Results 1 to 10 of about 85,935 (119)

Regulatory Standards in Orphan Medicinal Product Designation in the EU

Frontiers in Medicine, 2021
Twenty years of orphan regulation in Europe have now elapsed, with almost 2,400 orphan designated medicinal products and more than 190 orphan products authorised in the EU.
Segundo Mariz, Kristina Larsson, Armando Magrelli   +2 more
exaly   +3 more sources

Manifestasi Acturian Terhadap Tanggung Jawab Berkelanjutan Pada Anak Yatim Piatu Korban Pandemi Covid-19

Asas wa Tandhim, 2022
This study aims to examine using a structural approach regarding the institutional scope of world bodies in manifesting Acturian Actors in the context of global children's rights as a strengthening of regulations on sustainable custody that must be ...
Agus Pandoman
doaj   +1 more source

Arginase 1 Deficiency: using genetic databases as a tool to establish global prevalence

Orphanet Journal of Rare Diseases, 2022
Background/objective Arginase 1 Deficiency (ARG1-D) is a rare inherited metabolic disease with progressive, devastating neurological manifestations with early mortality and high unmet need.
C. Catsburg, S. Anderson, N. Upadhyaya, M. Bechter   +3 more
doaj   +1 more source

Children orphaned from COVID-19 in Thailand: maximize use of civil registration database for policies

Frontiers in Public Health, 2023
Orphans, especially those who experience maternal loss at a young age, face significant long-term negative impacts on their lives and psychological well-being, extending beyond the age of 18. As of July 2023, the global death toll of COVID-19 has reached
Viroj Tangcharoensathien, Sopon Iamsirithaworn, Jongjit Rittirong, Sanchai Techanimitvat, Patama Vapattanawong, Lucksana Apiratipanya, Thiphaphon Chanthama, Putthipanya Rueangsom   +7 more
doaj   +1 more source

Characterisation of Type II DNA Methyltransferases of Metamycoplasma hominis

Microorganisms, 2023
Bacterial virulence, persistence and defence are affected by epigenetic modifications, including DNA methylation. Solitary DNA methyltransferases modulate a variety of cellular processes and influence bacterial virulence; as part of a restriction ...
Lars Vogelgsang, Azlan Nisar, Sebastian Alexander Scharf, Anna Rommerskirchen, Dana Belick, Alexander Dilthey, Birgit Henrich   +6 more
doaj   +1 more source

Intravenous delivery of a chemically modified sulfamidase efficiently reduces heparan sulfate storage and brain pathology in mucopolysaccharidosis IIIA mice

Molecular Genetics and Metabolism Reports, 2019
Mucopolysaccharidosis type IIIA (MPS IIIA) is a lysosomal storage disorder (LSD) characterized by severe central nervous system (CNS) degeneration.
Susanne Gustavsson, Elisabet Ohlin Sjöström, Agneta Tjernberg, Juliette Janson, Ulrica Westermark, Tommy Andersson, Åsa Makower, Erik Arnelöf, Gudrun Andersson, Jan Svartengren, Carina Ekholm, Stefan Svensson Gelius   +11 more
doaj   +1 more source

Socio-demographic correlates of childhood malnutrition in a rural community in Southwest Nigeria - A call for targeted interventions for vulnerable children

Rwanda Medical Journal, 2022
ACKGROUND: Nigeria has the second-highest burden of stunted children globally. Yet, only two out of ten malnourished Nigerian children benefit from intervention programs to address malnutrition.
O. A. T. Fatunla, O. S. Olatunya, E. O. Ogundare, T. O. Fatunla, T. A. Agbesanwa, A. B. Taiwo, O. A. Oyelami   +6 more
doaj   +1 more source

Study of humoral immunity indices for assessing physical exhaustion in sports

Медицинская иммунология, 2023
Studies of real opportunities for physical skills of athletes sufficiently depend on their adaptive potential for increasing physical loads. Extreme physical and psychoemotional loads may lead to overwork and decreased physical ability in professional ...
M. A. Myagkova, S. N. Petrochenko, Z. B. Bobrova, E. A. Orlova, A. S. Krylov, I. A. Moseikin   +5 more
doaj   +1 more source

Prevalence, characteristics, and costs of diagnosed homocystinuria, elevated homocysteine, and phenylketonuria in the United States: a retrospective claims-based comparison

BMC Health Services Research, 2020
Background Classical homocystinuria (HCU), an inborn error of homocysteine metabolism, has previously been estimated to affect approximately 1 in 100,000–200,000 people in the United States (US).
Marcia Sellos-Moura, Frank Glavin, David Lapidus, Kristin Evans, Carolyn R. Lew, Debra E. Irwin   +5 more
doaj   +1 more source

Pompe disease clinical and laboratory diagnostic features

Zdorovʹe Rebenka, 2017
Background. Analysis of Pompe disease (PD) clinical features in children in order to determine its main clinical and laboratory characteristics based on the results of laboratory and instrumental studies that allow to select such patients into the ...
N.O. Pichkur, N.V. Olkhovych, T.P. Ivanova, N.V. Samonenko   +3 more
doaj   +1 more source