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: 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

المؤلفون: A.T. van der Ploeg, C.H.A. Roelen, P.A. van Doorn, H. A. van Kooten, Esther Brusse, Margreet A E M Wagenmakers, N.A.M.E. van der Beek, Michelle Michels

المساهمون: Neurology, Cardiology, Pediatrics, Internal Medicine

المصدر: Neuromuscular Disorders, 31(2), 79-90. Elsevier Ltd.

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Glycogen accumulation, Adolescent, Cardiovascular risk factors, Population, Disease, Cohort Studies, 03 medical and health sciences, Young Adult, 0302 clinical medicine, SDG 3 - Good Health and Well-being, medicine, Humans, education, Child, Genetics (clinical), Aged, education.field_of_study, business.industry, Glycogen Storage Disease Type II, Infant, Newborn, Infant, Middle Aged, 030104 developmental biology, Neurology, Cardiovascular Diseases, Case-Control Studies, Child, Preschool, Pediatrics, Perinatology and Child Health, Etiology, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, Cohort study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::971d3839072f267c9aa426ac96071aa6Test
http://www.scopus.com/inward/record.url?scp=85098668931&partnerID=8YFLogxKTest

المؤلفون: Judith J.M. Jans, Mirian C. H. Janssen, Mirjam Langeveld, Nanda M. Verhoeven-Duif, Monique Williams, Martijn C. G. J. Brouwers, Janneke G. Langendonk, M. Estela Rubio-Gozalbo, Ans T. van der Ploeg, Peter M. van Hasselt, Hanneke A. Haijes, Margreet A E M Wagenmakers, Annet M. Bosch, Francjan J. van Spronsen, Margot F. Mulder, Femke Molema, Maaike de Vries

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM), Endocrinology, AGEM - Inborn errors of metabolism, ACS - Diabetes & metabolism, Paediatric Metabolic Diseases, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), Amsterdam Gastroenterology Endocrinology Metabolism, Pediatrics, Internal Medicine, 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

المصدر: Journal of Inherited Metabolic Disease, 43(3), 424-437. SPRINGER
Journal of inherited metabolic disease, 43(3), 424-437. Springer Netherlands
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 43(3), 424-437. Springer Netherlands
Journal of Inherited Metabolic Disease, 43, 424-437
Haijes, H A, Molema, F, Langeveld, M, Janssen, M C, Bosch, A M, van Spronsen, F, 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, Langendonk, J G, Williams, M & van Hasselt, P M 2020, ' Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia : What to aim, expect, and evaluate from newborn screening? ', Journal of Inherited Metabolic Disease, vol. 43, no. 3, pp. 424-437 . https://doi.org/10.1002/jimd.12193Test
Journal of Inherited Metabolic Disease, 43(3), 424-437. Wiley
Journal of Inherited Metabolic Disease, 43, 3, pp. 424-437

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Mitochondrial Diseases, organic acidurias, onset, PHENOTYPIC SPECTRUM, Methylmalonic acidemia, Kaplan-Meier Estimate, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Cognition, Neonatal Screening, NBS, AGE, Genetics, Medicine, Humans, Sibling, Propionic acidemia, MMA, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), 030304 developmental biology, Netherlands, Retrospective Studies, propionic acidemia, 0303 health sciences, Newborn screening, business.industry, newborn screening, Siblings, 030305 genetics & heredity, Clinical course, Infant, Newborn, food and beverages, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Retrospective cohort study, Original Articles, medicine.disease, methylmalonic acidemia, Isolated Methylmalonic Acidemia, Cohort, Original Article, Female, business, Methylmalonic Acid, PA

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fecd23127d479cf4cac69644921cd573Test
https://doi.org/10.1002/jimd.12193Test

المؤلفون: Joost van Rosmalen, Jasmin Barman-Aksözen, Debby Wensink, J. H. Paul Wilson, Janneke G. Langendonk, Margreet A E M Wagenmakers, Edith C. H. Friesema

المساهمون: Internal Medicine, Epidemiology

المصدر: JAMA Dermatology, 156(5), 570-575. American Medical Association
JAMA Dermatol

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Protoporphyria, Erythropoietic, Dermatology, Cohort Studies, Young Adult, 030207 dermatology & venereal diseases, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Quality of life, Interquartile range, Internal medicine, Humans, Medicine, Prospective Studies, Young adult, Prospective cohort study, Adverse effect, Aged, business.industry, Brief Report, Middle Aged, medicine.disease, Treatment Outcome, chemistry, alpha-MSH, 030220 oncology & carcinogenesis, Quality of Life, Sunlight, Female, Afamelanotide, Dermatologic Agents, Erythropoietic protoporphyria, business, Cohort study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35e925800d9ca5e7c25f99b2ccd0d087Test
https://doi.org/10.1001/jamadermatol.2020.0352Test

المؤلفون: Ans T. van der Ploeg, George J. G. Ruijter, W.W.M. Pim Pijnappel, Margreet A E M Wagenmakers, Mirjam Langeveld, Jan C. van der Meijden, Esmee Oussoren, Bianca Link

المصدر: Bone. 143

مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, Histology, Bone disease, MPS, Physiology, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis, 030209 endocrinology & metabolism, Avascular necrosis, Osteoarthritis, Bioinformatics, 03 medical and health sciences, Femoral head, 0302 clinical medicine, Skeletal disease, Mucolipidoses, Joint disease, medicine, Humans, Mucolipidosis, business.industry, Cartilage, Acetabulum, Mucopolysaccharidoses, medicine.disease, ML, 030104 developmental biology, medicine.anatomical_structure, Embryonic development, Quality of Life, Hip Joint, business, Dysostosis multiplex, Hip disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f041713ccfe4d07982f3562dfdc6b0eTest
https://doi.org/10.1016/j.bone.2020.115729Test

المؤلفون: Wim J. Sluiter, André P van Beek, Margreet A E M Wagenmakers, Ad R. M. M. Hermus, Bruce H. R. Wolffenbuttel, Thalijn L C Wolters, Antonius E. van Herwaarden, Gerrit van den Berg, Romana T. Netea-Maier, Anneke C. Muller Kobold, Mark R Postma, Alfons C.M. van den Bergh

المساهمون: Internal Medicine, Lifestyle Medicine (LM), Center for Liver, Digestive and Metabolic Diseases (CLDM), Guided Treatment in Optimal Selected Cancer Patients (GUTS)

المصدر: European Journal of Endocrinology, 180(1), 1-9. Bioscientifica Ltd
European Journal of Endocrinology, 180, 1-9
European Journal of Endocrinology, 180(1), 1-9. BIOSCIENTIFICA LTD
European Journal of Endocrinology, 180, 1, pp. 1-9

مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], THERAPY, 0302 clinical medicine, Endocrinology, Quality of life, QUALITY-OF-LIFE, CRITERIA, Postoperative Period, PREDICTORS, Craniotomy, Univariate analysis, General Medicine, Middle Aged, Combined Modality Therapy, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], IGF-I, GH, Survival Rate, 030220 oncology & carcinogenesis, Pituitary Gland, Female, GROWTH-HORMONE, Somatostatin, RADIOTHERAPY, Adenoma, Adult, medicine.medical_specialty, 030209 endocrinology & metabolism, Rare cancers Radboud Institute for Molecular Life Sciences [Radboudumc 9], 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Internal medicine, Acromegaly, MANAGEMENT, medicine, Humans, Pituitary Neoplasms, Survival rate, Retrospective Studies, business.industry, Retrospective cohort study, medicine.disease, Radiation therapy, Relative risk, CONSENSUS, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d59dd8329bc0a055cf4e379b17bb0329Test
https://doi.org/10.1530/eje-18-0166Test

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

المساهمون: Clinical Genetics, Pediatrics, Internal Medicine, Molecular Genetics

المصدر: Metabolites; Volume 11; Issue 1; Pages: 8
Metabolites, Vol 11, Iss 8, p 8 (2021)
Metabolites
Metabolites, 11(1):8, 1-40. Multidisciplinary Digital Publishing Institute (MDPI)
Metabolites, 11(1):8, 1-40. MDPI Multidisciplinary Digital Publishing Institute
Metabolites, 11(1)

مصطلحات موضوعية: 0301 basic medicine, Normalization (statistics), Mixed model, Endocrinology, Diabetes and Metabolism, Metabolite, lcsh:QR1-502, untargeted metabolomics, inborn errors of metabolism, normalization, internal standards, batch effects, Inborn errors of metabolism, Age and sex, 01 natural sciences, Biochemistry, Article, lcsh:Microbiology, 03 medical and health sciences, chemistry.chemical_compound, Batch effects, Covariate, Statistics, Molecular Biology, Mathematics, Untargeted metabolomics, 010401 analytical chemistry, Regression analysis, 0104 chemical sciences, Normalization, 030104 developmental biology, chemistry, Reference values, Internal standards

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09a3e9ed9627641e2d096991912fb833Test

المؤلفون: Margreet A E M Wagenmakers, Thalijn L C Wolters, Olga Husson, Rosalie Btm Sterenborg, Sean H.P.P. Roerink, Ad R. M. M. Hermus, Jan Smit, Romana T. Netea-Maier

المساهمون: Internal Medicine

المصدر: European Journal of Endocrinology, 182, 3, pp. 319-331
European Journal of Endocrinology, 182, 319-331
European Journal of Endocrinology, 182, 319-331. Bioscientifica Ltd

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Health Status, Health change, Population, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], 030209 endocrinology & metabolism, Rare cancers Radboud Institute for Molecular Life Sciences [Radboudumc 9], Healthcare improvement science Radboud Institute for Health Sciences [Radboudumc 18], 03 medical and health sciences, Young Adult, 0302 clinical medicine, Endocrinology, Postoperative Complications, Sex Factors, All institutes and research themes of the Radboud University Medical Center, Quality of life, Internal medicine, Surveys and Questionnaires, Acromegaly, Medicine, Humans, In patient, Prospective Studies, Young adult, Insulin-Like Growth Factor I, Prospective cohort study, education, Aged, education.field_of_study, business.industry, Human Growth Hormone, General Medicine, Middle Aged, medicine.disease, Hormones, Self Concept, Treatment Outcome, 030220 oncology & carcinogenesis, Quality of Life, Female, business, After treatment

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5c28b329b005745ac795c7d3a40106eTest
https://hdl.handle.net/2066/217592Test