المؤلفون: 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

المصدر: JIMD Reports, Vol 64, Iss 3, Pp 217-222 (2023)

مصطلحات موضوعية: epilepsy, GLS hyperactivity, glutamate, high‐throughput sequencing, phenotypic spectrum, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/8c7f34563de04820aa37ab8ad392ba9f

المؤلفون: Elise A. Ferreira, Mark J. N. Buijs, Robin Wijngaard, Joost G. Daams, Mareen R. Datema, Marc Engelen, Clara D. M. van Karnebeek, Machteld M. Oud, Frédéric M. Vaz, Mirjam M. C. Wamelink, Saskia N. van der Crabben, Mirjam Langeveld

المصدر: Frontiers in Neurology, Vol 14 (2023)

مصطلحات موضوعية: inherited metabolic disorders (IMD), metabolic, genomics, adults, diagnostics, exome sequencing, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2023.1206106/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/c44c3636bfe843e397324a3fa470aac2

المؤلفون: 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

المصدر: JIMD Reports, Vol 58, Iss 1, Pp 70-79 (2021)

مصطلحات موضوعية: bloodspot, DBS, hyperphenylalaninemia, laboratory variation, measurement, phenylalanine, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/d052d767889e424bba5ce6198d1a2d46

المؤلفون: Taco W. Kuijpers, Andrica C. H. de Vries, Ester M. van Leeuwen, A.(Ton) A. M. Ermens, Saskia de Pont, Desirée E. C. Smith, Mirjam M. C. Wamelink, Arjen R. Mensenkamp, Marcel R. Nelen, Hana Lango Allen, Steven T. Pals, Berna H. B. Beverloo, Hidde H. Huidekoper, Anja Wagner

المساهمون: Pediatrics, Clinical chemistry, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Clinical Genetics, Paediatric Infectious Diseases / Rheumatology / Immunology, AII - Inflammatory diseases, ARD - Amsterdam Reproduction and Development, Experimental Immunology, CCA - Cancer biology and immunology, Laboratory Genetic Metabolic Diseases, Pathology, 09 Laboratory specialisms

المصدر: Blood, 6(22), 5829-5834. American Society of Hematology
NIHR BioResource Study Group 2022, ' Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene ', Blood, vol. 6, no. 22, pp. 5829-5834 . https://doi.org/10.1182/bloodadvances.2022007233
Blood advances, 6(22), 5829-5834. American Society of Hematology
Blood Advances, 6, 22, pp. 5829-5834
Blood Advances, 6, 5829-5834

مصطلحات موضوعية: Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Leukemia, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Homozygote, Mutation, Humans, Anemia, Hematology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56771080af5c706649bb1d0c336a4c91
https://research.vumc.nl/en/publications/7c387e00-6db9-4862-a1eb-671b0c8d707d

المؤلفون: Jiddeke M. van de Kamp, Arend Bökenkamp, Desiree E. C. Smith, Mirjam M. C. Wamelink, Erwin E. W. Jansen, Eduard A. Struys, Quinten Waisfisz, Marieke Verkleij, Michaela F. Hartmann, Rong Wang, Stefan A. Wudy, Chiara Paganini, Antonio Rossi, Martijn J. J. Finken

المساهمون: Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Gastroenterology Endocrinology Metabolism, Pediatrics, Amsterdam Reproduction & Development (AR&D), Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism, AGEM - Endocrinology, metabolism and nutrition, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Laboratory Medicine, Psychiatry, Clinical chemistry

المصدر: van de Kamp, J M, Bökenkamp, A, Smith, D E C, Wamelink, M M C, Jansen, E E W, Struys, E A, Waisfisz, Q, Verkleij, M, Hartmann, M F, Wang, R, Wudy, S A, Paganini, C, Rossi, A & Finken, M J J 2023, ' Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo-epi-metaphyseal dysplasia ', Clinical Genetics, vol. 103, no. 1, pp. 45-52 . https://doi.org/10.1111/cge.14239
Clinical Genetics, 103(1), 45-52. Wiley-Blackwell

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38f912b4df94fea3356cb682c253b22d
https://pubmed.ncbi.nlm.nih.gov/36175384

المؤلفون: Merel E. Hermans, Michel van Weeghel, Frédéric M. Vaz, Sacha Ferdinandusse, Carla E. M. Hollak, Hidde H. Huidekoper, Mirian C. H. Janssen, André B. P. van Kuilenburg, Mia L. Pras‐Raves, Mirjam M. C. Wamelink, Ronald J. A. Wanders, Mendy M. Welsink‐Karssies, Annet M. Bosch

المساهمون: Graduate School, Medical Psychology, Laboratory Genetic Metabolic Diseases, ACS - Diabetes & metabolism, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, APH - Personalized Medicine, APH - Methodology, Endocrinology, Laboratory for General Clinical Chemistry, ARD - Amsterdam Reproduction and Development, Paediatrics, Rehabilitation medicine, Paediatric Metabolic Diseases, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pediatrics

المصدر: Hermans, M E, van Weeghel, M, Vaz, F M, Ferdinandusse, S, Hollak, C E M, Huidekoper, H H, Janssen, M C H, van Kuilenburg, A B P, Pras-Raves, M L, Wamelink, M M C, Wanders, R J A, Welsink-Karssies, M M & Bosch, A M 2022, ' Multi-omics in classical galactosemia : Evidence for the involvement of multiple metabolic pathways ', Journal of Inherited Metabolic Disease, vol. 45, no. 6, pp. 1094-1105 . https://doi.org/10.1002/jimd.12548
Journal of inherited metabolic disease, 45(6), 1094-1105. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(6), 1094-1105. Springer Netherlands
Journal of Inherited Metabolic Disease, 45, 1094-1105
Journal of Inherited Metabolic Disease, 45, 6, pp. 1094-1105

مصطلحات موضوعية: Galactosemias, galactose-1-phosphate, Galactose, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], multi-omics, metabolomics, Phosphates, GALT-deficiency, Adenosine Diphosphate, Adenosine Triphosphate, Genetics, lipidomics, Humans, UTP-Hexose-1-Phosphate Uridylyltransferase, Genetics (clinical), Metabolic Networks and Pathways, Biomarkers, galactosemia

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5ede53ccd11d0b31dfc6f07c3a331c5
https://pubmed.ncbi.nlm.nih.gov/36053831

المؤلفون: Mirjam M. C. Wamelink, Monique Williams

المصدر: Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ISBN: 9783030677268

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5d1d5d56b9ae3d283bade32d406da851
https://doi.org/10.1007/978-3-030-67727-5_40