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المؤلفون: Mark Dant, Joseph Muenzer, Hillary A. Keenan, Nicole Muschol, Roberto Giugliani
المصدر: Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Archives of Disease in Childhoodمصطلحات موضوعية: Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Delayed Diagnosis, Mucopolysaccharidosis I, medicine.medical_treatment, Time to treatment, Hematopoietic stem cell transplantation, Disease, Severity of Illness Index, Time-to-Treatment, 03 medical and health sciences, Mucopolysaccharidosis type I, 0302 clinical medicine, multidisciplinary team-care, metabolic, therapeutics, medicine, Humans, Enzyme Replacement Therapy, In patient, Registries, Child, Original Research, Retrospective Studies, 0303 health sciences, Tempo para o tratamento, business.industry, 030305 genetics & heredity, Hematopoietic Stem Cell Transplantation, nutritional and metabolic diseases, Infant, Enzyme replacement therapy, Mucopolissacaridose I, monitoring, Child, Preschool, Pediatrics, Perinatology and Child Health, Disease Progression, Female, Observational study, business, 030217 neurology & neurosurgery, Time to diagnosis
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa875d1fe4db217830fe4592780a2e08Test
https://doi.org/10.1136/archdischild-2020-319040Test -
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المؤلفون: Tomas Vaisar, Angela Irwin, Karin E. Bornfeldt, George L. King, Hetal Shah, Hillary A. Keenan, I-Hsien Wu, Carla J. Greenbaum, John Gauthier, Vanessa Bahnam, Jake Wimberger, Jay W. Heinecke, Emily Wolfson, Jenny E. Kanter
المصدر: Diabetes Care
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Time Factors, Lipoproteins, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Cohort Studies, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, Diabetes mellitus, Internal Medicine, medicine, Humans, 030212 general & internal medicine, Pathophysiology/Complications, Aged, Advanced and Specialized Nursing, High concentration, Type 1 diabetes, biology, Aryldialkylphosphatase, business.industry, Cholesterol, Cholesterol, HDL, Paraoxonase, nutritional and metabolic diseases, Middle Aged, Atherosclerosis, medicine.disease, PON1, Cross-Sectional Studies, Diabetes Mellitus, Type 1, Endocrinology, chemistry, biology.protein, Female, lipids (amino acids, peptides, and proteins), business, Diabetic Angiopathies, Ex vivo, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::897d83b3cf31d6798c5e128bc886384cTest
https://doi.org/10.2337/dc19-0772Test -
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المؤلفون: Hillary A. Keenan, Scott G. Frodsham, Emily Wolfson, Liane J. Tinsley, Marc Gregory Yu, Stephanie D’Eon, Susan Bonner-Weir, George L. King, David M. Pober, Hetal Shah, Marcus G. Pezzolesi, Zhiheng He
المصدر: Journal of Clinical Investigation. 129:3252-3263
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Kidney, Type 1 diabetes, Diabetes risk, business.industry, Autoantibody, General Medicine, Human leukocyte antigen, medicine.disease, 03 medical and health sciences, Basal (phylogenetics), 030104 developmental biology, 0302 clinical medicine, medicine.anatomical_structure, Endocrinology, 030220 oncology & carcinogenesis, Internal medicine, Diabetes mellitus, medicine, Allele, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f53a39aff1e316bc00fc6014f299ba2cTest
https://doi.org/10.1172/jci127397Test -
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المؤلفون: Frits A. Wijburg, Joseph Muenzer, Nathalie Guffon, Hillary A. Keenan, Simon Jones, Lorne A. Clarke, David Viskochil, Chester B. Whitley, Maria Veronica Munoz-Rojas, Torayuki Okuyama, Roberto Giugliani
المساهمون: ARD - Amsterdam Reproduction and Development, Paediatric Metabolic Diseases, AGEM - Inborn errors of metabolism
المصدر: Clinical Genetics
Clinical genetics, 96(4), 281-289. Wiley-Blackwellمصطلحات موضوعية: 0301 basic medicine, Male, Mucopolysaccharidosis, Mucopolysaccharidosis I, 030105 genetics & heredity, Global Health, Severity of Illness Index, Iduronidase, Genotype, Medicine, Missense mutation, Registries, Hurler syndrome, skin and connective tissue diseases, Child, Genetics (clinical), genotype‐phenotype, hurler syndrome, High-Throughput Nucleotide Sequencing, mucopolysaccharidosis, Middle Aged, metabolic disease, Phenotype, lysosomal storage disease, Child, Preschool, lysosome, Original Article, Female, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, 03 medical and health sciences, Mucopolysaccharidosis type I, Young Adult, Genetics, Humans, Genetic Predisposition to Disease, Allele, Scheie syndrome, Alleles, Genetic Association Studies, business.industry, Infant, Newborn, nutritional and metabolic diseases, Infant, Original Articles, medicine.disease, 030104 developmental biology, Immunology, Mutation, Age of onset, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34f915517260cb11c719409c6b5b4990Test
http://europepmc.org/articles/PMC6852151Test -
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المؤلفون: Yuliya Lytvyn, Vera Bril, Hillary A. Keenan, Julie A. Lovshin, Genevieve Boulet, Mohammed A. Farooqi, Leif E. Lovblom, Andrej Orszag, Bruce A. Perkins, Alanna Weisman, Vesta Lai, Narinder Paul, Michael H. Brent, David Z.I. Cherney, Daniel Scarr, Petter Bjornstad
المصدر: Kidney International Reports, Vol 4, Iss 6, Pp 786-796 (2019)
Kidney International Reportsمصطلحات موضوعية: medicine.medical_specialty, type 1 diabetes, Population, 030232 urology & nephrology, Urology, Renal function, 030204 cardiovascular system & hematology, urologic and male genital diseases, lcsh:RC870-923, inulin clearance, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Clinical Research, cystatin C, Medicine, education, older adults, β2-microglobulin, glomerular filtration rate, Type 1 diabetes, Inulin Clearance, Creatinine, education.field_of_study, biology, business.industry, Beta-2 microglobulin, creatinine, medicine.disease, lcsh:Diseases of the genitourinary system. Urology, female genital diseases and pregnancy complications, Cystatin C, chemistry, Nephrology, estimating equations, biology.protein, business, Kidney disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42b020c2fe0a943693d9d4799229ff6fTest
http://www.sciencedirect.com/science/article/pii/S2468024919300713Test -
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المؤلفون: Takanori Shinjo, Atsushi Ishikado, David Pober, Thomas E. Van Dyke, Robert J. Genco, George L. King, Hatice Hasturk, I-Hsien Wu, Liane J. Tinsley, Hetal Shah, Samantha M. Paniagua, Hillary A. Keenan, Motonobu Matsumoto
المصدر: Journal of Periodontology. 90:565-575
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Bleeding on probing, Population, Gastroenterology, Severe periodontitis, Article, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Diabetes mellitus, Periodontal Attachment Loss, Humans, Medicine, Periodontitis, education, Aged, Glycated Hemoglobin, Type 1 diabetes, education.field_of_study, business.industry, Dental Plaque Index, 030206 dentistry, Middle Aged, medicine.disease, Cross-Sectional Studies, Diabetes Mellitus, Type 1, 030104 developmental biology, Clinical attachment loss, Periodontics, medicine.symptom, business, Body mass index
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36fa716304284fcd80cba24dd18d9b8dTest
https://doi.org/10.1002/jper.18-0735Test -
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المؤلفون: Monika A. Niewczas, Peter S. Amenta, Thorsten Sadowski, Hetal Shah, Vanessa Bahnam, Aimo Kannt, Kyoungmin Park, Weier Qi, George L. King, Daniel Gordin, David Pober, Hillary A. Keenan, Hui Pan, Yutong Dong, Ronald St-Louis, Takanori Shinjo, Samantha M. Paniagua, Liane J. Tinsley, I-Hsien Wu, Megan J. Brissett, Jonathan M. Dreyfuss
المصدر: Diabetes Care
مصطلحات موضوعية: Male, Proteomics, Endocrinology, Diabetes and Metabolism, Kidney Glomerulus, Type 2 diabetes, urologic and male genital diseases, Kidney, Cohort Studies, Diabetic nephropathy, 0302 clinical medicine, Diabetic Nephropathies, 030212 general & internal medicine, Aged, 80 and over, Middle Aged, Enzymes, Mitochondria, medicine.anatomical_structure, Disease Progression, Female, Autopsy, Metabolic Networks and Pathways, Glomerular Filtration Rate, medicine.medical_specialty, Pyruvate Kinase, 030209 endocrinology & metabolism, PKM2, 03 medical and health sciences, Downregulation and upregulation, Internal medicine, Diabetes mellitus, Internal Medicine, medicine, Humans, Metabolomics, Renal Insufficiency, Chronic, Pathophysiology/Complications, Aged, Advanced and Specialized Nursing, business.industry, Kidney metabolism, medicine.disease, Diabetes Mellitus, Type 1, Glucose, Endocrinology, Diabetes Mellitus, Type 2, Mitochondrial biogenesis, Case-Control Studies, business, Biomarkers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6638a6132a3c581bca05ec2d0bd71588Test
https://doi.org/10.2337/dc18-2585Test -
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المؤلفون: Andrew Advani, Genevieve Boulet, Vesta Lai, Narinder Paul, Petter Bjornstad, Yuliya Lytvyn, David Z.I. Cherney, Leif E. Lovblom, Vera Bril, Julie A. Lovshin, Josephine Tse, Bruce A. Perkins, Alanna Weisman, Etienne Sochett, Mohammed A. Farooqi, Leslie Cham, Michael H. Brent, Hillary A. Keenan, Sunita K. Singh
المصدر: Diabetes Obes Metab
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Hemodynamics, Renal function, 030209 endocrinology & metabolism, Pulse Wave Analysis, 030204 cardiovascular system & hematology, Kidney, Plasma renin activity, Article, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, Vascular Stiffness, 0302 clinical medicine, Endocrinology, Internal medicine, Renin–angiotensin system, Internal Medicine, medicine, Humans, Pulse wave velocity, Aged, Retrospective Studies, Aldosterone, business.industry, Age Factors, Effective renal plasma flow, Middle Aged, medicine.disease, Uric Acid, Diabetes Mellitus, Type 1, chemistry, Cardiology, Arterial stiffness, Female, business, Glomerular Filtration Rate
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::631f606cc232e89885a11ba5c1415a35Test
https://doi.org/10.1111/dom.13665Test -
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المؤلفون: Genevieve Boulet, Narinder Paul, Leif E. Lovblom, Julie A. Lovshin, Hillary A. Keenan, Josephine Tse, Bruce A. Perkins, Vesta Lai, Nigar Sekercioglu, Leslie Cham, Vera Bril, David Z.I. Cherney, Yuliya Lytvyn, Mohammed A. Farooqi, Andrej Orszag, Michael H. Brent, Petter Bjornstad
المصدر: Renal Failure
Renal Failure, Vol 41, Iss 1, Pp 427-433 (2019)مصطلحات موضوعية: Male, Canada, medicine.medical_specialty, Diabetic neuropathy, media_common.quotation_subject, Longevity, 030232 urology & nephrology, Disease, 030204 cardiovascular system & hematology, Critical Care and Intensive Care Medicine, Independent predictor, 03 medical and health sciences, 0302 clinical medicine, Heart Rate, Risk Factors, Diabetes mellitus, Internal medicine, Prevalence, medicine, Humans, Diabetic Nephropathies, Aged, media_common, Type 1 diabetes, Diabetic kidney, urogenital system, business.industry, Age Factors, General Medicine, Diabetic retinopathy, Middle Aged, medicine.disease, Diseases of the genitourinary system. Urology, diabetic kidney disease, diabetic neuropathy, diabetic retinopathy, Cross-Sectional Studies, Diabetes Mellitus, Type 1, Nephrology, Clinical Study, Female, RC870-923, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edf35525fda0be7c1a1c1db15ad3d785Test
https://doi.org/10.1080/0886022x.2019.1614057Test -
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المؤلفون: Hillary A. Keenan, Vesta Lai, Vera Bril, Alexandra Katz, Narinder Paul, Michael H. Brent, Andrej Orszag, Kylen D McReelis, Bruce A. Perkins, Leif E. Lovblom, Leslie Cham, Julie A. Lovshin, Yuliya Lytvyn, David Z.I. Cherney, Josephine Tse, David T. Wong, Genevieve Boulet, Petter Bjornstad
المصدر: Diabetes Care. 42:273-280
مصطلحات موضوعية: Adult, Male, Canada, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Longevity, Blood Pressure, 030209 endocrinology & metabolism, 030204 cardiovascular system & hematology, Macular Edema, Renin-Angiotensin System, 03 medical and health sciences, Vascular Stiffness, 0302 clinical medicine, Internal medicine, Diabetes mellitus, Photography, Prevalence, Internal Medicine, Humans, Medicine, Pathophysiology/Complications, Aged, Macrovascular disease, Advanced and Specialized Nursing, Type 1 diabetes, Diabetic Retinopathy, business.industry, Diabetic retinopathy, Middle Aged, medicine.disease, Angiotensin II, eye diseases, Cross-Sectional Studies, Diabetes Mellitus, Type 1, Case-Control Studies, Arterial stiffness, Cardiology, Female, business, Diabetic Angiopathies, Tomography, Optical Coherence, Kidney disease, Retinopathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b443a999b399d7467e665ea279e86ddTest
https://doi.org/10.2337/dc18-1809Test