Zobrazeno 1 - 10
of 66
pro vyhledávání: '"J. A. Jans"'
Autor:
Clara D. M. van Karnebeek, Anne O’Donnell-Luria, Gareth Baynam, Anaïs Baudot, Tudor Groza, Judith J. M. Jans, Timo Lassmann, Mary Catherine V. Letinturier, Stephen B. Montgomery, Peter N. Robinson, Stefaan Sansen, Ruty Mehrian-Shai, Charles Steward, Kenjiro Kosaki, Patricia Durao, Bekim Sadikovic
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-16 (2024)
Abstract Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: “Ensuri
Externí odkaz:
https://doaj.org/article/669290e2ed32488ea080f09a5a972315
Autor:
Myrthe J. vanDijk, Marissa J. M. Traets, Brigitte A. vanOirschot, Titine J. J. Ruiter, Jonathan R. A. deWilde, Jennifer Bos, Wouter W. vanSolinge, Margaret J. Koziel, Judith J. M. Jans, Revati Wani, Eduard J. vanBeers, Richard vanWijk, Minke A. E. Rab
Publikováno v:
eJHaem, Vol 5, Iss 1, Pp 21-32 (2024)
Abstract The most common forms of sickle cell disease (SCD) are sickle cell anemia (SCA; HbSS) and HbSC disease. In both, especially the more dense, dehydrated and adherent red blood cells (RBCs) with reduced deformability are prone to hemolysis and
Externí odkaz:
https://doaj.org/article/5971cafe7aaa4faf9fa2faf2e50506c9
Autor:
Myrthe J. vanDijk, Titine J. J. Ruiter, Sigrid van derVeen, Minke A. E. Rab, Brigitte A. vanOirschot, Jennifer Bos, Cleo Derichs, Anita W. Rijneveld, Marjon H. Cnossen, Erfan Nur, Bart J. Biemond, Marije Bartels, Roger E. G. Schutgens, Wouter W. vanSolinge, Judith J. M. Jans, Eduard J. vanBeers, Richard vanWijk
Publikováno v:
HemaSphere, Vol 8, Iss 6, Pp n/a-n/a (2024)
Abstract Mitapivat is an investigational, oral, small‐molecule allosteric activator of pyruvate kinase (PK). PK is a regulatory glycolytic enzyme that is key in providing the red blood cell (RBC) with sufficient amounts of adenosine triphosphate (A
Externí odkaz:
https://doaj.org/article/bcc0781acd414b6887f27e3ebc945a34
Autor:
Lynne Rumping, Petra J. W. Pouwels, Nicole I. Wolf, Holger Rehmann, Mirjam M. C. Wamelink, Quinten Waisfisz, Judith J. M. Jans, Hubertus C. M. T. Prinsen, Jiddeke M. van deKamp, Peter M. vanHasselt
Publikováno v:
JIMD Reports, Vol 64, Iss 3, Pp 217-222 (2023)
Abstract Glutaminase (GLS) hyperactivity was first described in 2019 in a patient with profound developmental delay and infantile cataract. Here, we describe a 4‐year‐old boy with GLS hyperactivity due to a de novo heterozygous missense variant i
Externí odkaz:
https://doaj.org/article/8c7f34563de04820aa37ab8ad392ba9f
Autor:
Nils W. F. Meijer, Susan Zwakenberg, Johan Gerrits, Denise Westland, Arif I. Ardisasmita, Sabine A. Fuchs, Nanda M. Verhoeven-Duif, Judith J. M. Jans, Fried J. T. Zwartkruis
Publikováno v:
Metabolites, Vol 14, Iss 5, p 246 (2024)
Direct infusion–high-resolution mass spectrometry (DI-HRMS) allows for rapid profiling of complex mixtures of metabolites in blood, cerebrospinal fluid, tissue samples and cultured cells. Here, we present a DI-HRMS method suitable for the rapid det
Externí odkaz:
https://doaj.org/article/d7a1eb86047547ed993cb54f3f93b1c8
Autor:
Anke P. Willems, Maria van der Ham, Birgit G. M. Schiebergen-Bronkhorst, Mirjam van Aalderen, Martina M. J. de Barse, Fini E. De Gruyter, Ilja N. van Hoek, Mia L. Pras-Raves, Monique G. M. de Sain-van der Velden, Hubertus C. M. T. Prinsen, Nanda M. Verhoeven-Duif, Judith J. M. Jans
Publikováno v:
Frontiers in Molecular Biosciences, Vol 10 (2023)
Background: Early diagnosis of inherited metabolic diseases (IMDs) is important because treatment may lead to reduced mortality and improved prognosis. Due to their diversity, it is a challenge to diagnose IMDs in time, effecting an emerging need for
Externí odkaz:
https://doaj.org/article/89486e7f1dfe48a3b0c77bddceeb9e23
Autor:
Mirjam E. van Albada, Pratik Shah, Terry G. J. Derks, Sabine Fuchs, Judith J. M. Jans, Valérie McLin, Hubert P. J. van der Doef
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
In physiological glucose homeostasis, the liver plays a crucial role in the extraction of glucose from the portal circulation and storage as glycogen to enable release through glycogenolysis upon fasting. In addition, insulin secreted by the pancreas
Externí odkaz:
https://doaj.org/article/2890f2219f7e446abc07dfb33d25ebfc
Autor:
Nils W. F. Meijer, Johan Gerrits, Susan Zwakenberg, Fried J. T. Zwartkruis, Nanda M. Verhoeven-Duif, Judith J. M. Jans
Publikováno v:
Metabolites, Vol 13, Iss 12, p 1196 (2023)
NAD synthetase 1 (encoded by the gene NADSYN1) is a cytosolic enzyme that catalyzes the final step in the biosynthesis of nicotinamide adenine dinucleotide (NAD+) from tryptophan and nicotinic acid. NADSYN1 deficiency has recently been added to the s
Externí odkaz:
https://doaj.org/article/9e00fe961e6c47efa16164d992d87e11
Autor:
Melanie T. Achleitner, Judith J. M. Jans, Laura Ebner, Johannes Spenger, Vassiliki Konstantopoulou, René G. Feichtinger, Karin Brugger, Doris Mayr, Ron A. Wevers, Christian Thiel, Saskia B. Wortmann, Johannes A. Mayr
Publikováno v:
Metabolites, Vol 13, Iss 11, p 1141 (2023)
Two siblings showed increased galactose and galactose-related metabolites in neonatal screening. Diagnostic workup did not reveal abnormalities in any of the known disease-causing enzymes involved in galactose metabolism. Using whole-exome sequencing
Externí odkaz:
https://doaj.org/article/dc3aef11382044e895ecfc7cc14db061
Autor:
Dorinde Korteling, Marco P. Boks, Ania M. Fiksinski, Ilja N. van Hoek, Jacob A. S. Vorstman, Nanda M. Verhoeven-Duif, Judith J. M. Jans, Janneke R. Zinkstok
Publikováno v:
Translational Psychiatry, Vol 12, Iss 1, Pp 1-7 (2022)
Abstract The 22q11.2 deletion syndrome (22q11.2DS) is characterized by a well-defined microdeletion and is associated with increased risk of neurodevelopmental phenotypes including autism spectrum disorders (ASD) and intellectual impairment. The typi
Externí odkaz:
https://doaj.org/article/813bd39245924393afee3b6cedb922b1