المؤلفون: Tebani, Abdellah, Sudrié-Arnaud, Bénédicte, Boudabous, Hela, Brassier, Anais, Anty, Rodolphe, Snanoudj, Sarah, Abergel, Armand, Abi Warde, Marie-Thérèse, Bardou-Jacquet, Edouard, Belbouab, Reda, Blanchet, Eloi, Borderon, Corinne, Bronowicki, Jean-Pierre, Cariou, Bertrand, Carette, Claire, Dabbas, Myriam, Dranguet, Hélène, de Ledinghen, Victor, Ferrières, Jean, Guillaume, Maeva, Krempf, Michel, Lacaille, Florence, Larrey, Dominique, Leroy, Vincent, Musikas, Marietta, Nguyen-Khac, Eric, Ouzan, Denis, Perarnau, Jean-Marc, Pilon, Carine, Ratzlu, Vlad, Thebaut, Alice, Thevenot, Thierry, Tragin, Isabelle, Triolo, Valérie, Verges, Bruno, Vergnaud, Sabrina, Bekri, Soumeya

المساهمون: Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU), Université de Tunis El Manar (UTM), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre méditerranéen de médecine moléculaire (C3M), Université Nice Sophia Antipolis (1965 - 2019) (UNS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Côte d'Azur (UniCA), CHU Clermont-Ferrand, Centre Hospitalier Universitaire Strasbourg (CHU Strasbourg), Les Hôpitaux Universitaires de Strasbourg (HUS), Nutrition, Métabolismes et Cancer (NuMeCan), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Pontchaillou, Université de Batna 2 - Mostefa Ben Boulaid (Batna 2), Hôpitaux La Rochelle Ré Aunis Groupe hospitalier littoral Atlantique, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Hôpital Européen Georges Pompidou APHP (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), CHU Pessac, Equipe Vieillissement (CERPOP), Centre d'Epidémiologie et de Recherche en santé des POPulations (CERPOP), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service Cardiologie CHU Toulouse, Pôle Cardiovasculaire et Métabolique CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire CHU Grenoble (CHUGA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Groupe de Recherche sur l'alcool et les pharmacodépendances - UMR INSERM_S 1247 UPJV (GRAP), Université de Picardie Jules Verne (UPJV)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Arnault Tzanck, CHU Trousseau Tours, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), CHU Nice Cimiez, Hôpital Cimiez Nice (CHU), Lipides - Nutrition - Cancer Dijon - U1231 (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre Hospitalier Universitaire CHU Grenoble (CHUGA), This research was funded by Alexion Pharmaceuticals.

المصدر: ISSN: 0009-8981 ; Clinica Chimica Acta ; https://hal.science/hal-03223991 ; Clinica Chimica Acta, 2021, 519, pp.64-69. ⟨10.1016/j.cca.2021.04.005⟩.

مصطلحات موضوعية: Acid lipase deficiency, CESD, Cholesterol ester storage disease, DBS, Dried blood spot, LAL, Screening, Wolman, MESH: Cholesterol Ester Storage Disease* / diagnosis, MESH: Cholesterol Ester Storage Disease* / genetics, MESH: Wolman Disease* / diagnosis, MESH: Wolman Disease* / genetics, MESH: Cholesterol Esters, MESH: Female, MESH: Humans, MESH: Infant, Newborn, MESH: Lipase, MESH: Pregnancy, MESH: Sterol Esterase / genetics, [SDV]Life Sciences [q-bio]

Relation: info:eu-repo/semantics/altIdentifier/pmid/33857477; PUBMED: 33857477

الاتاحة: https://hal.science/hal-03223991
https://hal.science/hal-03223991v1/document
https://hal.science/hal-03223991v1/file/Tebani%20et%20al.%20-%202021%20-%20Large-Scale%20Screening%20of%20Lipase%20Acid%20Deficiency%20in.pdf
https://doi.org/10.1016/j.cca.2021.04.005

المساهمون: Jeongmin Lee, Ho-Geun Yoon, Yoo-Hyun Lee, Jeongjin Park, Yanghee You, Kyungmi Kim, Ja-Young Jang, Ji-Won Yang, Woojin Jun, Yoon, Ho Geun

مصطلحات موضوعية: 3T3-L1 Cells, Adipocytes/drug effects, Adipocytes/metabolism, Animals, Biological Transport, Curcuma/chemistry, Dose-Response Relationship, Drug, Glucose/metabolism, Glucose Transporter Type 4/metabolism, Glycerol/metabolism, Lipase/genetics, Lipase/metabolism, Lipolysis/drug effects, Mice, Organelles/drug effects, Organelles/metabolism, Plant Extracts/pharmacology, RNA, Messenger/metabolism, Reverse Transcriptase Polymerase Chain Reaction, Sterol Esterase/genetics, Sterol Esterase/metabolism, Triglycerides/metabolism

وصف الملف: 364~370

Relation: JOURNAL OF MEDICINAL FOOD; J01589; OAK-2010-02234; https://ir.ymlib.yonsei.ac.kr/handle/22282913/102634; T201004123; JOURNAL OF MEDICINAL FOOD, Vol.13(2) : 364-370, 2010

الاتاحة: https://ir.ymlib.yonsei.ac.kr/handle/22282913/102634
https://doi.org/10.1089/jmf.2009.1276
http://online.liebertpub.com/doi/abs/10.1089/jmf.2009.1276

المؤلفون: Claire Laurens, Marine Coué, G. Hege Thoresen, Eili Tranheim Kase, Arild C. Rustan, Pierre-Marie Badin, Siril Skaret Bakke, Cedric Moro, Michael Gaster, Yuan Z. Feng, Dominique Langin

المصدر: Kase, E T, Feng, Y Z, Badin, P M, Bakke, S S, Laurens, C, Coue, M, Langin, D, Gaster, M, Thoresen, G H, Rustan, A C & Moro, C 2015, ' Primary defects in lipolysis and insulin action in skeletal muscle cells from type 2 diabetic individuals ', B B A-Molecular and Cell Biology of Lipids, vol. 1851, no. 9, pp. 1194-1201 . https://doi.org/10.1016/j.bbalip.2015.03.005

مصطلحات موضوعية: Glycerol, Male, endocrine system diseases, medicine.medical_treatment, Muscle Fibers, Skeletal, Proto-Oncogene Proteins c-akt/genetics, Lipolysis/drug effects, Insulin, Carbon Radioisotopes, chemistry.chemical_classification, biology, Myogenesis, Chemistry, Muscle Fibers, Skeletal/drug effects, food and beverages, Type 2 diabetes, Middle Aged, Insulin sensitivity, medicine.anatomical_structure, Female, Skeletal muscle cell, Diglycerides/metabolism, Glycogen, Signal Transduction, medicine.medical_specialty, Insulin/metabolism, Lipolysis, Primary Cell Culture, Glycogen/metabolism, Diglycerides, Insulin resistance, Internal medicine, medicine, Humans, Obesity, Glycogen synthase, Molecular Biology, Diacylglycerol kinase, Sterol Esterase/genetics, Diabetes Mellitus, Type 2/complications, nutritional and metabolic diseases, Fatty acid, Skeletal muscle, Biological Transport, Lipase, Cell Biology, Sterol Esterase, medicine.disease, Endocrinology, Type 2 diabetes Insulin sensitivity Skeletal muscle cell Lipase Lipolysis GLYCOGEN-SYNTHASE ACTIVITY HORMONE-SENSITIVE LIPASE INTRAMYOCELLULAR LIPIDS FATTY-ACIDS METABOLISM MYOTUBES OBESITY RESISTANCE OXIDATION TRIACYLGLYCEROL, Glycerol/metabolism, Diabetes Mellitus, Type 2, Gene Expression Regulation, biology.protein, Obesity/complications, Oleic Acid/metabolism, Proto-Oncogene Proteins c-akt, Oleic Acid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34493dbf86c73e31ff5a86cbfe5074a6
https://doi.org/10.1016/j.bbalip.2015.03.005

المؤلفون: Danijela Petković Ramadža, Mario Ćuk, Karin Zibar, Marina Barić, Vladimir Sarnavka, Karmen Bilić, Ksenija Fumić, Jurica Vuković, Silvija Pušeljić, Marijana Ćorić, Ranka Štern Padovan, Marko Kralik, Ivo Barić

المصدر: Liječnički vjesnik
Volume 137
Issue 3-4

مصطلحات موضوعية: Cholesterol Ester Storage Disease, Wolman Disease, Humans, Infant, Enzyme Replacement Therapy, Wolmanova bolest – genetika, dijagnoza, metabolizam, farmakoterapija, Bolest nakupljanja kolesterolskih estera – genetika, dijagnoza, metabolizam, farmakoterapija, Lizozomska kisela lipaza – genetika, nedostatak, terapijska primjena, Kolesterolski esteri – metabolizam, Trigliceridi – metabolizam, Lizozomi – enzimologija, Rekombinirani proteini – terapijska primjena, Enzimsko nadomjesno liječenje, Child, Wolman disease – genetics, diagnosis, metabolism, drug therapy, Cholesterol ester storage disease – genetics, diagnosis, metabolism, drug therapy, Sterol esterase – genetics, deficiency, therapeutic use, Cholesterol esters – metabolism, Triglycerides – metabolism, Lysosomes – enzymology, Recombinant proteins – therapeutic use, Enzyme replacement therapy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::032d5e28b32b78ebb3413d8a7530d0a1
https://pubmed.ncbi.nlm.nih.gov/26065284

Additional Titles: LYSOSOMAL ACID LIPASE DEFICIENCY IN CHILDREN: OUR EXPERIENCE AND A NOVEL POSSIBILITY OF ENZYME REPLACEMENT THERAPY

المؤلفون: Danijela Petković Ramadža, Mario Ćuk, Karin Zibar, Marina Barić, Vladimir Sarnavka, Karmen Bilić, Ksenija Fumić, Jurica Vuković, Silvija Pušeljić, Marijana Ćorić, Ranka Štern Padovan, Marko Kralik, Ivo Barić

المصدر: Liječnički vjesnik; ISSN 0024-3477 (Print); ISSN 1849-2177 (Online); Volume 137; Issue 3-4

مصطلحات الفهرس: Wolmanova bolest – genetika, dijagnoza, metabolizam, farmakoterapija; Bolest nakupljanja kolesterolskih estera – genetika, dijagnoza, metabolizam, farmakoterapija; Lizozomska kisela lipaza – genetika, nedostatak, terapijska primjena; Kolesterolski esteri – metabolizam; Trigliceridi – metabolizam; Lizozomi – enzimologija; Rekombinirani proteini – terapijska primjena; Enzimsko nadomjesno liječenje, Wolman disease – genetics, diagnosis, metabolism, drug therapy; Cholesterol ester storage disease – genetics, diagnosis, metabolism, drug therapy; Sterol esterase – genetics, deficiency, therapeutic use; Cholesterol esters – metabolism; Triglycerides – metabolism; Lysosomes – enzymology; Recombinant proteins – therapeutic use; Enzyme replacement therapy, text, info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion

URL: https://hrcak.srce.hr/172686
https://hrcak.srce.hr/file/254824