المؤلفون: Nathalie M. Vandevelde, Pieter Vermeersch, Katrien M. J. Devreese, Marie-Françoise Vincent, Béatrice Gulbis, François Eyskens, François Boemer, André Gothot, Viviane O. Van Hoof, Carolien Bonroy, Hedwig Stepman, Geert A. Martens, Xavier Bossuyt, Laurence Roosens, Julie Smet, Hilde Laeremans, Ilse Weets, Jean-Marc Minon, Kris Vernelen, Wim Coucke, Advisory Board of the Action 1 of the Belgian National Plan for Rare Diseases

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-16 (2021)

مصطلحات موضوعية: Rare diseases, Clinical pathology, Financing, Reference laboratories, Reimbursement codes, Expertise, Medicine

وصف الملف: electronic resource

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

الوصول الحر: https://doaj.org/article/2dc4256c7b404443ba1a0495f3f1c794Test

المؤلفون: Rim Rzem, Younes Achouri, Etienne Marbaix, Olivier Schakman, Elsa Wiame, Sandrine Marie, Philippe Gailly, Marie-Françoise Vincent, Maria Veiga-da-Cunha, Emile Van Schaftingen

المصدر: PLoS ONE, Vol 10, Iss 3, p e0119540 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/ab322ed67c7840d9a816df083068a298Test

المؤلفون: Nicolas Cecere, Corinne Hubinont, Arnauld Kabulu Kadingi, Marie-Françoise Vincent, Peter Van den Bergh, Anna Onnela, Philippe Hantson

المصدر: Case Reports in Obstetrics and Gynecology, Vol 2013 (2013)

مصطلحات موضوعية: Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2090-6684Test; https://doaj.org/toc/2090-6692Test

الوصول الحر: https://doaj.org/article/cdcd997a27944fcfa0889ff508db3162Test

المؤلفون: Stefanie Vandevijvere, Wim Coucke, Jean Vanderpas, Caroline Trumpff, Maarten Fauvart, Ann Meulemans, Sandrine Marie, Marie-Françoise Vincent, Roland Schoos, François Boemer, Timothy Vanwynsberghe, Eddy Philips, François Eyskens, Brigitte Wuyts, Valbona Selimaj, Bart Van Overmeire, Christine Kirkpatrick, Herman Van Oyen, Rodrigo Moreno-Reyes

المصدر: PLoS ONE, Vol 7, Iss 10, p e47770 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23112844/?tool=EBITest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/0afcf7c5986f4666bf26c0bfb35da2e4Test

المؤلفون: Christophe Angelo, Marie-Françoise Vincent, Mina Komuta, Philippe Hantson, Nicole Straetmans, Edwige Boulet

المصدر: Case Reports in Hematology, Vol 2020 (2020)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

العلاقة: http://dx.doi.org/10.1155/2020/3136074Test; https://doaj.org/toc/2090-6560Test; https://doaj.org/toc/2090-6579Test; https://doaj.org/article/a24ed0c1c2a64c2f8b7c7f8b1b1b2618Test

الإتاحة: https://doi.org/10.1155/2020/3136074Test
https://doaj.org/article/a24ed0c1c2a64c2f8b7c7f8b1b1b2618Test

المؤلفون: Marie-Cécile Nassogne, Imen Dorboz, Dana Dumitriu, Jean-François Benoist, Agnès Bourillon, Raphaël Helaers, Monique Elmaleh-Bergès, Apolline Imbard, Odile Boespflug-Tanguy, Marie-Françoise Vincent, Emile Van Schaftingen, Joseph P. Dewulf, Manuel Schiff, Alisha Malla, Avner Schlessinger, Ron A. Wevers, Malgorzata Rak, Florence Renaldo, Elsa Wiame

المصدر: Annals of Neurology. 85:385-395

مصطلحات موضوعية: 0301 basic medicine, Sanger sequencing, Mutation, Chemistry, medicine.disease_cause, medicine.disease, Molecular biology, Reverse transcriptase, 3. Good health, Leukoencephalopathy, 03 medical and health sciences, symbols.namesake, 030104 developmental biology, 0302 clinical medicine, Cerebrospinal fluid, Neurology, symbols, medicine, Missense mutation, Choroid plexus, Neurology (clinical), 030217 neurology & neurosurgery, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f95dd7d5c884b463f765a315b275704dTest
https://doi.org/10.1002/ana.25412Test

المؤلفون: Nathalie M. Vandevelde (10161891), Pieter Vermeersch (4747938), Katrien M. J. Devreese (10161894), Marie-Françoise Vincent (301884), Béatrice Gulbis (10161897), François Eyskens (301890), François Boemer (301887), André Gothot (293096), Viviane O. Van Hoof (10161900), Carolien Bonroy (6420452), Hedwig Stepman (10161903), Geert A. Martens (10161906), Xavier Bossuyt (564860), Laurence Roosens (2295328), Julie Smet (524213), Hilde Laeremans (10161909), Ilse Weets (3373913), Jean-Marc Minon (396990), Kris Vernelen (5706500), Wim Coucke (301878)

مصطلحات موضوعية: Medicine, Sociology, Science Policy, Biological Sciences not elsewhere classified, Rare diseases, Clinical pathology, Financing, Reference laboratories, Reimbursement codes, Expertise

العلاقة: https://figshare.com/articles/figure/Additional_file_1_of_Belgian_rare_diseases_plan_in_clinical_pathology_identification_of_key_biochemical_diagnostic_tests_and_establishment_of_reference_laboratories_and_financing_conditions/14053554Test

الإتاحة: https://doi.org/10.6084/m9.figshare.14053554.v1Test

المؤلفون: Francis Ramond, Irène Ceballos, Paul Kuentz, Sandrine Marie, Kareen Billiemaz, Bénédicte Héron, Marie-Françoise Vincent, Marlène Rio, Monique Piraud, Anne-Sophie Denommé-Pichon, Renaud Touraine, Apolline Imbard

المصدر: Journal of inherited metabolic diseaseREFERENCES. 43(6)

مصطلحات موضوعية: Hydroxymethyl and Formyl Transferases, Male, medicine.medical_specialty, Cyclohydrolase activity, Bioinformatics, Congenital Abnormalities, Epilepsy, Multienzyme Complexes, Intellectual Disability, Genetics, medicine, Humans, Bifunctional Purine Biosynthesis Protein PURH, Child, Genetics (clinical), ATIC DEFICIENCY, business.industry, Infant, Newborn, Infant, medicine.disease, Aminoimidazole Carboxamide, Phenotype, Nucleotide Deaminases, Child, Preschool, Mutation, Medical genetics, Female, Ribonucleosides, Nephrocalcinosis, business, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::199e8b68384227c6da3dfd704f873251Test
https://pubmed.ncbi.nlm.nih.gov/32557644Test

المؤلفون: Marie-Françoise Vincent, Nicole Straetmans, Mina Komuta, Philippe Hantson, Christophe Angelo, Edwige Boulet

المساهمون: UCL - SSS/DDUV - Institut de Duve, UCL - SSS/IREC/GAEN - Pôle d'Hépato-gastro-entérologie, UCL - SSS/IREC/MEDA - Pôle de médecine aiguë, UCL - SSS/IREC/SLUC - Pôle St.-Luc, UCL - (SLuc) Service de soins intensifs, UCL - (SLuc) Service de biochimie médicale, UCL - (SLuc) Service d'anatomie pathologique, UCL - (SLuc) Service d'hématologie

المصدر: Case reports in hematology, Vol. 2020, p. 3136074 [1-4] (2020)
Case Reports in Hematology, Vol 2020 (2020)
Case Reports in Hematology

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Acute leukemia, Bone marrow transplantation, business.industry, Myeloid leukemia, Induction chemotherapy, Case Report, Hyperammonemia, General Medicine, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, medicine, Etiology, In patient, Diseases of the blood and blood-forming organs, RC633-647.5, Complication, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8466b9779c064ee44dcd200970b1c64Test
https://hdl.handle.net/2078.1/241904Test

المؤلفون: François Jouret, Pierre J. Courtoy, Virginie Janssens, Corinne Antignac, Seppo Vainio, Christophe E. Pierreux, Rikke Nielsen, Nathalie Nevo, Héloïse P. Gaide Chevronnay, Erik Ilsø Christensen, Sandrine Marie, Marie-Françoise Vincent, Patrick Van Der Smissen

المصدر: Janssens, V, Gaide Chevronnay, H P, Marie, S, Vincent, M-F, Van Der Smissen, P, Nevo, N, Vainio, S, Nielsen, R, Christensen, E I, Jouret, F, Antignac, C, Pierreux, C E & Courtoy, P J 2019, ' Protection of Cystinotic Mice by Kidney-Specific Megalin Ablation Supports an Endocytosis-Based Mechanism for Nephropathic Cystinosis Progression ', Journal of the American Society of Nephrology : JASN, vol. 30, no. 11, pp. 2177-2190 . https://doi.org/10.1681/ASN.2019040371Test
J Am Soc Nephrol

مصطلحات موضوعية: Cystinosis, Cystine, Kidney Tubules, Proximal, chemistry.chemical_compound, Mice, Nephropathic Cystinosis, Wnt4 Protein, Lysosomal storage disease, medicine, Animals, endocytosis, pathophysiology, Kidney, urogenital system, General Medicine, LRP2, medicine.disease, Endocytosis, Mice, Inbred C57BL, cystinosis, Low Density Lipoprotein Receptor-Related Protein-2, medicine.anatomical_structure, Basic Research, chemistry, Cystinosin, Nephrology, Cancer research, Disease Progression, renal proximal tubule cell, Cysteamine, megalin, Signal Transduction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb94f3356386729d3e45a1c5fb101451Test
https://pure.au.dk/portal/da/publications/protection-of-cystinotic-mice-by-kidneyspecific-megalin-ablation-supports-an-endocytosisbased-mechanism-for-nephropathic-cystinosis-progressionTest(79740452-96a0-430e-9a37-73aa7c55f5a4).html