Search Results - "Jans, Judith J."

Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases by van Karnebeek, Clara D M, O'Donnell-Luria, Anne, Baynam, Gareth, Baudot, Anaïs, Groza, Tudor, Jans, Judith J M, Lassmann, Timo, Letinturier, Mary Catherine V, Montgomery, Stephen B, Robinson, Peter N, Sansen, Stefaan, Mehrian-Shai, Ruty, Steward, Charles, Kosaki, Kenjiro, Durao, Patricia, Sadikovic, Bekim

“…Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International…”
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Identification of human D lactate dehydrogenase deficiency by Monroe, Glen R., van Eerde, Albertien M., Tessadori, Federico, Duran, Karen J., Savelberg, Sanne M. C., van Alfen, Johanna C., Terhal, Paulien A., van der Crabben, Saskia N., Lichtenbelt, Klaske D., Fuchs, Sabine A., Gerrits, Johan, van Roosmalen, Markus J., van Gassen, Koen L., van Aalderen, Mirjam, Koot, Bart G., Oostendorp, Marlies, Duran, Marinus, Visser, Gepke, de Koning, Tom J., Calì, Francesco, Bosco, Paolo, Geleijns, Karin, de Sain-van der Velden, Monique G. M., Knoers, Nine V., Bakkers, Jeroen, Verhoeven-Duif, Nanda M., van Haaften, Gijs, Jans, Judith J.

“…Phenotypic and biochemical categorization of humans with detrimental variants can provide valuable information on gene function. We illustrate this with the…”
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Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder by Lipstein, Noa, Verhoeven-Duif, Nanda M, Michelassi, Francesco E, Calloway, Nathaniel, van Hasselt, Peter M, Pienkowska, Katarzyna, van Haaften, Gijs, van Haelst, Mieke M, van Empelen, Ron, Cuppen, Inge, van Teeseling, Heleen C, Evelein, Annemieke M V, Vorstman, Jacob A, Thoms, Sven, Jahn, Olaf, Duran, Karen J, Monroe, Glen R, Ryan, Timothy A, Taschenberger, Holger, Dittman, Jeremy S, Rhee, Jeong-Seop, Visser, Gepke, Jans, Judith J, Brose, Nils

“…Munc13 proteins are essential regulators of neurotransmitter release at nerve cell synapses. They mediate the priming step that renders synaptic vesicles…”
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Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications by Haijes, Hanneke A., Jans, Judith J. M., Tas, Simone Y., Verhoeven‐Duif, Nanda M., Hasselt, Peter M.

“…Over the last decades, advances in clinical care for patients suffering from propionic acidemia (PA) and isolated methylmalonic acidemia (MMA) have resulted in…”
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Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy by Rumping, Lynne, Büttner, Benjamin, Maier, Oliver, Rehmann, Holger, Lequin, Maarten, Schlump, Jan-Ulrich, Schmitt, Bernhard, Schiebergen-Bronkhorst, Birgit, Prinsen, Hubertus C M T, Losa, Michele, Fingerhut, Ralph, Lemke, Johannes R, Zwartkruis, Fried J T, Houwen, Roderick H J, Jans, Judith J M, Verhoeven-Duif, Nanda M, van Hasselt, Peter M, Jamra, Rami

“…The identification and understanding of the monogenic causes of neurodevelopmental disorders are of high importance for personalized treatment and genetic…”
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Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency by Van Dooijeweert, Birgit, Broeks, Melissa H, Verhoeven-Duif, Nanda M, Van Beers, Eduard J, Nieuwenhuis, Edward E S, Van Solinge, Wouter W, Bartels, Marije, Jans, Judith J, Van Wijk, Richard

“…The diagnostic evaluation and clinical characterization of rare hereditary anemia (RHA) is to date still challenging. In particular, there is little knowledge…”
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Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome by Korteling, Dorinde, Boks, Marco P., Fiksinski, Ania M., van Hoek, Ilja N., Vorstman, Jacob A. S., Verhoeven-Duif, Nanda M., Jans, Judith J. M., Zinkstok, Janneke R.

“…The 22q11.2 deletion syndrome (22q11.2DS) is characterized by a well-defined microdeletion and is associated with increased risk of neurodevelopmental…”
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MetaboShiny: interactive analysis and metabolite annotation of mass spectrometry-based metabolomics data by Wolthuis, Joanna C., Magnusdottir, Stefania, Pras-Raves, Mia, Moshiri, Maryam, Jans, Judith J. M., Burgering, Boudewijn, van Mil, Saskia, de Ridder, Jeroen

“…Direct infusion untargeted mass spectrometry-based metabolomics allows for rapid insight into a sample’s metabolic activity. However, analysis is often…”
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Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies by Haijes, Hanneke A., Hasselt, Peter M., Jans, Judith J. M., Verhoeven‐Duif, Nanda M.

“…Despite realizing increased survival rates for propionic acidemia (PA) and methylmalonic acidemia (MMA) patients, the current therapeutic regimen is inadequate…”
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Metabolic Alterations in NADSYN1-Deficient Cells by Meijer, Nils W F, Gerrits, Johan, Zwakenberg, Susan, Zwartkruis, Fried J T, Verhoeven-Duif, Nanda M, Jans, Judith J M

“…NAD synthetase 1 (encoded by the gene NADSYN1) is a cytosolic enzyme that catalyzes the final step in the biosynthesis of nicotinamide adenine dinucleotide…”
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Vitamin B6 is essential for serine de novo biosynthesis by Ramos, Rúben J., Pras-Raves, Mia L., Gerrits, Johan, van der Ham, Maria, Willemsen, Marcel, Prinsen, Hubertus, Burgering, Boudewijn, Jans, Judith J., Verhoeven-Duif, Nanda M.

“…Pyridoxal 5′-phosphate (PLP), the metabolically active form of vitamin B6, plays an essential role in brain metabolism as a cofactor in numerous enzyme…”
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Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable Isotopes by Meijer, Nils W F, Zwakenberg, Susan, Gerrits, Johan, Westland, Denise, Ardisasmita, Arif I, Fuchs, Sabine A, Verhoeven-Duif, Nanda M, Jans, Judith J M, Zwartkruis, Fried J T

“…Direct infusion-high-resolution mass spectrometry (DI-HRMS) allows for rapid profiling of complex mixtures of metabolites in blood, cerebrospinal fluid, tissue…”
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Vitamin B6 in plasma and cerebrospinal fluid of children by Albersen, Monique, Bosma, Marjolein, Jans, Judith J M, Hofstede, Floris C, van Hasselt, Peter M, de Sain-van der Velden, Monique G M, Visser, Gepke, Verhoeven-Duif, Nanda M

“…Over the past years, the essential role of vitamin B6 in brain development and functioning has been recognized and genetic metabolic disorders resulting in…”
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PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening by Achleitner, Melanie T, Jans, Judith J. M, Ebner, Laura, Spenger, Johannes, Konstantopoulou, Vassiliki, Feichtinger, René G, Brugger, Karin, Mayr, Doris, Wevers, Ron A, Thiel, Christian, Wortmann, Saskia B, Mayr, Johannes A

“…Two siblings showed increased galactose and galactose-related metabolites in neonatal screening. Diagnostic workup did not reveal abnormalities in any of the…”
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Metabolomics in Severe Aortic Stenosis Reveals Intermediates of Nitric Oxide Synthesis as Most Distinctive Markers by van Driel, Beau Olivier, Schuldt, Maike, Algül, Sila, Levin, Evgeni, Güclü, Ahmet, Germans, Tjeerd, Rossum, Albert C van, Pei, Jiayi, Harakalova, Magdalena, Baas, Annette, Jans, Judith J M, van der Velden, Jolanda

“…Calcific aortic valve disease (CAVD) is a rapidly growing global health problem with an estimated 12.6 million cases globally in 2017 and a 112% increase of…”
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Impact of comorbidity on complications after nephrectomy: use of the Clavien Classification of Surgical Complications by Hennus, Pauline M.L., Kroeze, Stephanie G.C., Bosch, J.L.H. Ruud, Jans, Judith J.M.

“…Study Type – Retrospective (cohort) Level of Evidence 2b What's known on the subject? and What does the study add? Tumour characteristics, physical status and…”
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Abnormal glucose homeostasis and fasting intolerance in patients with congenital porto-systemic shunts by van Albada, Mirjam E., Shah, Pratik, Derks, Terry G. J., Fuchs, Sabine, Jans, Judith J. M., McLin, Valérie, van der Doef, Hubert P. J.

“…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…”
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Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm by Haijes, Hanneke A, van der Ham, Maria, Prinsen, Hubertus C M T, Broeks, Melissa H, van Hasselt, Peter M, de Sain-van der Velden, Monique G M, Verhoeven-Duif, Nanda M, Jans, Judith J M

“…Untargeted metabolomics may become a standard approach to address diagnostic requests, but, at present, data interpretation is very labor-intensive. To…”
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Analysis of the genomic response of human prostate cancer cells to histone deacetylase inhibitors by Kortenhorst, Madeleine SQ, Wissing, Michel D, Rodriguez, Ronald, Kachhap, Sushant K, Jans, Judith JM, Van der Groep, Petra, Verheul, Henk MW, Gupta, Anuj, Aiyetan, Paul O, van der Wall, Elsken, Carducci, Michael A, Van Diest, Paul J, Marchionni, Luigi

“…Histone deacetylases (HDACs) have emerged as important targets for cancer treatment. HDAC-inhibitors (HDACis) are well tolerated in patients and have been…”
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Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma by Haijes, Hanneke A, Willemsen, Marcel, Van der Ham, Maria, Gerrits, Johan, Pras-Raves, Mia L, Prinsen, Hubertus C M T, Van Hasselt, Peter M, De Sain-van der Velden, Monique G M, Verhoeven-Duif, Nanda M, Jans, Judith J M

“…In metabolic diagnostics, there is an emerging need for a comprehensive test to acquire a complete view of metabolite status. Here, we describe a…”
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