نتائج البحث - "Hyperlipoproteinemia Type II diagnosis"

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Genetic testing increases the likelihood of a diagnosis of familial hypercholesterolaemia among people referred to lipid clinics:Danish national study

المؤلفون: Berit Storgaard Hedegaard, Christian Sørensen Bork, Helle Lynge Kanstrup, Kristian Korsgaard Thomsen, Merete Heitmann, Lia Evi Bang, Finn Lund Henriksen, Lars Juel Andersen, Thomas Gohr, Mette Rauhe Mouridsen, Anne Merete Boas Soja, Frank-Peter Elpert, Tomas Joen Jakobsen, Anette Sjøl, Albert Marni Joensen, Børge Grønne Nordestgaard, Ib Christian Klausen, Erik Berg Schmidt

المصدر: Hedegaard, B S, Bork, C S, Kanstrup, H L, Thomsen, K K, Heitmann, M, Bang, L E, Henriksen, F L, Andersen, L J, Gohr, T, Mouridsen, M R, Soja, A M B, Elpert, F-P, Jakobsen, T J, Sjøl, A, Joensen, A M, Nordestgaard, B G, Klausen, I C & Schmidt, E B 2023, ' Genetic testing increases the likelihood of a diagnosis of familial hypercholesterolaemia among people referred to lipid clinics : Danish national study ', Atherosclerosis, vol. 373, pp. 10-16 . https://doi.org/10.1016/j.atherosclerosis.2023.04.003

مصطلحات موضوعية: Cholesterol, LDL/genetics, Hyperlipoproteinemia Type II/diagnosis, LDL cholesterol, Referral criteria, Humans, Genetic Testing, Cardiology and Cardiovascular Medicine, Cardiovascular disease, Familial hypercholesterolaemia, Denmark/epidemiology, Lipid clinics

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::128247a656cb46a6b40278a39f8ac015
https://pure.au.dk/portal/da/publications/genetic-testing-increases-the-likelihood-of-a-diagnosis-of-familial-hypercholesterolaemia-among-people-referred-to-lipid-clinics(04844d4d-7d62-4001-be48-a0bf2be5b838).html

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How Genetic Variants in Children with Familial Hypercholesterolemia Not Only Guide Detection, but Also Treatment

المؤلفون: Sibbeliene E. van den Bosch, Willemijn E. Corpeleijn, Barbara A. Hutten, Albert Wiegman

المصدر: van den Bosch, S E, Corpeleijn, W E, Hutten, B A & Wiegman, A 2023, ' How Genetic Variants in Children with Familial Hypercholesterolemia Not Only Guide Detection, but Also Treatment ', Genes, vol. 14, no. 3, 669 . https://doi.org/10.3390/genes14030669

مصطلحات موضوعية: Homozygous Familial Hypercholesterolemia, Proprotein Convertase 9/genetics, lipid-lowering therapy, familial hypercholesterolemia, LDL/genetics, cholesterol, genetic screening, lipids, Hyperlipoproteinemia Type II/diagnosis, Cardiovascular Diseases/genetics, Genetics, Humans, Carrier Proteins, Child, Genetics (clinical), Angiopoietin-Like Protein 3

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc56fbc06c15caa0ff02bb3f975e73ff
https://doi.org/10.3390/genes14030669

Find this article in full text from ProQuest

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Une histoire familiale d’hypercholestérolémie – le rôle de la génétique [A Family History of Hypercholesterolemia - the Role of Genetics]

المؤلفون: Podmore, C., Deillon, E., Nanchen, D.

المصدر: Praxis, vol. 112, no. 4, pp. 245-249

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1900::5aabeab1732cc8af0789a06a081d3cb2
https://serval.unil.ch/notice/serval:BIB_5F507B465100

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Familial hypercholesterolaemia:a study protocol for identification and investigation of potential causes and markers of subclinical coronary artery disease in the Faroe Islands

المؤلفون: Sanna á Borg, Michael Rene Skjelbo Nielsen, Peter Søgaard, Søren Lundbye-Christensen, Jan Jóanesarson, Tomas Zaremba, Rudi Kollslíð, Erik Berg Schmidt, Albert Marni Joensen, Christian Sørensen Bork

المصدر: Borg, S Á, Nielsen, M R S, Søgaard, P, Lundbye-Christensen, S, Jóanesarson, J, Zaremba, T, Kollslíð, R, Schmidt, E B, Joensen, A M & Bork, C S 2022, ' Familial hypercholesterolaemia : a study protocol for identification and investigation of potential causes and markers of subclinical coronary artery disease in the Faroe Islands ', BMJ Open, vol. 12, no. 4, e050857 . https://doi.org/10.1136/bmjopen-2021-050857

مصطلحات موضوعية: Adult, Ischaemic heart disease, Adolescent, General Medicine, Coronary Artery Disease, Middle Aged, Lipids, Cardiac Epidemiology, Hyperlipoproteinemia Type II, Young Adult, Risk Factors, Echocardiography, Hyperlipoproteinemia Type II/diagnosis, Humans, Lipid disorders, Coronary Artery Disease/diagnosis, Genetic Testing, Biomarkers, Aged

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1406752a45a86bcd6dd4b31a209bfbb4
https://vbn.aau.dk/da/publications/3502ad1b-517d-44df-abc4-0086df1670ca

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Dépistage génétique en cascade de l’hypercholestérolémie familiale - Une nouvelle opportunité pour la prévention cardiovasculaire [Cascade genetic testing of familial hypercholesterolemia A new opportunity for prevention]

المؤلفون: Butty, A., Von Känel, T., Gallino, A., Beer, J.H., Nanchen, D.

المصدر: Revue medicale suisse, vol. 18, no. 772, pp. 438-443

مصطلحات موضوعية: Early Diagnosis, Genetic Testing, Humans, Hyperlipoproteinemia Type II/diagnosis, Hyperlipoproteinemia Type II/genetics, Life Style, Switzerland/epidemiology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1900::9f929d749833cda75392cbc0f806e66a
https://serval.unil.ch/resource/serval:BIB_539A27F7EE4E.P001/REF.pdf

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Fenótipo complexo de hipercolesterolémia em família com mutações dos genes ABCG8 e APOB

المؤلفون: Ferreira, Ana Cristina, Alves, Ana Catarina, Medeiros, Ana Margarida, Padeira, Gonçalo, Bourbon, Mafalda

المصدر: Portuguese Journal of Pediatrics; Vol. 52 No. 4 (2021)
Portuguese Journal of Pediatrics; Vol. 52 N.º 4 (2021)
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Portuguese Journal of Pediatrics, Vol 52, Iss 4 (2021)

مصطلحات موضوعية: Medicine (General), Hyperlipoproteinemia Type II/genetics, Hyperlipoproteinemia Type II/drug therapy, HDE MTB, Hypercholesterolemia, nutritional and metabolic diseases, Hyperlipoproteinemia Type II/ diet therapy, Pediatrics, RJ1-570, R5-920, Risk Factors, Hyperlipoproteinemia Type II/diagnosis, Intestinal Absorption/genetics, Child, Preschool, Mutation, lipids (amino acids, peptides, and proteins)