المؤلفون: Ryan Iverson, Monica Taljaard, Michael T. Geraghty, Michael Pugliese, Kylie Tingley, Doug Coyle, Jonathan B. Kronick, Kumanan Wilson, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Nancy J. Butcher, Alicia K. J. Chan, Sarah Dyack, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain-Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Aizeddin Mhanni, John J. Mitchell, Laura Nagy, Martin Offringa, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Kendra Tapscott, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Anthony Vandersteen, Jagdeep S. Walia, Brenda J. Wilson, Andrea C. Yu, Beth K. Potter, Pranesh Chakraborty

المصدر: BMC Pediatrics, Vol 24, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: MCAD deficiency, Core outcome set, Data quality, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/7eb12ffd1f3f4a9898861100013c4093

المؤلفون: Mehdi Yeganeh, Kaitlin March, Catherine Jones, Gloria Ho, Kathryn A. Selby, Jean-Pierre Chanoine, Sylvia Stockler, Ramona Salvarinova, Gabriella Horvath, Catherine Brunel-Guitton

المصدر: Molecular Genetics and Metabolism Reports, Vol 35, Iss , Pp 100961- (2023)

مصطلحات موضوعية: Hereditary rhabdomyolysis, LPIN1, Dexamethasone, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000071; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/4bbe55608bd74b03b3b3a13e4421fb26

المؤلفون: Alison M. Elliott, Shelin Adam, Christèle du Souich, Anna Lehman, Tanya N. Nelson, Clara van Karnebeek, Emily Alderman, Linlea Armstrong, Gudrun Aubertin, Katherine Blood, Cyrus Boelman, Cornelius Boerkoel, Karla Bretherick, Lindsay Brown, Chieko Chijiwa, Lorne Clarke, Madeline Couse, Susan Creighton, Abby Watts-Dickens, William T. Gibson, Harinder Gill, Maja Tarailo-Graovac, Sara Hamilton, Harindar Heran, Gabriella Horvath, Lijia Huang, Gurdip K. Hulait, David Koehn, Hyun Kyung Lee, Suzanne Lewis, Elena Lopez, Kristal Louie, Karen Niederhoffer, Allison Matthews, Kirsten Meagher, Junran J. Peng, Millan S. Patel, Simone Race, Phillip Richmond, Rosemarie Rupps, Ramona Salvarinova, Kimberly Seath, Kathryn Selby, Michelle Steinraths, Sylvia Stockler, Kaoru Tang, Christine Tyson, Margot van Allen, Wyeth Wasserman, Jill Mwenifumbo, Jan M. Friedman

المصدر: HGG Advances, Vol 3, Iss 3, Pp 100108- (2022)

مصطلحات موضوعية: genome sequencing, exome sequencing, genetic counseling, multidisciplinary approach, diagnostic rate, reanalysis, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247722000240; https://doaj.org/toc/2666-2477

URL الوصول: https://doaj.org/article/d29b9915f4b74cfe801ed2dbe124d5cc

المؤلفون: Abrar Turki, Sylvia Stockler, Sandra Sirrs, Ramona Salvarinova, Gloria Ho, Jennifer Branov, Annie Rosen-Heath, Taryn Bosdet, Rajavel Elango

المصدر: Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100880- (2022)

مصطلحات موضوعية: Glycogen storage disease type Ia, Glucose-6-phosphatase, Uncooked cornstarch, Glycosade®, 13C-glucose, Breath test, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426922000404; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/920b0e4eec9349018abe02e4bad4c684

المؤلفون: Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T. Geraghty, Jonathan B. Kronick, Beth K. Potter, Doug Coyle, Kumanan Wilson, Michael Kowalski, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Alicia K. J. Chan, Sarah Dyack, Annette Feigenbaum, Alette Giezen, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Connie Mohan, Aizeddin Mhanni, Grant Mitchell, John J. Mitchell, Laura Nagy, Melanie Napier, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Hilary Vallance, Anthony Vandersteen, Jagdeep Walia, Ashley Wilson, Brenda J. Wilson, Andrea C. Yu, Nataliya Yuskiv, Pranesh Chakraborty, on behalf of the Canadian Inherited Metabolic Diseases Research Network

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)

مصطلحات موضوعية: Inherited metabolic diseases, Observational research, Registry science, Data quality, Database, Sustainability, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01358-z; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/4dd97f1f0f9c499290bec8147590f10e

المؤلفون: Laura Guilder, Carlos E. Prada, Sofia Saenz, Shailly Jain-Ghai, Natalya Karp, George Mazariegos, Suzanne Ratko, Ramona Salvarinova, Saadet Mercimek-Andrews

المصدر: Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100763- (2021)

مصطلحات موضوعية: Maple syrup urine disease, Liver transplantation, Hyperleucinosis, Branched chain amino acids, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921000574; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/c5df38af4c9146aeb10fddb2dd104490

المؤلفون: Bibiche den Hollander, Anne Rasing, Merel A. Post, Willemijn M. Klein, Machteld M. Oud, Marion M. Brands, Lonneke de Boer, Udo F. H. Engelke, Peter van Essen, Sabine A. Fuchs, Charlotte A. Haaxma, Brynjar O. Jensson, Leo A. J. Kluijtmans, Anna Lengyel, Klaske D. Lichtenbelt, Elsebet Østergaard, Gera Peters, Ramona Salvarinova, Marleen E. H. Simon, Kari Stefansson, Ólafur Thorarensen, Ulrike Ulmen, Karlien L. M. Coene, Michèl A. Willemsen, Dirk J. Lefeber, Clara D. M. van Karnebeek

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: congenital disorder of glycosylation, glycosylation, sialic acid biosynthesis, N-acetyl-D-neuraminic acid, skeletal dysplasia, metabolic disease, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.668640/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/8c594ab0c7de47199c4d3dccb48830a8

المؤلفون: Michelle Demos, Ilaria Guella, Conrado DeGuzman, Marna B. McKenzie, Sarah E. Buerki, Daniel M. Evans, Eric B. Toyota, Cyrus Boelman, Linda L. Huh, Anita Datta, Aspasia Michoulas, Kathryn Selby, Bruce H. Bjornson, Gabriella Horvath, Elena Lopez-Rangel, Clara D. M. van Karnebeek, Ramona Salvarinova, Erin Slade, Patrice Eydoux, Shelin Adam, Margot I. Van Allen, Tanya N. Nelson, Corneliu Bolbocean, Mary B. Connolly, Matthew J. Farrer

المصدر: Frontiers in Neurology, Vol 10 (2019)

مصطلحات موضوعية: targeted WES, early-onset epilepsy, diagnostic yield, cost estimation, Canada, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fneur.2019.00434/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/87c4911416cb4db6b35cb0e08dc098b1

المؤلفون: Ryan Iverson, Monica Taljaard, Michael T. Geraghty, Michael Pugliese, Kylie Tingley, Doug Coyle, Jonathan B. Kronick, Kumanan Wilson, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Nancy J. Butcher, Alicia K. J. Chan, Sarah Dyack, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain-Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Aizeddin Mhanni, John J. Mitchell, Laura Nagy, Martin Offringa, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Kendra Tapscott, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Anthony Vandersteen, Jagdeep S. Walia, Brenda J. Wilson, Andrea C. Yu, Beth K. Potter, Pranesh Chakraborty

مصطلحات موضوعية: Medicine, Physiology, Pharmacology, Biotechnology, Cancer, Mental Health, Computational Biology, MCAD deficiency, Core outcome set, Data quality

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Assessing_the_quality_and_value_of_metabolic_chart_data_for_capturing_core_outcomes_for_pediatric_medium-chain_acyl-CoA_dehydrogenase_MCAD_deficiency/24993673

الاتاحة: https://doi.org/10.6084/m9.figshare.24993673.v1
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Assessing_the_quality_and_value_of_metabolic_chart_data_for_capturing_core_outcomes_for_pediatric_medium-chain_acyl-CoA_dehydrogenase_MCAD_deficiency/24993673

المؤلفون: Mari Mori, Rita Barone, Katrin Õunap, Ramona Salvarinova, Fernando Scaglia, Eva Morava, Jolanta Sykut-Cegielska, Sabine Grønborg, Peter Witters, Miao He, Andrew C. Edmondson, Andrea M. Lewis, Shawn Tahata, George E. Hoganson

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Glycosylation, glycosylation, galactose, Nijmegen Pediatric CDG Rating Scale (NCPRS), Gastroenterology, Article, Postural control, chemistry.chemical_compound, symbols.namesake, Epilepsy, Congenital Disorders of Glycosylation, Swallowing, Internal medicine, SLC35A2-CDG, medicine, Humans, Dietary therapy, Child, Genetics (clinical), glycan, business.industry, Epileptic encephalopathy, Golgi apparatus, medicine.disease, chemistry, Galactose, Dietary Supplements, symbols, Nijmegen Pediatric CDG Rating Scale (NPCRS), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad8e8e2ccdee4bc0dd0d0eb183551a6e
https://doi.org/10.1038/s41436-020-0767-8

المؤلفون: Meer Jacob Rahimi, Nicole Urban, Meret Wegler, Heinrich Sticht, Michael Schaefer, Bernt Popp, Frank Gaunitz, Manuela Morleo, Vincenzo Nigro, Silvia Maitz, Grazia M.S. Mancini, Claudia Ruivenkamp, Eun-Kyung Suk, Tobias Bartolomaeus, Andreas Merkenschlager, Daniel Koboldt, Dennis Bartholomew, Alexander P.A. Stegmann, Margje Sinnema, Irma Duynisveld, Ramona Salvarinova, Simone Race, Bert B.A. de Vries, Aurélien Trimouille, Sophie Naudion, Daphna Marom, Uri Hamiel, Noa Henig, Florence Demurger, Nils Rahner, Enrika Bartels, J. Austin Hamm, Abbey M. Putnam, Richard Person, Rami Abou Jamra, Henry Oppermann

المساهمون: Rahimi, Meer Jacob, Urban, Nicole, Wegler, Meret, Sticht, Heinrich, Schaefer, Michael, Popp, Bernt, Gaunitz, Frank, Morleo, Manuela, Nigro, Vincenzo, Maitz, Silvia, Mancini, Grazia M S, Ruivenkamp, Claudia, Suk, Eun-Kyung, Bartolomaeus, Tobia, Merkenschlager, Andrea, Koboldt, Daniel, Bartholomew, Denni, Stegmann, Alexander P A, Sinnema, Margje, Duynisveld, Irma, Salvarinova, Ramona, Race, Simone, de Vries, Bert B A, Trimouille, Aurélien, Naudion, Sophie, Marom, Daphna, Hamiel, Uri, Henig, Noa, Demurger, Florence, Rahner, Nil, Bartels, Enrika, Hamm, J Austin, Putnam, Abbey M, Person, Richard, Abou Jamra, Rami, Oppermann, Henry, Clinical Genetics, MUMC+: DA KG Lab Specialisten (9), MUMC+: DA KG Lab Centraal Lab (9), MUMC+: DA KG Polikliniek (9), RS: FHML non-thematic output

المصدر: Am J Hum Genet
American Journal of Human Genetics, 109(5), 944-952. Cell Press

مصطلحات موضوعية: EXPRESSION, HOMEOSTASIS, de novo, seizure, HOUSEKEEPING FUNCTION, calcium homeostasi, Mutation, Missense, PLASMA-MEMBRANE CA2+-ATPASE, ISOFORMS, ATP2B1, Nervous System Malformations, development delay, abnormal behavior, Plasma Membrane Calcium-Transporting ATPases, CA2+, Report, BINDING, Genetics, Humans, MUTATION, Genetics (clinical), neurodevelopmental disorder, HEK293 Cells, Phenotype, Neurodevelopmental Disorders, intellectual disability

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d947f693563049c89bd43d0274e9d3c
http://hdl.handle.net/11591/468935

المؤلفون: Alison M. Elliott, Shelin Adam, Christèle du Souich, Anna Lehman, Tanya N. Nelson, Clara van Karnebeek, Emily Alderman, Linlea Armstrong, Gudrun Aubertin, Katherine Blood, Cyrus Boelman, Cornelius Boerkoel, Karla Bretherick, Lindsay Brown, Chieko Chijiwa, Lorne Clarke, Madeline Couse, Susan Creighton, Abby Watts-Dickens, William T. Gibson, Harinder Gill, Maja Tarailo-Graovac, Sara Hamilton, Harindar Heran, Gabriella Horvath, Lijia Huang, Gurdip K. Hulait, David Koehn, Hyun Kyung Lee, Suzanne Lewis, Elena Lopez, Kristal Louie, Karen Niederhoffer, Allison Matthews, Kirsten Meagher, Junran J. Peng, Millan S. Patel, Simone Race, Phillip Richmond, Rosemarie Rupps, Ramona Salvarinova, Kimberly Seath, Kathryn Selby, Michelle Steinraths, Sylvia Stockler, Kaoru Tang, Christine Tyson, Margot van Allen, Wyeth Wasserman, Jill Mwenifumbo, Jan M. Friedman

المساهمون: Paediatric Metabolic Diseases, ANS - Cellular & Molecular Mechanisms, Paediatrics, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Human Genetics and Genomics Advances, 3(3):100108. Cell Press

مصطلحات موضوعية: genome sequencing, genetic counseling, diagnostic rate, multidisciplinary approach, reanalysis, Molecular Medicine, exome sequencing, reinterpretation, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5476546684208e2c599da5b7842650e6
https://pubmed.ncbi.nlm.nih.gov/35599849

المؤلفون: Wyeth W. Wasserman, Jill Mwenifumbo, Helly Goez, Margaret L. McKinnon, John Andersen, Alison M. Elliott, Magda Price, Britt I. Drögemöller, Colin J. D. Ross, Ramona Salvarinova, Michelle Demos, Aisha Ghani, Graham Sinclair, Sylvia Stockler, Gabriella Horvath, Allison Matthews, Basmah Al-Jabri, Mary B. Connolly, Katherine Selby, Jessica J. Y. Lee, Clara D.M. van Karnebeek, Ingrid Blydt-Hansen, Hilary Vallance, Casper Shyr, Maja Tarailo-Graovac

المساهمون: Paediatric Metabolic Diseases, ANS - Cellular & Molecular Mechanisms, ANS - Compulsivity, Impulsivity & Attention, AGEM - Inborn errors of metabolism

المصدر: Genetics in medicine, 21(7), 1621-1628. Lippincott Williams and Wilkins

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Genetic counseling, Neurological examination, Disease, Cerebral palsy, 03 medical and health sciences, 0302 clinical medicine, Neuroimaging, Intellectual disability, molecular diagnosis, Medicine, Humans, Family history, Precision Medicine, intellectual disability (ID), Child, next-generation sequencing (NGS), Genetics (clinical), Genetic Association Studies, medicine.diagnostic_test, treatment, business.industry, cerebral palsy (CP), Cerebral Palsy, High-Throughput Nucleotide Sequencing, Genomics, Precision medicine, medicine.disease, 030104 developmental biology, Molecular Diagnostic Techniques, Female, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1173de8280348aa5f42f044dd074257
http://www.scopus.com/inward/record.url?scp=85058446440&partnerID=8YFLogxK

المؤلفون: Claudia Stollbrink-Peschgens, Patricia Klemm, Lambert P. van den Heuvel, Ingo Kurth, Clara D.M. van Karnebeek, Michael Mull, Eva Lausberg, C. Libioulle, Robert Meyer, Thomas Eggermann, Emile Van Schaftingen, Klaus Tenbrock, Daniela Choukair, Joseph P. Dewulf, François-Guillaume Debray, Joachim Weis, Kim Ohl, Norbert Wagner, Prasad T Oommen, Claudia Haase, Elsa Wiame, Dagmar Wieczorek, Arndt Borkhardt, Matthias Begemann, Sebastian Gießelmann, Anja Holz, Florian Kraft, Harald Surowy, Miriam Elbracht, Clemens Sommer, Ramona Salvarinova, Stephanie Demuth, Till Braunschweig, Martin Häusler

المساهمون: ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, UCL - SSS/DDUV/BCHM - Biochimie-Recherche métabolique, UCL - (SLuc) Service de biochimie médicale

المصدر: Journal of Clinical Investigation, 131
J Clin Invest
Journal of clinical investigation, 131(12):e143078. The American Society for Clinical Investigation
The Journal of clinical investigation, Vol. 131, no. 12, p. e143078 [1-13] (2021)
Journal of Clinical Investigation, 131, 12
Journal of Clinical Investigation, Vol. 131, no.12 (2021)

مصطلحات موضوعية: 0301 basic medicine, Microcephaly, Respiratory chain, Biology, Mitochondrion, Cell Line, Mitochondrial Proteins, Transcriptome, Mice, Open Reading Frames, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, 0302 clinical medicine, Loss of Function Mutation, Glycogen branching enzyme, medicine, Animals, Humans, Gene, Mice, Knockout, Genetics, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Glycogen Debranching Enzyme System, General Medicine, medicine.disease, Mitochondria, Open reading frame, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, 030220 oncology & carcinogenesis, biology.protein, Clinical Medicine, Signal transduction, Glycogen

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b42b3a2badbc1753fdacda6b9a67c28
https://doi.org/10.1172/jci143078

المؤلفون: J. P. Dewulf, Matthias Begemann, E. Van Schaftingen, L. van den Heuvel, C. Van Karnebeek, Thomas Eggermann, Joachim Weis, Prasad T Oommen, Claudia Haase, Daniela Choukair, François-Guillaume Debray, Anja Holz, M. Haeusler, Robert Meyer, S. Giesselmann, Eva Lausberg, Kim Ohl, Harald Surowy, Dagmar Wieczorek, C. Libioulle, Ramona Salvarinova, Stephanie Demuth, Elsa Wiame, Klaus Tenbrock, Florian Kraft, Miriam Elbracht, Till Braunschweig, Clemens Sommer, Michael Mull, Patricia Klemm, Ingo Kurth, Arndt Borkhardt

مصطلحات موضوعية: Signal peptide, Genetics, Transcriptome, Microcephaly, Open reading frame, biology, medicine, Respiratory chain, Glycogen branching enzyme, biology.protein, Signal transduction, medicine.disease, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3cfec6f9ac7ece9595863b6d7913faf0
https://doi.org/10.1101/2021.03.08.21252805

المؤلفون: C. Van Karnebeek, Gabriella Horvath, Ramona Salvarinova, A. Mobarak, Sylvia Stockler

المساهمون: Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Molecular Genetics and Metabolism Reports, 27
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100757-(2021)
Molecular Genetics and Metabolism Reports
Molecular genetics and metabolism reports, 27:100757. Elsevier BV

مصطلحات موضوعية: medicine.medical_specialty, Medicine (General), QH301-705.5, Propionic acidemia, Leucine intake, chemistry.chemical_compound, Endocrinology, All institutes and research themes of the Radboud University Medical Center, R5-920, Valine, Internal medicine, Genetics, medicine, Biology (General), Molecular Biology, Dietary management, chemistry.chemical_classification, Methionine, business.industry, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], medicine.disease, Amino acid, chemistry, Dietary Reference Intake, Isoleucine, Leucine, business, Research Paper

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f474a2ec53d2b78941d0f61ec012f313
http://hdl.handle.net/2066/245075

المؤلفون: Bibiche den Hollander (10931322), Anne Rasing (10931325), Merel A. Post (10931328), Willemijn M. Klein (8362860), Machteld M. Oud (2308225), Marion M. Brands (10931331), Lonneke de Boer (10931334), Udo F. H. Engelke (9099551), Peter van Essen (526629), Sabine A. Fuchs (5850101), Charlotte A. Haaxma (10846058), Brynjar O. Jensson (10931337), Leo A. J. Kluijtmans (10931340), Anna Lengyel (8824571), Klaske D. Lichtenbelt (10931343), Elsebet Østergaard (10931346), Gera Peters (10931349), Ramona Salvarinova (6716366), Marleen E. H. Simon (10670055), Kari Stefansson (26484), Ólafur Thorarensen (10931352), Ulrike Ulmen (10931355), Karlien L. M. Coene (10931358), Michèl A. Willemsen (10931361), Dirk J. Lefeber (190780), Clara D. M. van Karnebeek (6035903)

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, congenital disorder of glycosylation, glycosylation, sialic acid biosynthesis, N-acetyl-D-neuraminic acid, skeletal dysplasia, metabolic disease, intellectual developmental disorder/IDD, thrombocytopenia

Relation: https://figshare.com/articles/dataset/Data_Sheet_1_NANS-CDG_Delineation_of_the_Genetic_Biochemical_and_Clinical_Spectrum_docx/14742093

الاتاحة: https://doi.org/10.3389/fneur.2021.668640.s001

المؤلفون: Ramona Salvarinova-Zivkovic, Gabriella Horvath, J. Micallef, C. van Karnebeek, Sylvia Stockler-Ipsiroglu

المصدر: Neuropediatrics. 51(3)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Cholinergic crisis, 030105 genetics & heredity, Dantrolene, Rhabdomyolysis, 03 medical and health sciences, Norepinephrine, 0302 clinical medicine, Internal medicine, medicine, Humans, Global developmental delay, Child, Amino Acid Metabolism, Inborn Errors, Dystonia, business.industry, Muscle Relaxants, Central, General Medicine, medicine.disease, Hypotonia, Endocrinology, Inborn error of metabolism, Aromatic-L-Amino-Acid Decarboxylases, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d576dab743d878b991ebbe54b9e40e4
https://pubmed.ncbi.nlm.nih.gov/31935764

المؤلفون: Ashley Wilson, Erica Langley, Mariya Kozenko, Aizeddin A. Mhanni, Matthew A. Lines, Annette Feigenbaum, Sharan Goobie, Beth K. Potter, Valerie Austin, Andrea C. Yu, Suzanne Ratko, Saadet Mercimek-Andrews, Rebecca Sparkes, Natalya Karp, Hilary Vallance, Anthony Vandersteen, Alette Giezen, Kylie Tingley, Komudi Siriwardena, Melanie Napier, Kumanan Wilson, Julian Little, Chitra Prasad, Bruno Maranda, Brenda Wilson, Cheryl R. Greenberg, Yannis Trakadis, Grant A. Mitchell, Doug Coyle, Amy Pender, Nataliya Yuskiv, Sylvia Stockler-Ipsiroglu, Jagdeep S. Walia, Murray A. Potter, Alicia K. J. Chan, Michal Inbar-Feigenberg, Clara D.M. van Karnebeek, Michael Pugliese, Jonathan B. Kronick, Shailly Jain Ghai, Andreas Schulze, Catherine Brunel-Guitton, Laura Nagy, Monica Lamoureux, Michael T. Geraghty, Sarah Dyack, Ramona Salvarinova, Connie M Mohan, Jennifer MacKenzie, Pranesh Chakraborty, Daniela Buhas, John J. Mitchell, Michael Kowalski, Lesley Turner, Neal Sondheimer

المساهمون: University of Manitoba

المصدر: Orphanet Journal of Rare Diseases
Paediatrics Publications
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)

مصطلحات موضوعية: medicine.medical_specialty, Canada, Observational research, Psychological intervention, lcsh:Medicine, outcomes, Pediatrics, Inherited metabolic diseases, Cohort Studies, Database, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, Metabolic Diseases, Medicine, Humans, Pharmacology (medical), 030212 general & internal medicine, Disease management (health), Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Minimum Data Set, Data collection, business.industry, Registry science, Medical record, Data Collection, Research, lcsh:R, Data quality, methodology, General Medicine, trial, 3. Good health, Sustainability, Research Design, Family medicine, Aggregate data, Observational study, business, inborn-errors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56b186fb23745f7b8bbb2dbc024b0f98
https://pubmed.ncbi.nlm.nih.gov/32276663

المؤلفون: Barbara Cheng, Alette Giezen, Keiko Ueda, Sylvia Stockler-Ipsiroglu, Ramona Salvarinova, Rajavel Elango, Abrar Turki

المصدر: The Journal of Nutrition. 147:211-217

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Phenylalanine hydroxylase, Phenylketonurias, Egg protein, Medicine (miscellaneous), Phenylalanine, Urine, 030105 genetics & heredity, 03 medical and health sciences, Leucine, Internal medicine, medicine, Humans, Nutritional Physiological Phenomena, Resting energy expenditure, Amino Acids, Child, chemistry.chemical_classification, Carbon Isotopes, Nutrition and Dietetics, biology, Nutritional Requirements, Amino acid, Endocrinology, Biochemistry, chemistry, Isotope Labeling, biology.protein, Female, Dietary Proteins, Oxidation-Reduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acd4264e8b783b1fddc58d1e67c79a2d
https://doi.org/10.3945/jn.116.240218