno   +17 more
doaj   +2 more sources

Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency [PDF]

Communications Medicine
Background Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by loss of function mutations in the SUMF1 gene that manifests as a severe pediatric neurological disease.
Maximiliano Presa, Rachel M. Bailey, Somdatta Ray, Lauren Bailey, Saurabh Tata, Tara Murphy, Pierre-Alexandre Piec, Harold Combs, Steven J. Gray, Cathleen Lutz   +9 more
doaj   +2 more sources

Biodistribution of Idursulfase Formulated for Intrathecal Use (Idursulfase-IT) in Cynomolgus Monkeys after Intrathecal Lumbar Administration. [PDF]

PLoS ONE, 2016
Enzyme replacement therapy with intravenous idursulfase (recombinant iduronate-2-sulfatase) is approved for the treatment of Hunter syndrome. Intravenous administration does not, however, treat the neurological manifestations, due to its low central ...
Jou-Ku Chung, Eilish Brown, Bob Crooker, Kathleen J Palmieri, Thomas G McCauley   +4 more
doaj   +1 more source

Increasing productivity of arylsulfatase B-producing cell line by coexpression of formylglycine-generating enzyme

Биопрепараты: Профилактика, диагностика, лечение, 2022
Mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome) is an orphan genetic disease caused by deficiency of the lysosomal enzyme arylsulfatase B (ASB).
S. S. Timonova, K. A. Smolova, D. T. Zaripova, M. S. Pantyushenko, M. A. Koroleva, R. L. Anisimov, R. A. Khamitov, A. A. Piskunov, V. N. Bade   +8 more
doaj   +1 more source

Apolipoprotein F is reduced in humans with steatosis and controls plasma triglyceride‐rich lipoprotein metabolism

Hepatology, EarlyView., 2022
Hepatic APOF transcript levels correlate inversely with plasma TG and hepatic steatosis in humans. ApoF expression in mice promotes VLDL‐TG production and lipoprotein remnant clearance in mice. Abstract Background NAFLD affects nearly 25% of the global population. Cardiovascular disease (CVD) is the most common cause of death among patients with NAFLD,
Audrey Deprince, Nathalie Hennuyer, Sander Kooijman, Amanda C. M. Pronk, Eric Baugé, Viktor Lienard, An Verrijken, Eveline Dirinck, Luisa Vonghia, Eloïse Woitrain, Niels J. Kloosterhuis, Eléonore Marez, Pauline Jacquemain, Justina C. Wolters, Fanny Lalloyer, Delphine Eberlé, Sandrine Quemener, Emmanuelle Vallez, Anne Tailleux, Mostafa Kouach, Jean‐Francois Goossens, Violeta Raverdy, Bruno Derudas, Jan Albert Kuivenhoven, Mikaël Croyal, Bart van de Sluis, Sven Francque, François Pattou, Patrick C. N. Rensen, Bart Staels, Joel T. Haas   +30 more
wiley   +1 more source

Novel 3-Substituted 8-Methoxycoumarin Derivatives as Anti-Breast Cancer Drugs

Crystals, 2023
Scientists have been interested in hybrid coumarin derivatives due to their wide clinical anticancer use. Herein, ethyl 8-methoxycoumarin-3-carboxylate (Compound 1) served as the starting material for the synthesis of a series of novel hybrid coumarin ...
Tarfah Al-Warhi, Ola A. Abu Ali, Leena S. Alqahtani, Eman Abo-Elabass, Mohammed El Behery, Atef E. Abd El-Baky, Mohamed Samir A. Zaki, Eman Fayad, Eman M. Radwan   +8 more
doaj   +1 more source

The Development of a Smart Magnetic Resonance Imaging and Chemical Exchange Saturation Transfer Contrast Agent for the Imaging of Sulfatase Activity

Pharmaceuticals, 2023
The molecular imaging of biomarkers plays an increasing role in medical diagnostics. In particular, the imaging of enzyme activity is a promising approach, as it enables the use of its inherent catalytic activity for the amplification of an imaging ...
Ilse M. Welleman, Friederike Reeβing, Hendrikus H. Boersma, Rudi A. J. O. Dierckx, Ben L. Feringa, Wiktor Szymanski   +5 more
doaj   +1 more source

Steroid Sulfatase Deficiency [PDF]

Pediatric Research, 1977
Placental steroid sulfatase deficiency is a genetic disorder only recently reported in the medical literature. Most documented cases of placental sulfatase deficiency have been marked by delay in onset of labor, lack of cervical dilatation, and relative refractoriness of oxytocic agents and amniotomy. We have studied the placenta, cultured fibroblasts,
L J, Shapiro, L, Cousins, A L, Fluharty, R L, Stevens, H, Kihara   +4 more
openaire   +2 more sources