المؤلفون: Tarekegn Geberhiwot, Melissa Wasserstein, Subadra Wanninayake, Shaun Christopher Bolton, Andrea Dardis, Anna Lehman, Olivier Lidove, Charlotte Dawson, Roberto Giugliani, Jackie Imrie, Justin Hopkin, James Green, Daniel de Vicente Corbeira, Shyam Madathil, Eugen Mengel, Fatih Ezgü, Magali Pettazzoni, Barbara Sjouke, Carla Hollak, Marie T. Vanier, Margaret McGovern, Edward Schuchman

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-28 (2023)

مصطلحات موضوعية: Acid sphingomyelinase deficiency, ASMD, Niemann–Pick disease, Niemann–Pick disease-a,b,a/b, Guidelines, Diagnosis, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/3b60746a318b45afbe6b8545bdc098d5

المؤلفون: Eline C. B. Eskes, Cathrien R. L. Beishuizen, Eleonore M. Corazolla, Tessa van Middelaar, Marion M. M. G. Brands, Hanka Dekker, Erica van de Mheen, Mirjam Langeveld, Carla E. M. Hollak, Barbara Sjouke

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: Lysosomal storage diseases, Gaucher disease type 1, Fabry disease, Mucopolysaccharidosis type III, Gene therapy, Qualitative research, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/9d1b47e77b6549928fc8f4ca8c8e1114

المؤلفون: Frederick J. Raal, Barbara Sjouke, G. Kees Hovingh, Barton F. Isaac

المصدر: Data in Brief, Vol 7, Iss , Pp 1458-1462 (2016)

مصطلحات موضوعية: Computer applications to medicine. Medical informatics, R858-859.7, Science (General), Q1-390

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352340916302189; https://doaj.org/toc/2352-3409

URL الوصول: https://doaj.org/article/89a0244b074c41bdbde49b89147fb2f9

المؤلفون: Gilles Lambert, Barbara Sjouke, Benjamin Choque, John J.P. Kastelein, G. Kees Hovingh

المصدر: Journal of Lipid Research, Vol 53, Iss 12, Pp 2515-2524 (2012)

مصطلحات موضوعية: antibodies, cholesterol, drug therapy, low density lipoprotein metabolism, lipoprotein receptors, proprotein convertase subtilisin/kexin type 9, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0022227520417894; https://doaj.org/toc/0022-2275

URL الوصول: https://doaj.org/article/645b473a30f34f1f88b46360ac04b984

المؤلفون: Loek L. Crefcoeur, Gepke Visser, Sacha Ferdinandusse, Frits A. Wijburg, Mirjam Langeveld, Barbara Sjouke

المصدر: Crefcoeur, L L, Visser, G, Ferdinandusse, S, Wijburg, F A, Langeveld, M & Sjouke, B 2022, ' Clinical characteristics of primary carnitine deficiency : A structured review using a case-by-case approach ', Journal of Inherited Metabolic Disease, vol. 45, no. 3, pp. 386-405 . https://doi.org/10.1002/jimd.12475

مصطلحات موضوعية: phenotyping, primary carnitine deficiency, screening, Infant, Newborn, carnitine, Neonatal Screening, organic cation transporter novel 2, Muscular Diseases, Child, Preschool, Genetics, Humans, Hyperammonemia, Cardiomyopathies, Solute Carrier Family 22 Member 5, clinical characteristics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::464de4328b02f2a8eb0d1131da92abcd
https://doi.org/10.1002/jimd.12475

المؤلفون: Johannes M. F. G. Aerts, Carla E. M. Hollak, Frédéric M. Vaz, Barbara Sjouke, Susan M. I. Goorden, Eline C. B. Eskes, André B.P. van Kuilenburg

المصدر: Molecular Genetics and Metabolism, 130(1), 16-26. ACADEMIC PRESS INC ELSEVIER SCIENCE

مصطلحات موضوعية: Lung Diseases, 0301 basic medicine, Spirometry, Lipid storage disorder, Endocrinology, Diabetes and Metabolism, Disease, 030105 genetics & heredity, Bioinformatics, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Acid sphingomyelinase deficiency (ASMD), Fibrosis, Genetics, Clinical endpoint, Humans, Medicine, Molecular Biology, Niemann-Pick disease type B (NPB), Sphingolipids, medicine.diagnostic_test, business.industry, Surrogate endpoint, Liver Diseases, Macrophages, Biochemical markers, Cholesterol, LDL, Niemann-Pick Disease, Type B, Enzyme replacement therapy, Niemann-Pick Disease, Type A, medicine.disease, Cardiovascular Diseases, Bone Diseases, Acid sphingomyelinase, Imaging parameters, business, Clinical endpoints, Spleen, 030217 neurology & neurosurgery, Biomarkers, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ae3f186a422c1da1c36a483e434f6f2
https://doi.org/10.1016/j.ymgme.2020.02.002

المؤلفون: Sandro Muntoni, Maurizio Averna, Juan F. Ascaso, Antonio Nicolucci, Marco Scardapane, Cesare Sirtori, Marcello Arca, Pablo Prieto-Matos, Davide Noto, José T. Real, Anja Vogt, Francisco Fuentes, Chiara Pavanello, Pedro Mata, Sabina Zambon, Angelo B. Cefalù, Luis Masana, Alberto Zambon, Adolfo Pacifico, Paolo Pintus, Giovanni Mario Pes, Ilenia Minicocci, Miguel Pocovi, Laura D'Erasmo, Mariko Harada-Shiba, Stefano Bertolini, Enzo Manzato, Eduardo Esteve Lafuente, Laura Calabresi, Renato Fellin, Rosa M. Sánchez-Hernández, Barbara Sjouke, Janine E. Roeters Van Lennep

المصدر: Journal of the American College of Cardiology. 71:279-288

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Statin, Atherosclerotic cardiovascular disease, business.industry, medicine.drug_class, 030204 cardiovascular system & hematology, Lomitapide, 03 medical and health sciences, chemistry.chemical_compound, 030104 developmental biology, 0302 clinical medicine, Ezetimibe, chemistry, Autosomal Recessive Hypercholesterolemia, Internal medicine, medicine, Effective treatment, lipids (amino acids, peptides, and proteins), In patient, Cardiology and Cardiovascular Medicine, business, Cardiovascular outcomes, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::24bfcc936833f3b8ca390bc48c74c103
https://doi.org/10.1016/j.jacc.2017.11.028

المؤلفون: John J.P. Kastelein, Bregje van Zaane, G. Kees Hovingh, Laura P. B. Elbers, Victor E. A. Gerdes, Barbara Sjouke

المساهمون: Vascular Medicine, Other departments, Amsterdam Cardiovascular Sciences, ACS - Pulmonary hypertension & thrombosis, ACS - Atherosclerosis & ischemic syndromes

المصدر: Scientific Reports, Vol 7, Iss 1, Pp 1-7 (2017)
Scientific reports, 7(1):14174. Nature Publishing Group
Scientific Reports

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Apolipoprotein B, Lipoproteins, Levothyroxine, lcsh:Medicine, 030204 cardiovascular system & hematology, Article, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Humans, Medicine, 030212 general & internal medicine, lcsh:Science, Liver injury, Cross-Over Studies, Multidisciplinary, Dose-Response Relationship, Drug, biology, business.industry, Thyroid, lcsh:R, medicine.disease, Lipids, Crossover study, Healthy Volunteers, Enzymes, Thyroxine, Dose–response relationship, medicine.anatomical_structure, Endocrinology, Liver, Eprotirome, biology.protein, Triiodothyronine, Female, lipids (amino acids, peptides, and proteins), lcsh:Q, business, medicine.drug, Hormone

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a722405d897077068c4cc47ef82436a8
http://link.springer.com/article/10.1038/s41598-017-14526-2

المؤلفون: Michael W.T. Tanck, Jeanine E. Roeters van Lennep, Albert Wiegman, R. Yahya, G. Kees Hovingh, John J.P. Kastelein, Barbara Sjouke, Joep C. Defesche, Monique T. Mulder, Jacqueline de Graaf

المساهمون: Internal Medicine, Other departments, APH - Methodology, Epidemiology and Data Science, ACS - Amsterdam Cardiovascular Sciences, Human Genetics, Paediatric Metabolic Diseases, Vascular Medicine, ACS - Heart failure & arrhythmias, ACS - Diabetes & metabolism, ACS - Atherosclerosis & ischemic syndromes, ACS - Pulmonary hypertension & thrombosis

المصدر: Journal of Clinical Lipidology, 11, 2, pp. 507-514
Journal of Clinical Lipidology, 11(2), 507-514. Elsevier
Journal of clinical lipidology, 11(2), 507-514. Elsevier BV
Journal of Clinical Lipidology, 11, 507-514

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Apolipoprotein B, Lipoproteins, Endocrinology, Diabetes and Metabolism, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Compound heterozygosity, Hyperlipoproteinemia Type II, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Internal Medicine, Humans, Medicine, 030212 general & internal medicine, Aged, Nutrition and Dietetics, biology, business.industry, PCSK9, Homozygote, nutritional and metabolic diseases, Heterozygote advantage, Lipoprotein(a), Middle Aged, medicine.disease, Endocrinology, Mutation, LDL receptor, biology.protein, Female, lipids (amino acids, peptides, and proteins), Cardiology and Cardiovascular Medicine, business, Lipoprotein

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9430da03d0ad0f7ccc52edda344b3bd1
https://pure.eur.nl/en/publications/d833ebf0-8918-4ce2-b512-633a1780ff9f

المؤلفون: Frederick J. Raal, Geesje Dallinga-Thie, Livia Pisciotta, Maurizio Averna, Jorge Peter, Maxime Passard, Dirk J. Blom, Barbara Sjouke, Kees Hovingh, Alexis Guedon, Maria Laura Cossu, Aurélie Thedrez, Milco Ciccarese, Raul D. Santos, Mickael Croyal, Angelo B. Cefalù, Simon Prampart-Fauvet, Gilles Lambert, Paolo Pintus

المساهمون: Physiologie des Adaptations Nutritionnelles [UMR_A1280] (PhAN), Institut National de la Recherche Agronomique (INRA)-Université de Nantes (UN), Department of Vascular Medicine, Emma Children’s Hospital Academic Medical Centre, Lipidology Division of Internal Medicine, University of Cape Town, Dipartimiento di Nefrologia Dialisi e Trapianto, SS Annunziata Hospital, School of Medicine, University of Patras [Greece], University of Genoa (UNIGE), Lipid Clinic Heart Institute (InCor), University of São Paulo, Sao Paolo Medica School Hospital, Faculty of Health Sciences, Aarhus University [Aarhus], Dipartimento di Medicina Interna, Brotzu Hospital, Diabète athérothrombose et thérapies Réunion Océan Indien (DéTROI), Université de La Réunion (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de La Réunion (UR), Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Investigator Initiated Study Concept Research Grant from Sanofi-Regeneron, Agence Nationale de la Recherche (Programme blanc BCNCT), Thedrez, A., Sjouke, B., Passard, M., Prampart-Fauvet, S., Guédon, A., Croyal, M., Dallinga-Thie, G., Peter, J., Blom, D., Ciccarese, M., Cefalù, A., Pisciotta, L., Santos, R., Averna, M., Raal, F., Pintus, P., Cossu, M., Hovingh, K., Lambert, G., Physiologie des Adaptations Nutritionnelles (PhAN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de La Réunion (UR), Vascular Medicine, Experimental Vascular Medicine

المصدر: Arteriosclerosis, Thrombosis, and Vascular Biology
Arteriosclerosis, Thrombosis, and Vascular Biology, American Heart Association, 2016, 36 (8), pp.1647-1650. ⟨10.1161/ATVBAHA.116.307493⟩
Arteriosclerosis, thrombosis, and vascular biology, 36(8), 1647-1650. Lippincott Williams and Wilkins

مصطلحات موضوعية: Male, 0301 basic medicine, Settore MED/09 - Medicina Interna, [SDV]Life Sciences [q-bio], receptors, alirocumab, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, proprotein convertase subtilisin kexin type 9, 0302 clinical medicine, therapeutics, Lymphocytes, Cells, Cultured, hypercholesterolemia, Anticholesteremic Agents, PCSK9 Inhibitors, Antibodies, Monoclonal, Middle Aged, 3. Good health, Phenotype, Autosomal Recessive Hypercholesterolemia, Kexin, Drug Therapy, Combination, Female, lipids (amino acids, peptides, and proteins), Lovastatin, Proprotein Convertase 9, Cardiology and Cardiovascular Medicine, medicine.drug, Adult, medicine.medical_specialty, Serine Proteinase Inhibitors, Adolescent, Biology, Antibodies, Monoclonal, Humanized, LDL, Young Adult, 03 medical and health sciences, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Adaptor Proteins, Signal Transducing, Alirocumab, PCSK9, receptors, LDL, Cholesterol, LDL, medicine.disease, Proprotein convertase, therapeutic, 030104 developmental biology, Endocrinology, Case-Control Studies, Mutation, LDL receptor, Hydroxymethylglutaryl-CoA Reductase Inhibitors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ab1a2175c963c370de81866d875ef7e
https://doi.org/10.1161/atvbaha.116.307493