Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Hubertus C. M. T. Prinsen"'
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:
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:
Karlien L. M. Coene, Corrie Timmer, Susan M. I. Goorden, Amber E. tenHoedt, Leo A. J. Kluijtmans, Mirian C. H. Janssen, Alexander J. M. Rennings, Hubertus C. M. T. Prinsen, Mirjam M. C. Wamelink, George J. G. Ruijter, Irene M. L. W. Körver‐Keularts, M. Rebecca Heiner‐Fokkema, Francjan J. vanSpronsen, Carla E. Hollak, Frédéric M. Vaz, Annet M. Bosch, Marleen C. D. G. Huigen
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 70-79 (2021)
Abstract Background Reliable measurement of phenylalanine (Phe) is a prerequisite for adequate follow‐up of phenylketonuria (PKU) patients. However, previous studies have raised concerns on the intercomparability of plasma and dried blood spot (DBS
Externí odkaz:
https://doaj.org/article/d052d767889e424bba5ce6198d1a2d46
Autor:
Marten H. P. M. Kerkhofs, Hanneke A. Haijes, A. Marcel Willemsen, Koen L. I. van Gassen, Maria van der Ham, Johan Gerrits, Monique G. M. de Sain-van der Velden, Hubertus C. M. T. Prinsen, Hanneke W. M. van Deutekom, Peter M. van Hasselt, Nanda M. Verhoeven-Duif, Judith J. M. Jans
Publikováno v:
Metabolites, Vol 10, Iss 5, p 206 (2020)
Next-generation sequencing and next-generation metabolic screening are, independently, increasingly applied in clinical diagnostics of inborn errors of metabolism (IEM). Integrated into a single bioinformatic method, these two –omics technologies c
Externí odkaz:
https://doaj.org/article/0f1989cf6b244a9cb2ff3dced237e8fd
Autor:
Hanneke A. Haijes, Marcel Willemsen, Maria Van der Ham, Johan Gerrits, Mia L. Pras-Raves, Hubertus C. M. T. Prinsen, Peter M. Van Hasselt, Monique G. M. De Sain-van der Velden, Nanda M. Verhoeven-Duif, Judith J. M. Jans
Publikováno v:
Metabolites, Vol 9, Iss 1, p 12 (2019)
In metabolic diagnostics, there is an emerging need for a comprehensive test to acquire a complete view of metabolite status. Here, we describe a non-quantitative direct-infusion high-resolution mass spectrometry (DI-HRMS) based metabolomics method a
Externí odkaz:
https://doaj.org/article/f11723bf334b4ab69cbe6cb8e48d9633
Autor:
Monique G M, de Sain-van der Velden, Willemijn F E, Kuper, Marie-Anne, Kuijper, Lenneke A T, van Kats, Hubertus C M T, Prinsen, Astrid C J, Balemans, Gepke, Visser, Koen L I, van Gassen, Peter M, van Hasselt
Publikováno v:
JIMD reports. 42
Biallelic mutations in DNAJC12 were recently identified as a BHA boy with developmental delay, an extrapyramidal movement disorder, and persistently elevated plasma phenylalanine levels was diagnosed with DNAJC12 deficiency at the age of 15 years. Di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::72678a9f91955b7f75613a0d4839835e
https://pubmed.ncbi.nlm.nih.gov/29380259
https://pubmed.ncbi.nlm.nih.gov/29380259