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http://dx.doi.org/10.1038/s41593-020-0702-y | DOI Listing |
Commun Med (Lond)
January 2025
Department of Pediatrics, Division of Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA.
Background: Multiple sulfatase deficiency (MSD) is an exceptionally rare neurodegenerative disorder due to the absence or deficiency of 17 known cellular sulfatases. The activation of all these cellular sulfatases is dependent on the presence of the formylglycine-generating enzyme, which is encoded by the SUMF1 gene. Disease-causing homozygous or compound heterozygous variants in SUMF1 result in MSD.
View Article and Find Full Text PDFNPJ Precis Oncol
January 2025
Department of Pathology and Laboratory Medicine, SUNY Upstate Medical University, Syracuse, NY, USA.
BMC Health Serv Res
January 2025
Department of Clinical Pharmacology and Evidence-Based Medicine, NCJSC "Karaganda Medical University", 40, Gogolya St, Karaganda, 100000, Kazakhstan.
Background: Kazakhstan inherited the Semashko health system model, known for the centralized adoption of rules at the Ministry of Health (MoH) level that regulate the healthcare system. In 2019 MoH established a national framework with indicators aimed at collecting qualitative and quantitative data from healthcare organizations as part of their annual self-evaluation, and biannual external evaluation by the National Research Center for Health Development (NRCHD). The purpose of this study was to pilot the MoH framework on rational use of medicines and evaluate its effects on medicine use practices in health care organizations and at the national level.
View Article and Find Full Text PDFBMC Pregnancy Childbirth
January 2025
Department of Pediatrics, College of Medicine, University of Ibadan & University College Hospital, Ibadan, Ibadan, Oyo State, Nigeria.
BMC Pregnancy Childbirth
January 2025
Department of Reproductive Health and Family Planning, Medical Research Institute, National Research Centre, Cairo, Egypt.
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