المؤلفون: Line Gutte Borgwardt, Ferdinando Ceravolo, Giulia Zardi, Andrea Ballabeni, Allan Meldgaard Lund

المصدر: JIMD Reports, Vol 64, Iss 2, Pp 187-198 (2023)

مصطلحات موضوعية: alpha‐mannosidosis, antidrug antibody, infusion‐related reactions, MAN2B1, velmanase alfa, 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/70f1d07fdc024aabb477b895d1046324

المؤلفون: Raja Majid Afzal, Allan Meldgaard Lund, Flemming Skovby

المصدر: Molecular Genetics and Metabolism Reports, Vol 15, Iss , Pp 6-10 (2018)

مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426917301507; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/f171be3b1a3046459428075c8e108ff5

المؤلفون: Allan Meldgaard Lund, Flemming Wibrand, Kristin Skogstrand, Marie Bækvad-Hansen, Niels Gregersen, Brage Storstein Andresen, David M. Hougaard, Morten Dunø, Rikke Katrine Jentoft Olsen

المصدر: International Journal of Neonatal Screening, Vol 7, Iss 3, p 50 (2021)

مصطلحات موضوعية: next generation sequencing, newborn screening, neonatal screening, first-tier test, second-tier test, tandem mass spectrometry, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/7/3/50; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/e2d3d02166b1482183928729f9ccf7df

المؤلفون: Emelie Curovic Rotbain, Dennis Lund Hansen, Ove Schaffalitzky de Muckadell, Flemming Wibrand, Allan Meldgaard Lund, Henrik Frederiksen

المصدر: PLoS ONE, Vol 12, Iss 11, p e0186674 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5685614?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/f6e6fceefc3744e6bc64a293f4114b42

المؤلفون: Line Gutte Borgwardt, Ferdinando Ceravolo, Giulia Zardi, Andrea Ballabeni, Allan Meldgaard Lund

المصدر: JIMD Reports. 64:187-198

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Internal Medicine, Biochemistry, Genetics and Molecular Biology (miscellaneous)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0181a3118e9fb18e5f5986062ea78760
https://doi.org/10.1002/jmd2.12349

المؤلفون: Maja Risager Nielsen, Christine Jørgensen, Kirsten Ahring, Allan Meldgaard Lund, Mette Cathrine Ørngreen

المصدر: Journal of Inherited Metabolic Disease.

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::05dcb2f094cb3f965007df679c9cdc08
https://doi.org/10.1002/jimd.12600

المؤلفون: Emilie Erbs, Claus Lohman Brasen, Allan Meldgaard Lund, Maria Rasmussen

المصدر: European Journal of Medical Genetics. 66:104698

مصطلحات موضوعية: Genetics, General Medicine, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::b7cdc72a83c8bbc83a15bbcadad2b4eb
https://doi.org/10.1016/j.ejmg.2023.104698

المؤلفون: Heard, Jean-Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, van Lingen, Corine, Scarpa, Maurizio, Gert, Matthijs, Marie-Cécile, Nassogne, François-Guillaume, Debray, Dominique, Roland, Teodora, Chamova, Viktor, Kozich, Jesina, Pavel, Martin, Zenker, Christina, Lampe, Anihb Martin Das, Julia, Hennermann, Stefan, Kölker, Natalie, Weinhold, Klaus, Mohnike, Sarah, Gruenert, Allan Meldgaard Lund, Montserrat, Morales-Conejo, Mireia Del Toro-Riera, Luis, Aldámiz-Echevarría, Maria-Teresa, Garcia-Silva, Manuel, Schiff, Laurent, Gouya, Pascale de Lonlay, Nadia, Belmatoug, Dominique, P Germain, Aline, Cano, Dries, Dobbelaere, Simon, Jones, Charlotte, Dawson, Patrick, Deegan, Saikat, Santra, Suresh, Vijay, Danijela Petkovic Ramadza, Ivo, Barić, Tamara, Žigman, György, Pflieger, Katalin, Szakszon, Rita, Kaposta, Serena, Gasperini, Alberto, Burlina, Giancarlo, Parenti, Pietro, Strisciuglio, Giovanni, Ceccarini, Antonio, Federico, Simonati, Alessandro, Birute, Tumiene, Hidde, Huidekoper, Francian van Spronsen, Annet, Bosch, Maria-Estela, Rubio-Gozalbo, Gepke, Visser, Trine, Tangeraas, Aasne, Aarsand, Beata, Kieć-Wilk, Ana-Maria Simões Mendes Gaspar, Dulce, Quelhas, Elisa, Leao-Teles, Olga, Azevedo, Esmeralda-Maria Ferreira Rodriges Silva, Luísa-Maria de Abreu Freire Diogo Matos, Esmeralda, Martins, Svetlana, Lajic, Niklas, Darin, Urh, Groselj, Mojca-Zerjav, Tansek

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie pédiatrique, Pediatrics, RS: GROW - R4 - Reproductive and Perinatal Medicine, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), Paediatric Metabolic Diseases, AGEM - Inborn errors of metabolism

المصدر: Orphanet journal of rare diseases, London : BMC, 2020, vol. 15, no. 1, art. no. 3, p. [1-7]
Orphanet journal of rare diseases, Vol. 15, no. 1, p. 3 [1-10] (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Orphanet Journal of Rare Diseases, 15(1):3. BioMed Central Ltd.
Orphanet Journal of Rare Diseases, 15(1):3. BioMed Central Ltd
Orphanet journal of rare diseases, 15(1):3. BioMed Central

مصطلحات موضوعية: Orphan Drug Production, lcsh:Medicine, Disease, Research & Experimental Medicine, Hereditary Metabolic Diseases, European Reference Network, Surveys and Questionnaires, Health care, Agency (sociology), Access to treatment, Inborn errors of metabolism, Orphan medicinal product, Medicine, Genetics(clinical), Pharmacology (medical), Drug Approval, Genetics (clinical), media_common, Genetics & Heredity, General Medicine, Product (business), Medicine, Research & Experimental, Life Sciences & Biomedicine, medicine.medical_specialty, media_common.quotation_subject, Marketing authorization, Unmet needs, access to treatment, hereditary metabolic diseases, inborn errors of metabolism, orphan medicinal product, Rare Diseases, Metabolic Diseases, Excellence, DRUGS, Humans, Medical prescription, MetabERN collaboration group, Science & Technology, business.industry, Research, lcsh:R, Family medicine, business, Metabolism, Inborn Errors, 1199 Other Medical and Health Sciences

وصف الملف: application/pdf; Electronic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4bc53a73c6dd8801f1b116f34a52535
https://doi.org/10.1186/s13023-019-1280-5

المؤلفون: Julie, Leganger, Marie-Louise Kulas, Søborg, Stense, Farholt, Allan Meldgaard, Lund, Jacob, Rosenberg, Jakob, Burcharth

المصدر: Ugeskrift for laeger. 178(17)

مصطلحات موضوعية: Diagnosis, Differential, Joint Instability, Humans, Ehlers-Danlos Syndrome, Skin

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::b31d0407d3db33e4f3f2e43c8cb2f232
https://pubmed.ncbi.nlm.nih.gov/27136954

المؤلفون: Julie Leganger, Marie-Louise Kulas Søborg, Stense Farholt, Allan Meldgaard Lund, Jacob Rosenberg, Jakob Burcharth

المصدر: Leganger, J, Søborg, M-L K, Farholt, S, Lund, A M, Rosenberg, J & Burcharth, J 2016, ' Ehlers-Danlos syndrom ', Ugeskrift for Laeger, bind 178, nr. 17 .
Capital Region of Denmark

مصطلحات موضوعية: Journal Article, English Abstract

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3921c0e1706d2a7c8417f9ad22de8017
https://pure.au.dk/portal/da/publications/ehlersdanlos-syndrom(24c6e91b-8a54-4cfd-b977-13fadbf78ec4).html