المؤلفون: Gamida Ismailova, Margreet A. E. M. Wagenmakers, Esther Brusse, Ans T. van der Ploeg, Marein M. Favejee, Nadine A. M. E. van der Beek, Linda E. M. van den Berg

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Late onset Pompe disease, Exercise training program, WHO physical activity norm, Endurance, Muscle strength, Muscle function, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/aca2090aef6e484eb4b1aa989c6b3cdbTest

المؤلفون: Chiel J. deBode, Emma J. Dogterom, Antoinette V. J. Rozeboom, Janneke J. Langendonk, Eppo B. Wolvius, Ans T. van derPloeg, Esmée Oussoren, Margreet A. E. M. Wagenmakers

المصدر: JIMD Reports, Vol 63, Iss 6, Pp 621-629 (2022)

مصطلحات موضوعية: mucolipidosis type II, mucolipidosis type III, mucopolysaccharidosis, orofacial abnormalities, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/74fc62e0e28f40f5823defc4c6b5e92bTest

المؤلفون: Stephanie C. M. Nijmeijer, L. Ingeborg van den Born, Anneke J. A. Kievit, Karolina M. Stepien, Janneke Langendonk, Jan Pieter Marchal, Susanne Roosing, Frits A. Wijburg, Margreet A. E. M. Wagenmakers

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Mucopolysaccharidosis type III, Sanfilippo syndrome, Phenotypic spectrum, Neuropsychology assessment, Learning difficulties, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-019-1232-0Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/ca419429f40643b0b120161dc9fa59a5Test

المؤلفون: Michiel Bongaerts, Ramon Bonte, Serwet Demirdas, Edwin H. Jacobs, Esmee Oussoren, Ans T. van der Ploeg, Margreet A. E. M. Wagenmakers, Robert M. W. Hofstra, Henk J. Blom, Marcel J. T. Reinders, George J. G. Ruijter

المصدر: Metabolites, Vol 11, Iss 1, p 8 (2020)

مصطلحات موضوعية: untargeted metabolomics, inborn errors of metabolism, normalization, internal standards, batch effects, Microbiology, QR1-502

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2218-1989/11/1/8Test; https://doaj.org/toc/2218-1989Test

الوصول الحر: https://doaj.org/article/547c2b9da39144a7b76688fd06dbf092Test

المؤلفون: Janneke G. Langendonk, Margreet A E M Wagenmakers, Debby Wensink, J. H. Paul Wilson, Sandra Coenen

المساهمون: Internal Medicine, Gastroenterology & Hepatology

المصدر: Digestive and Liver Disease, 54(4), 515-520. Elsevier

مصطلحات موضوعية: Adult, medicine.medical_specialty, Cirrhosis, Protoporphyria, Erythropoietic, Population, Gastroenterology, Cohort Studies, Liver disease, Fibrosis, Internal medicine, medicine, Humans, Prospective Studies, education, education.field_of_study, Hepatology, medicine.diagnostic_test, business.industry, Liver Diseases, medicine.disease, Liver, Abdominal ultrasonography, Erythropoietic protoporphyria, Steatosis, business, Transient elastography

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b564a2f792a5523fd0ba06ee386b445Test
https://pure.eur.nl/en/publications/f564b70a-d7a4-463a-b86e-0c8f12a02d23Test

المؤلفون: Esmee Oussoren, Dimitris Rizopoulos, Martina Wilke, Serwet Demirdas, Ans T. van der Ploeg, Margreet A E M Wagenmakers, Sandra Pohl, Jan C. van der Meijden, Emma J. Dogterom, Nicole Muschol

المصدر: Genetics in Medicine. 23:2047-2056

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Natural course, business.industry, Mucolipidosis, Mucolipidosis type II, Lysosomal storage disorders, 030105 genetics & heredity, medicine.disease, GNPTG, Natural history, 03 medical and health sciences, 030104 developmental biology, Internal medicine, Medicine, Symptom onset, business, Genetics (clinical), Median survival

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b4a028b802815b13226e3a6819f484cTest
https://doi.org/10.1038/s41436-021-01244-4Test

المؤلفون: Hans R. Waterham, Ronald J.A. Wanders, Anneloor L.M.A. ten Asbroek, Mark J. Buijs, Margreet A E M Wagenmakers, Elise A. Ferreira, Camiel J. F. Boon, Marion M.M.G. Brands, Clara D.M. van Karnebeek, Arthur A.B. Bergen, C. Timmer, Riekelt H. Houtkooper, Berith M. Balfoort

المصدر: Molecular Genetics and Metabolism, 134(1-2), 96-116. ACADEMIC PRESS INC ELSEVIER SCIENCE

مصطلحات موضوعية: Ornithine, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Ornithine aminotransferase, Disease, Gyrate atrophy of the choroid and retina, Creatine, Biochemistry, Gastroenterology, Retina, chemistry.chemical_compound, Endocrinology, SDG 3 - Good Health and Well-being, Internal medicine, Genetics, medicine, Humans, Proline, Molecular Biology, Protein-restriction, Choroid, Arginine-restriction, business.industry, Pyridoxine, Gyrate atrophy, medicine.anatomical_structure, chemistry, Mutation, Therapy, business, Oat, Metabolism, Inborn Errors, medicine.drug

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::700b4ffcdc14dd09a820e43918c7f5bcTest
https://doi.org/10.1016/j.ymgme.2021.07.010Test

المؤلفون: Robert J. Desnick, Hetanshi Naik, Debby Wensink, Manisha Balwani, Margreet A E M Wagenmakers, Jessica Overbey, E. J. E. Van Broekhoven, K. Wheeden, J. H. P. Wilson, Janneke G. Langendonk

المساهمون: Internal Medicine

المصدر: Genetics in Medicine, 23(9), 1616-1623. Lippincott Williams & Wilkins

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Photodermatosis, Retrospective cohort study, medicine.disease, Prodrome, chemistry.chemical_compound, chemistry, Internal medicine, medicine, Afamelanotide, Patient-reported outcome, Erythropoietic protoporphyria, business, Genetics (clinical), Cohort study, Burning Pain

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ccd3c1f14916211c771f1f5d9db0e406Test
https://doi.org/10.1038/s41436-021-01176-zTest

المؤلفون: A.T. van der Ploeg, Annet M. Bosch, Femke Molema, Judith J.M. Jans, Mirian C. H. Janssen, Martijn C. G. J. Brouwers, Dimitris Rizopoulos, Sabine A. Fuchs, Hanneke A. Haijes, Nanda M. Verhoeven-Duif, M.C. de Vries, Monique Williams, F. J. van Spronsen, Janneke G. Langendonk, P.M. van Hasselt, M. E. Rubio-Gozalbo, Margot F. Mulder, Margreet A E M Wagenmakers

المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), Interne Geneeskunde, MUMC+: MA Endocrinologie (9), RS: Carim - V01 Vascular complications of diabetes and metabolic syndrome, Center for Liver, Digestive and Metabolic Diseases (CLDM), Pediatric surgery, Amsterdam Reproduction & Development (AR&D), Amsterdam Gastroenterology Endocrinology Metabolism, Pediatrics, Internal Medicine, Epidemiology, Paediatric Metabolic Diseases

المصدر: Clinical Nutrition, 40(5), 3622-3630. Churchill Livingstone
Clinical Nutrition, 40, 3622-3630
Clinical Nutrition, 40, 5, pp. 3622-3630
Clinical nutrition (Edinburgh, Scotland), 40(5), 3622-3630. Churchill Livingstone
Molema, F, Haijes, H A, Janssen, M C, Bosch, A M, van Spronsen, F J, Mulder, M F, Verhoeven-Duif, N M, Jans, J J M, van der Ploeg, A T, Wagenmakers, M A, Rubio-Gozalbo, M E, Brouwers, M C G J, de Vries, M C, Fuchs, S, Langendonk, J G, Rizopoulos, D, van Hasselt, P M & Williams, M 2021, ' High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome ', Clinical Nutrition, vol. 40, no. 5, pp. 3622-3630 . https://doi.org/10.1016/j.clnu.2020.12.027Test

مصطلحات موضوعية: 0301 basic medicine, Complications, Methylmalonic acidemia, CENTILES, Critical Care and Intensive Care Medicine, 0302 clinical medicine, Medicine, Propionic acidemia, Amino Acids, Child, Outcome, Aged, 80 and over, Nutrition and Dietetics, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Middle Aged, Dietary treatment, Treatment Outcome, HEAD CIRCUMFERENCE, Child, Preschool, Cohort, GROWTH, Dietary Proteins, ACIDURIAS, Adult, medicine.medical_specialty, Adolescent, 030209 endocrinology & metabolism, Reference Daily Intake, 03 medical and health sciences, Young Adult, Internal medicine, Diet, Protein-Restricted, MANAGEMENT, Humans, Vitamin B12, Medical prescription, Amino Acid Metabolism, Inborn Errors, Aged, Retrospective Studies, 030109 nutrition & dietetics, business.industry, MUTATIONS, Infant, Newborn, Infant, Retrospective cohort study, medicine.disease, Protein restriction, DIETARY PRACTICES, WEIGHT, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c7707b9fbf36a7f8b9b343709220c73Test
https://doi.org/10.1016/j.clnu.2020.12.027Test

المؤلفون: Margreet A E M Wagenmakers, Debby Wensink, Janneke G. Langendonk

المساهمون: Internal Medicine

المصدر: Expert Review of Clinical Pharmacology, 14(2), 151-160. Taylor & Francis Ltd

مصطلحات موضوعية: medicine.medical_specialty, Melanocyte-stimulating hormone, Protoporphyria, Erythropoietic, Nausea, Pain, 030226 pharmacology & pharmacy, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, Animals, Humans, Pharmacology (medical), General Pharmacology, Toxicology and Pharmaceutics, Adverse effect, business.industry, General Medicine, medicine.disease, Dermatology, Clinical trial, Porphyria, chemistry, alpha-MSH, 030220 oncology & carcinogenesis, Quality of Life, Sunlight, Hormone analog, Afamelanotide, Erythropoietic protoporphyria, Dermatologic Agents, medicine.symptom, business, Dermatitis, Phototoxic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85baa438e89fb3690d36915a63a20228Test
https://doi.org/10.1080/17512433.2021.1879638Test