المؤلفون: Eveline J Langereis, Tom Wagemans, Wim Kulik, Dirk J Lefeber, Henk van Lenthe, Esmee Oussoren, Ans T van der Ploeg, George J Ruijter, Ron A Wevers, Frits A Wijburg, Naomi van Vlies

المصدر: PLoS ONE, Vol 10, Iss 9, p e0138622 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4583541?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/e5656ed7adc14525997a2963e79025fa

المؤلفون: Gé-Ann Kuiper, Olga L. M. Meijer, Eveline J. Langereis, Frits A. Wijburg

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-13 (2018)

مصطلحات موضوعية: Mucopolysaccharidosis type I, Mucopolysaccharidosis type III, Diagnostic delay, Awareness, Rare diseases, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-017-0733-y; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/ebaf4916cd344ccea5f26806653b9f09

المؤلفون: Eveline J. Langereis, Suzanne W J Terheggen-Lagro, Simone Hashimoto, Marielle W. Pijnenburg, Coen R Lap, Linda J T M van der Sande, Michiel A. G. E. Bannier, Caroline L H Brackel, Marlies A van Houten, Emilie P. Buddingh

المساهمون: MUMC+: MA Medische Staf Kindergeneeskunde (9), Kindergeneeskunde, RS: FHML non-thematic output, General Paediatrics, Pulmonology, Paediatric Pulmonology, AII - Inflammatory diseases, Pediatrics

المصدر: Pediatric Pulmonology, 56(8), 2495-2502. Wiley
Pediatric Pulmonology
Pediatric pulmonology, 56(8), 2495-2502. Wiley-Liss Inc.
Pediatric Pulmonology, 56(8):1, 2495-2502. Wiley-Liss Inc.
Pediatric Pulmonology, 56(8), 2495-2502. WILEY

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Adult, 2019-20 coronavirus outbreak, Pediatrics, medicine.medical_specialty, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Early detection, CHILDREN, Post-Acute COVID-19 Syndrome, Medicine, Humans, pneumonia, infections, Child, Fatigue, Response rate (survey), business.industry, Daily function, SARS-CoV-2, COVID-19, Effective management, Multisystem disease, Original Article: Covid 19, Dyspnea, TB, Pediatrics, Perinatology and Child Health, business, Pediatric population, viral

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cd86fec075380183120186cfa963b9e
https://cris.maastrichtuniversity.nl/en/publications/2883a0f1-0cce-4a1d-a39b-2c6375642ca5

المؤلفون: Rossella Parini, Moyo C. Kruyt, Neil Oxborrow, Amy Robinson, Eveline J. Langereis, Deborah M. Eastwood, Simon Jones, Gé-Ann Kuiper, Johanna H. van der Lee, William G. Mackenzie, Sandra Breyer, Frits A. Wijburg, Klane K. White, Peter M. van Hasselt, René M. Castelein, Elke Schubert Hjalmarsson, Christophe Garin, Vladimir Kenis, Marco Carbone, Nathalie Guffon, Paul J. Orchard, Pauline Hensman

المساهمون: General Paediatrics, Paediatric Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, APH - Quality of Care, APH - Methodology, AGEM - Inborn errors of metabolism, ARD - Amsterdam Reproduction and Development

المصدر: Orphanet journal of rare diseases, 14(1). BioMed Central
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 14(1). BioMed Central
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-16 (2019)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Consensus, (3–10): Mucopolysaccharidosis type I, Thoracolumbar kyphosis, Mucopolysaccharidosis I, Mucopolysaccharidosis type I [(3-10)], Kyphosis, lcsh:Medicine, 030105 genetics & heredity, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Quality of life, Modified Delphi method, International consensus meeting, Humans, Medicine, Enzyme Replacement Therapy, Genetics(clinical), Pharmacology (medical), (3-10): Mucopolysaccharidosis type I, Genetics (clinical), Clinical practice guideline, Literature review, business.industry, Research, lcsh:R, Hematopoietic Stem Cell Transplantation, General Medicine, Guideline, Enzyme replacement therapy, Residual disease, medicine.disease, Brace, Transplantation, Orthopedic surgery, Physical therapy, Surgery, Dysostosis multiplex, business, Kyphotic angle, 030217 neurology & neurosurgery

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::430aba4cabd0cdd7a8fe01538e9ff4db
https://pure.amc.nl/en/publications/treatment-of-thoracolumbar-kyphosis-in-patients-with-mucopolysaccharidosis-type-i-results-of-an-international-consensus-procedure(60904828-f42b-49eb-9bee-e83ca4d1eb70).html

المؤلفون: Paula M. Kelly, Paul J. Orchard, Catherine Breen, Tyler G. Ketterl, Klane K. White, Weston P. Miller, Jim Kennedy, Ralph J. B. Sakkers, Troy C. Lund, Anne O'Meara, Olga C. Knaven, Simon Jones, Jean Mercer, Rick R. van Rijn, Matthijs M. den Os, Eveline J. Langereis, Frits A. Wijburg

المساهمون: Paediatric Metabolic Diseases, Other Research, Radiology and Nuclear Medicine, Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Journal of bone and joint surgery. American volume, 98A(5), 386-395. Journal of Bone and Joint Surgery Inc.

مصطلحات موضوعية: Adult, Male, Pelvic tilt, medicine.medical_specialty, Adolescent, Mucopolysaccharidosis I, Young Adult, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Hip Dislocation, Humans, Medicine, Single-Blind Method, Orthopedics and Sports Medicine, Child, Hurler syndrome, Retrospective Studies, Observer Variation, Hip dysplasia, 030222 orthopedics, Models, Statistical, business.industry, Coxa valga, Hematopoietic Stem Cell Transplantation, Reproducibility of Results, General Medicine, Enzyme replacement therapy, Prognosis, medicine.disease, Acetabular dysplasia, Surgery, Radiography, Treatment Outcome, Child, Preschool, Disease Progression, Female, Radiology, medicine.symptom, business, 030217 neurology & neurosurgery, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e4fb289acc1386552a3650c33f41562
https://doi.org/10.2106/jbjs.o.00601

المؤلفون: Sandra Breyer, William G. Mackenzie, René M. Castelein, Christophe Garin, Rick R. van Rijn, Frits A. Wijburg, Pauline Hensman, Klane K. White, Neil Oxborrow, Paul J. Orchard, Nathalie Guffon, Marco Carbone, Deborah M. Eastwood, Gé-Ann Kuiper, Eveline J. Langereis, Stephanie C. M. Nijmeijer, Amy Robinson, Peter M. van Hasselt, Simon Jones, Johanna H. van der Lee, Vladimir Kenis, Elke Schubert Hjalmarsson, Moyo C. Kruyt, Rossella Parini

المصدر: Molecular Genetics and Metabolism. 126:S88-S89

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Cobb angle, business.industry, Endocrinology, Diabetes and Metabolism, Kyphosis, Guideline, 030105 genetics & heredity, medicine.disease, Biochemistry, Spondylolisthesis, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, Endocrinology, Thoracolumbar kyphosis, Orthopedic surgery, Genetics, medicine, Physical therapy, business, Molecular Biology, 030217 neurology & neurosurgery, Natural history study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::803effa1ca01246c3665931394dd050d
https://doi.org/10.1016/j.ymgme.2018.12.219

المؤلفون: Eveline J. Langereis, Frits A. Wijburg, Naomi van Vlies

المصدر: Expert Opinion on Orphan Drugs. 3:307-320

مصطلحات موضوعية: business.industry, Health Policy, medicine.medical_treatment, Treatment options, Hematopoietic stem cell transplantation, Enzyme replacement therapy, Disease, medicine.disease, Bioinformatics, Mucopolysaccharidosis type I, Immunology, medicine, Lysosomal storage disease, Pharmacology (medical), Diagnosis Classification, business, Pharmacology, Toxicology and Pharmaceutics (miscellaneous), Disease burden

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49a9db7ca81499575219a67c95ae2d38
https://doi.org/10.1517/21678707.2015.1016908

المؤلفون: Heather J. Church, Brian W. Bigger, Wim Kulik, Lena Schreider, Frits A. Wijburg, Ronald B. Geskus, Henk van Lenthe, Carla E. M. Hollak, Tom Wagemans, Jean Mercer, Karen Tylee, Simon Jones, Eveline J. Langereis, Naomi van Vlies

المساهمون: Other departments, Laboratory Genetic Metabolic Diseases, AII - Amsterdam institute for Infection and Immunity, APH - Amsterdam Public Health, Epidemiology and Data Science, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Endocrinology, Paediatric Metabolic Diseases

المصدر: Molecular genetics and metabolism, 114(2), 129-137. Academic Press Inc.

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Mucopolysaccharidosis I, Endocrinology, Diabetes and Metabolism, Urinary system, Dermatan Sulfate, Disaccharides, Biochemistry, Iduronidase, Young Adult, chemistry.chemical_compound, Mucopolysaccharidosis type I, Endocrinology, Internal medicine, Genetics, medicine, Humans, Enzyme Replacement Therapy, Child, Molecular Biology, biology, Chemistry, Infant, Newborn, Thrombin, Antibody titer, Infant, Heparin, Heparan sulfate, Enzyme replacement therapy, Recombinant Proteins, Child, Preschool, Immunoglobulin G, Heparin Cofactor II, biology.protein, Biomarker (medicine), Female, Heparitin Sulfate, Antibody, Biomarkers, Follow-Up Studies, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5410ff2cf5a2eca73582400a535372e4
https://doi.org/10.1016/j.ymgme.2014.10.012

المؤلفون: Frits A. Wijburg, Jaap Jan Boelens, Eveline J. Langereis, Gé-Ann Kuiper, Peter M. van Hasselt

المساهمون: Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D), Paediatric Metabolic Diseases, General Paediatrics

المصدر: Molecular Genetics and Metabolism, 122(1-2), 86–91. Academic Press Inc.
Molecular genetics and metabolism, 122(1-2), 86-91. Academic Press Inc.

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Cell Transplantation, Endocrinology, Diabetes and Metabolism, Mucopolysaccharidosis I, Dermatan Sulfate, Urine, Biology, Gastroenterology, Biochemistry, Dermatan sulfate, 03 medical and health sciences, Mucopolysaccharidosis type I, chemistry.chemical_compound, Endocrinology, Median follow-up, Tandem Mass Spectrometry, Internal medicine, medicine, Residual disease activity, Genetics, Humans, Child, Molecular Biology, Hematopoietic cell transplantation, Hematopoietic Stem Cell Transplantation, Infant, Newborn, Infant, Heparan sulfate, Diabetes and Metabolism, Transplantation, 030104 developmental biology, chemistry, Child, Preschool, Immunology, Biomarker (medicine), Female, Heparitin Sulfate, Biomarkers, Chromatography, Liquid

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d8ced3776a8051800bd7db86a1a9180
https://pubmed.ncbi.nlm.nih.gov/28684085

المؤلفون: Yu-ji Li, Eveline J. Langereis, I. Jung Feng, Klane K. White

المصدر: Molecular Genetics and Metabolism. 126:S152

مصطلحات موضوعية: Morquio syndrome, Pediatrics, medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, Radiography, medicine.disease, Biochemistry, Endocrinology, Genetics, medicine, business, Molecular Biology, Natural history study, Hip disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2709cf85de10be4c1da99e57b58a264d
https://doi.org/10.1016/j.ymgme.2018.12.393