المؤلفون: Jie Zhang, Peter Yu, Ying Bao, Cathy W Critchlow, Corina Bennett, Fang He, Julia Zhu, Zhongyuan Wei, Qian Xia, Jenny Jiang, Olulade Ayodele, Brian D Bradbury, Corinne Brooks, Carolyn A Brown, Alvan Cheng, Giovanna Devercelli, Kathleen Gondek, Ajit A Londhe, Junjie Ma, Michele Jonsson-Funk, Hillary A Keenan, Kaili Ren, Lynn Sanders, Linyun Zhou, John H Page, J Michael Sprafka, Megan Braunlin, Prista Charuworn, Karminder Gill, Jeffrey Petersen, Katherine B Carlson, Shun-Chiao Chang, Kimberly A Roehl, Luyang Wang

المصدر: BMJ Open, Vol 12, Iss 2 (2022)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

العلاقة: https://bmjopen.bmj.com/content/12/2/e055137.fullTest; https://doaj.org/toc/2044-6055Test

الوصول الحر: https://doaj.org/article/8d862731349f4c36b3e1599111849ac7Test

المؤلفون: Jie Zhang, Peter Yu, Sudhakar Manne, Ying Bao, Cathy W Critchlow, Julia Zhu, Zhongyuan Wei, Manasi Suryavanshi, Xiu Chen, Qian Xia, Jenny Jiang, Olulade Ayodele, Brian D Bradbury, Corinne Brooks, Carolyn A Brown, Alvan Cheng, Giovanna Devercelli, Vivek Gandhi, Kathleen Gondek, Ajit A Londhe, Junjie Ma, Michele Jonsson-Funk, Hillary A Keenan, Kaili Ren, Lynn Sanders, Linyun Zhou

المصدر: BMJ Open, Vol 11, Iss 8 (2021)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

العلاقة: https://bmjopen.bmj.com/content/11/8/e051588.fullTest; https://doaj.org/toc/2044-6055Test

الوصول الحر: https://doaj.org/article/0e3c644e58f9442c8c9f5cc25b1c4819Test

المؤلفون: Daniel Scarr, Leif E Lovblom, Nancy Cardinez, Andrej Orszag, Mohammed A Farooqi, Genevieve Boulet, Alanna Weisman, Julie A Lovshin, Mylan Ngo, Narinder Paul, Hillary A Keenan, Michael H Brent, David Z Cherney, Vera Bril, Bruce A Perkins

المصدر: PLoS ONE, Vol 13, Iss 4, p e0196647 (2018)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC5927425?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/ef0fe851c2fa4db8a3c23067bdf0ac7bTest

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 Childhood

مصطلحات 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

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

المؤلفون: Rachel G. Miller, Erkka Valo, Jani K. Haukka, Tina Costacou, Barbara E.K. Klein, Beata Gyorgy, Joseph V. Bonventre, Katalin Susztak, Hillary A. Keenan, James H. Warram, Marlon Pragnell, Ivan G. Shabalin, Andrew D. Paterson, Stephen S. Rich, Takaharu Ichimura, Jingjing Cao, Suna Onengut-Gumuscu, Ronald Klein, Kristina O’Neil, Eiichiro Satake, Marcus G. Pezzolesi, Josyf C. Mychaleckyj, Niina Sandholm, Christian Dina, Andrzej T. Galecki, George L. King, Trevor J. Orchard, Samy Hadjadj, Per-Henrik Groop, Adam M. Smiles, Carol Forsblom, Andrzej S. Krolewski, David-Alexandre Trégouët, Tarunveer S. Ahluwalia, Peter Rossing, Ron Korstanje

المساهمون: Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), CAMM - Research Program for Clinical and Molecular Metabolism, HUS Abdominal Center, Nefrologian yksikkö, Research Programs Unit, Clinicum, Medicum, Department of Medicine, Per Henrik Groop / Principal Investigator

المصدر: Journal of the American Society of Nephrology
Journal of the American Society of Nephrology, American Society of Nephrology, 2021, 32 (10), pp.2634-2651. ⟨10.1681/ASN.2020101457⟩

مصطلحات موضوعية: Gene-based tests, GENES, GENETICS, NEPHROPATHY, DURATION, 030209 endocrinology & metabolism, Hydroxysteroid 17-beta dehydrogenase 14, Diabetic nephropathy, Biology, 03 medical and health sciences, 0302 clinical medicine, Gene expression, medicine, Coding region, GENOME-WIDE ASSOCIATION, Diabetic kidney disease, PREDICTORS, Gene, Exome, 030304 developmental biology, RISK, 0303 health sciences, Type 1 diabetes, Kidney, COMPLICATIONS, End stage kidney disease, MICROALBUMINURIA, Rare variants, General Medicine, medicine.disease, RENAL DECLINE, medicine.anatomical_structure, Nephrology, 3121 General medicine, internal medicine and other clinical medicine, Cancer research, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1d8ebafcd82a8106854f67bac0a578dTest
http://hdl.handle.net/20.500.12278/123983Test

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

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-Blackwell

مصطلحات 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

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 Reports

مصطلحات 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

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