المؤلفون: Ryan Iverson, Monica Taljaard, Michael T. Geraghty, Michael Pugliese, Kylie Tingley, Doug Coyle, Jonathan B. Kronick, Kumanan Wilson, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Nancy J. Butcher, Alicia K. J. Chan, Sarah Dyack, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain-Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Aizeddin Mhanni, John J. Mitchell, Laura Nagy, Martin Offringa, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Kendra Tapscott, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Anthony Vandersteen, Jagdeep S. Walia, Brenda J. Wilson, Andrea C. Yu, Beth K. Potter, Pranesh Chakraborty

المصدر: BMC Pediatrics, Vol 24, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: MCAD deficiency, Core outcome set, Data quality, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/7eb12ffd1f3f4a9898861100013c4093

المؤلفون: Ashley Wilson, Vivian Cruz, Jonathan B. Kronick

المصدر: JIMD Reports, Vol 55, Iss 1, Pp 22-25 (2020)

مصطلحات موضوعية: cblC, cobalamin C deficiency, combined methylmalonic aciduria and homocystinuria, hydroxycobalamin, vitamin B12, movement disorder, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/73873a681f934dc7a4aaaf054e7188f6

المؤلفون: Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T. Geraghty, Jonathan B. Kronick, Beth K. Potter, Doug Coyle, Kumanan Wilson, Michael Kowalski, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Alicia K. J. Chan, Sarah Dyack, Annette Feigenbaum, Alette Giezen, Sharan Goobie, Cheryl R. Greenberg, Shailly Jain Ghai, Michal Inbar-Feigenberg, Natalya Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer MacKenzie, Bruno Maranda, Saadet Mercimek-Andrews, Connie Mohan, Aizeddin Mhanni, Grant Mitchell, John J. Mitchell, Laura Nagy, Melanie Napier, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Hilary Vallance, Anthony Vandersteen, Jagdeep Walia, Ashley Wilson, Brenda J. Wilson, Andrea C. Yu, Nataliya Yuskiv, Pranesh Chakraborty, on behalf of the Canadian Inherited Metabolic Diseases Research Network

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-12 (2020)

مصطلحات موضوعية: Inherited metabolic diseases, Observational research, Registry science, Data quality, Database, Sustainability, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01358-z; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/4dd97f1f0f9c499290bec8147590f10e

المؤلفون: Maria D. Karaceper, Sara D. Khangura, Kumanan Wilson, Doug Coyle, Marni Brownell, Christine Davies, Linda Dodds, Annette Feigenbaum, Deshayne B. Fell, Scott D. Grosse, Astrid Guttmann, Steven Hawken, Robin Z. Hayeems, Jonathan B. Kronick, Anne-Marie Laberge, Julian Little, Aizeddin Mhanni, John J. Mitchell, Meranda Nakhla, Murray Potter, Chitra Prasad, Cheryl Rockman-Greenberg, Rebecca Sparkes, Sylvia Stockler, Keiko Ueda, Hilary Vallance, Brenda J. Wilson, Pranesh Chakraborty, Beth K. Potter, in collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Newborn screening, Inherited metabolic diseases, Health service utilization, Medium-chain acyl-CoA dehydrogenase deficiency, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1001-0; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/a72bcbf99e054f53a45cf6d8dba004cf

المؤلفون: Sali M. K. Farhan, Jian Wang, John F. Robinson, Piya Lahiry, Victoria M. Siu, Chitra Prasad, Jonathan B. Kronick, David A. Ramsay, C. Anthony Rupar, Robert A. Hegele

المصدر: Molecular Genetics & Genomic Medicine, Vol 2, Iss 1, Pp 73-80 (2014)

مصطلحات موضوعية: Autozygosity mapping, Fe‐S proteins, mitochondrial complex deficiency, NFS1, whole‐exome sequencing., Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/1eb51256fe8f4b6ca24045e47c3b068a

المؤلفون: Andrea J. Chow, Michael Pugliese, Laure A. Tessier, Pranesh Chakraborty, Ryan Iverson, Doug Coyle, Jonathan B. Kronick, Kumanan Wilson, Robin Hayeems, Walla Al-Hertani, Michal Inbar-Feigenbe

المصدر: Springer;International Academy of Health Preference Research, The Patient: Patient-Centered Outcomes Research. 15(2):171-185

الإتاحة: https://ideas.repec.org/a/spr/patien/v15y2022i2d10.1007_s40271-021-00538-8.html

المؤلفون: Laura L. Guilder, Jonathan B. Kronick

المصدر: Pediatrics in review. 43(3)

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Humans, Amino Acid Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eca37f1991476ff35a960f12a632ed65
https://pubmed.ncbi.nlm.nih.gov/35229111

المؤلفون: Shailly Jain-Ghai, Michael Pugliese, Kumanan Wilson, Robin Z. Hayeems, Jonathan B. Kronick, Julian Little, Rebecca Sparkes, Pranesh Chakraborty, Sylvia Stockler, Kathy N. Speechley, Anne-Marie Laberge, Andrea Chow, Doug Coyle, Komudi Siriwardena, Michal Inbar-Feigenberg, Ryan Iverson, Beth K. Potter, Walla Al-Hertani, Chitra Prasad, Brenda Wilson, Laure Tessier, John J. Mitchell, Jagdeep S. Walia, Yannis Trakadis

المصدر: Paediatrics Publications
The Patient

مصطلحات موضوعية: Parents, medicine.medical_specialty, Pharmacy, Health administration, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Metabolic Diseases, 030225 pediatrics, Health care, medicine, Humans, Family, Original Research Article, 030212 general & internal medicine, Child, Response rate (survey), Health economics, business.industry, Family caregivers, Public health, Emergency department, 3. Good health, Cross-Sectional Studies, Caregivers, Family medicine, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6013f39a76821a2dea2045d2db5bc029
https://ir.lib.uwo.ca/paedpub/1932

المؤلفون: Kylie Tingley, Brian Hutton, Chitra Prasad, Nancy J. Butcher, Ryan Iverson, Jonathan B. Kronick, Pranesh Chakraborty, Andreas Schulze, Cheryl R Greenberg, Alex MacKenzie, John J Mitchell, Becky Skidmore, Murray Potter, Sylvia Stockler, Nicole Pallone, Julie K Irwin, Maureen A. Smith, Jagdeep Walia, Rebecca Sparkes, Andrea Chow, Martin Offringa, Tammy Clifford, Jennifer MacKenzie, Beth K. Potter, Jessica Tao, Alvi Rahman, Monica Taljaard, Doug Coyle, Stuart G. Nicholls, Natalya Karp, Michael Pugliese, Lawrence Korngut, Sarah Dyack, Karen Paik, Shailly Jain Ghai, Yannis Trakadis, Michael T. Geraghty, Laure A Tessier, Monica Lamoureux, Kathleen Duddy, Bruno Maranda

المصدر: Pediatrics

مصطلحات موضوعية: medicine.medical_specialty, business.industry, MEDLINE, Delphi method, Disease, Medium-Chain Acyl-CoA Dehydrogenase Deficiency, Outcome (game theory), Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, Article, Family medicine, Scale (social sciences), Child, Preschool, Phenylketonurias, Pediatrics, Perinatology and Child Health, Outcome Assessment, Health Care, Medicine, Humans, business, Child, computer, Delphi, Health policy, computer.programming_language

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6209695f5e486ab5e5e0c3faeeaf5fcc
https://pubmed.ncbi.nlm.nih.gov/34266902

المؤلفون: Tammy Clifford, Kylie Tingley, Sylvia Stockler, Alvi Rahman, Alex MacKenzie, Michael T. Geraghty, Martin Offringa, Jennifer MacKenzie, Karen Paik, Ryan Iverson, Monica Taljaard, Andreas Schulze, Sarah Dyack, Nicole Pallone, John J. Mitchell, Michael Pugliese, Chitra Prasad, Doug Coyle, Brian Hutton, Rebecca Sparkes, Laure Tessier, Pranesh Chakraborty, Julie Irwin, Natalya Karp, Lawrence Korngut, Jonathan B. Kronick, Becky Skidmore, Maureen Smith, Bruno Maranda, Yannis Trakadis, Cheryl R. Greenberg, Stuart G. Nicholls, Jagdeep S. Walia, Murray A. Potter, Nancy J. Butcher, Shailly Jain Ghai, Beth K. Potter, Kathleen Duddy, Andrea Chow, Jessica Tao

المساهمون: University of Manitoba

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-15 (2020)
Paediatrics Publications
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Phenylketonurias, Psychological intervention, MEDLINE, lcsh:Medicine, Review, Acyl-CoA Dehydrogenase, Lipid Metabolism, Inborn Errors, 03 medical and health sciences, 0302 clinical medicine, Rare Diseases, Medium-chain acyl-CoA dehydrogenase, medicine, Humans, Patient-oriented outcomes, Pharmacology (medical), 030212 general & internal medicine, Phenylketonuria (PKU), Genetics (clinical), business.industry, Inborn Errors, MCAD deficiency, lcsh:R, Cognition, General Medicine, core outcome sets, medicine.disease, Lipid Metabolism, Human genetics, 3. Good health, Rare diseases, patient-oriented outcomes, PKU, Core outcome sets, Resource use, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf; 12 - ?

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01fe6cabe83adf0f2d22a285edb8809c
https://hdl.handle.net/1993/34530