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المؤلفون: Gregory A, Grabowski, Pramod K, Mistry
المصدر: Molecular Genetics and Metabolism. 137:81-91
مصطلحات موضوعية: Lysosomal Storage Diseases, Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Humans, Fabry Disease, Mucopolysaccharidoses, Molecular Biology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05a48a5b4f0723f995954f59e48c0f94Test
https://doi.org/10.1016/j.ymgme.2022.07.014Test -
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المؤلفون: Lauren, Jimenez-Kurlander, Christine N, Duncan
المصدر: Hematology/Oncology Clinics of North America. 36:853-864
مصطلحات موضوعية: Lysosomal Storage Diseases, Oncology, Hematopoietic Stem Cell Transplantation, Humans, Genetic Therapy, Hematology, Nervous System Diseases, Child, Hematopoietic Stem Cells
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fa649ea4ca337e3b9862bfaf2e45c40Test
https://doi.org/10.1016/j.hoc.2022.05.003Test -
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المصدر: Medicina Clínica (English Edition). 158:547-549
مصطلحات موضوعية: Lysosomal Storage Diseases, Humans, General Medicine, Lysosomes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05ad5c5ef856b9d42e085cb741c398a5Test
https://doi.org/10.1016/j.medcle.2022.05.003Test -
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المؤلفون: Francis X. McCormack, Christopher Radchenko, Ruchira Sengupta, Jason C. Woods, Muhammad A. Zafar, Alister J. Bates, Ralph J. Panos
المصدر: Chest. 160:e333-e337
مصطلحات موضوعية: Adult, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Walk Test, Positive expiratory pressure, Critical Care and Intensive Care Medicine, Quality of life, Internal medicine, Bronchoscopy, Pressure, medicine, Humans, Oximetry, Respiratory system, Collapse (medical), Continuous Positive Airway Pressure, business.industry, Minimal clinically important difference, Equipment Design, respiratory system, Magnetic Resonance Imaging, Bronchiectasis, respiratory tract diseases, Lysosomal Storage Diseases, Trachea, Dyspnea, Equipment and Supplies, Pulmonary Emphysema, Walk test, Oxyhemoglobins, Printing, Three-Dimensional, Quality of Life, Respiratory Mechanics, Room air distribution, Cardiology, Female, medicine.symptom, Cardiology and Cardiovascular Medicine, Airway, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0342cce0c78f97d57c62567a4d540a7eTest
https://doi.org/10.1016/j.chest.2021.04.059Test -
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المؤلفون: Papai Roy, Ratna Dua Puri, Divya C. Thomas, Jyotsna Verma, I. C. Verma
المصدر: Clinica Chimica Acta. 521:177-190
مصطلحات موضوعية: 2019-20 coronavirus outbreak, medicine.medical_specialty, Clinical Biochemistry, Lysosomal storage disorders, Biochemistry, Gastroenterology, Diagnostic aid, Lyso, Tandem Mass Spectrometry, Internal medicine, Humans, Medicine, In patient, Sphingolipids, business.industry, Biochemistry (medical), Indian population, General Medicine, respiratory system, medicine.disease, Fabry disease, Molecular analysis, Lysosomal Storage Diseases, Fabry Disease, lipids (amino acids, peptides, and proteins), Lysosomes, business, Biomarkers, Chromatography, Liquid
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67008aedad3a2003fadc07d2e26b0548Test
https://doi.org/10.1016/j.cca.2021.07.017Test -
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المؤلفون: Norio Sakai, Yoko Lee, Kazuya Tsuboi, Junko Matsuda, Naoko Kakee, Koji Kato, Yoshikatsu Eto, Nobuyuki Shimozawa, Ritei Uehara, Yuta Koto, Yoshikazu Nakamura, Torayuki Okuyama, Kimitoshi Nakamura, Hiroshi Kobayashi, Aya Narita
المصدر: Molecular Genetics and Metabolism. 133:277-288
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Disease, 030105 genetics & heredity, Biochemistry, Peroxisomal Disorders, Young Adult, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Endocrinology, Japan, Surveys and Questionnaires, Peroxisomal disorder, Mucopolysaccharidosis I, Prevalence, Genetics, Humans, Medicine, Enzyme Replacement Therapy, Medical history, Child, Molecular Biology, Aged, Aged, 80 and over, business.industry, Hematopoietic Stem Cell Transplantation, Infant, Newborn, Infant, Enzyme replacement therapy, Middle Aged, medicine.disease, Fabry disease, Lysosomal Storage Diseases, Metachromatic leukodystrophy, Child, Preschool, Epidemiological Monitoring, Female, Adrenoleukodystrophy, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74ef9b80e1feb822e36d89cba3ee6eccTest
https://doi.org/10.1016/j.ymgme.2021.05.004Test -
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المؤلفون: Audrey Jalabert, Audrey Villard-Garon, Sophie Rome, Annette Draeger, Pascal Colosetti, Christophe O. Soulage, Françoise Hullin-Matsuda, Isabelle Delton, Cyrille Bergerot, Céline Luquain-Costaz, Elisabeth Errazuriz-Cerda, Valentin Leuzy, Mathilde Di Filippo, Annie Durand, Baptiste Fourmaux, Maxence Rabia, René Köffel, Philippe Moulin
المساهمون: Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Physiologie intégrative, cellulaire et moléculaire (PICM), Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Institut National de la Santé et de la Recherche Médicale (INSERM), French Ministery of education Institut National de la Sante et de la Recherche Medicale (Inserm) University of Bern SFD (Societe Francophone du Diabete_AE 2016) VML (Vaincre les Maladies Lysosomales_convention AO2018-6)
المصدر: Biochimie
Biochimie, 2020, ⟨10.1016/j.biochi.2020.07.005⟩مصطلحات موضوعية: Male, 0301 basic medicine, THP-1 Cells, Endosome, [SDV]Life Sciences [q-bio], Phospholipid, Amiodarone, Pilot Projects, Endosomes, Exosomes, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, Lysosomal storage diseases, medicine, Extracellular, Animals, Humans, 610 Medicine & health, Aged, Phospholipidosis, Kidney, 030102 biochemistry & molecular biology, CD63, Chemistry, Macrophages, Bis(monoacylglycero)phosphate, General Medicine, Middle Aged, Extracellular vesicles, Lysobisphosphatidic acid, Endolysosome, Microvesicles, Rats, Cell biology, Docosahexaenoic acid, HEK293 Cells, 030104 developmental biology, medicine.anatomical_structure, interest, Monoglycerides, Female, Kidney Diseases, Lysophospholipids, Lysosomes, Anti-Arrhythmia Agents, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15d9635ec3b56ac0b8edbba60e968406Test
https://doi.org/10.1016/j.biochi.2020.07.005Test -
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المؤلفون: Elena García-González, Yolanda Gonzalez-Irazabal, Carlos Lahoz, Laura López de Frutos, Pilar Irún, Jorge J. Cebolla, Pilar Giraldo, Beatriz Garcia-Rodriguez
المصدر: Clinica Chimica Acta. 510:430-436
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Clinical Biochemistry, Population, Lysosomal acid lipase deficiency, Biochemistry, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Gammopathy, medicine, Humans, education, Multiple myeloma, education.field_of_study, Gaucher Disease, medicine.diagnostic_test, business.industry, Biochemistry (medical), General Medicine, medicine.disease, Blood proteins, Lysosomal Storage Diseases, 030104 developmental biology, 030220 oncology & carcinogenesis, Serum protein electrophoresis, Monoclonal, Immunoglobulin Light Chains, Lysosomes, Multiple Myeloma, business, Nephelometry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3e4626c8cd430c3a9f064e9f0559d51Test
https://doi.org/10.1016/j.cca.2020.07.056Test -
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المؤلفون: Flávia Nathiely Silveira Fachel, Lariane Frâncio, Édina Poletto, Roselena Silvestri Schuh, Helder Ferreira Teixeira, Roberto Giugliani, Guilherme Baldo, Ursula Matte
المصدر: Advanced Drug Delivery Reviews. 191:114616
مصطلحات موضوعية: Gene Editing, Lysosomal Storage Diseases, Animals, Pharmaceutical Science, Enzyme Replacement Therapy, Mucopolysaccharidoses, Lysosomes
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbe4d8a14fcd4afedd175515c200b788Test
https://doi.org/10.1016/j.addr.2022.114616Test -
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المؤلفون: Gaudioso, Ángel, Silva, Teresa P., Dolores Ledesma, María
المساهمون: Repositório da Universidade de Lisboa
المصدر: Advanced Drug Delivery Reviews. 190:114532
مصطلحات موضوعية: Optogenetics, Organoids, Lysosomal Storage Diseases, Lysergic Acid Diethylamide, Omics, iPSCs, Animals, Pharmaceutical Science, Storage disorders, Lysosomes, BBB, Animal models
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51951c94bdaa36fbfd65e99e233d8f16Test
https://doi.org/10.1016/j.addr.2022.114532Test
