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437 results

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Page 1
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
Iverson R, Taljaard M, Geraghty MT, Pugliese M, Tingley K, Coyle D, Kronick JB, Wilson K, Austin V, Brunel-Guitton C, Buhas D, Butcher NJ, Chan AKJ, Dyack S, Goobie S, Greenberg CR, Jain-Ghai S, Inbar-Feigenberg M, Karp N, Kozenko M, Langley E, Lines M, Little J, MacKenzie J, Maranda B, Mercimek-Andrews S, Mhanni A, Mitchell JJ, Nagy L, Offringa M, Pender A, Potter M, Prasad C, Ratko S, Salvarinova R, Schulze A, Siriwardena K, Sondheimer N, Sparkes R, Stockler-Ipsiroglu S, Tapscott K, Trakadis Y, Turner L, Van Karnebeek C, Vandersteen A, Walia JS, Wilson BJ, Yu AC, Potter BK, Chakraborty P. Iverson R, et al. Among authors: yu ac. BMC Pediatr. 2024 Jan 13;24(1):37. doi: 10.1186/s12887-023-04393-4. BMC Pediatr. 2024. PMID: 38216926 Free PMC article.
Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.
Tingley K, Lamoureux M, Pugliese M, Geraghty MT, Kronick JB, Potter BK, Coyle D, Wilson K, Kowalski M, Austin V, Brunel-Guitton C, Buhas D, Chan AKJ, Dyack S, Feigenbaum A, Giezen A, Goobie S, Greenberg CR, Ghai SJ, Inbar-Feigenberg M, Karp N, Kozenko M, Langley E, Lines M, Little J, MacKenzie J, Maranda B, Mercimek-Andrews S, Mohan C, Mhanni A, Mitchell G, Mitchell JJ, Nagy L, Napier M, Pender A, Potter M, Prasad C, Ratko S, Salvarinova R, Schulze A, Siriwardena K, Sondheimer N, Sparkes R, Stockler-Ipsiroglu S, Trakadis Y, Turner L, Van Karnebeek C, Vallance H, Vandersteen A, Walia J, Wilson A, Wilson BJ, Yu AC, Yuskiv N, Chakraborty P; Canadian Inherited Metabolic Diseases Research Network. Tingley K, et al. Among authors: yu ac. Orphanet J Rare Dis. 2020 Apr 10;15(1):89. doi: 10.1186/s13023-020-01358-z. Orphanet J Rare Dis. 2020. PMID: 32276663 Free PMC article.
Five-month-old male with chronic diarrhea.
Barootes HC, Peebles ER, Ashok D, Ratko S, Yu AC. Barootes HC, et al. Among authors: yu ac. Paediatr Child Health. 2019 Nov 30;25(8):483-484. doi: 10.1093/pch/pxz155. eCollection 2020 Dec. Paediatr Child Health. 2019. PMID: 33354255 Free PMC article. No abstract available.
Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.
Yang JH, Friederich MW, Ellsworth KA, Frederick A, Foreman E, Malicki D, Dimmock D, Lenberg J, Prasad C, Yu AC, Anthony Rupar C, Hegele RA, Manickam K, Koboldt DC, Crist E, Choi SS, Farhan SMK, Harvey H, Sattar S, Karp N, Wong T, Haas R, Van Hove JLK, Wigby K. Yang JH, et al. Among authors: yu ac. Hum Mutat. 2022 Mar;43(3):305-315. doi: 10.1002/humu.24330. Epub 2022 Jan 19. Hum Mutat. 2022. PMID: 35026043 Free PMC article.
The diagnostic yield of genetic and metabolic investigations in syndromic and nonsyndromic patients with autism spectrum disorder, global developmental delay, or intellectual disability from a dedicated neurodevelopmental disorders genetics clinic.
Postma JK, Harrison MA, Kutcher S, Webster RJ, Cloutier M, Bourque DK, Yu AC, Carter MT. Postma JK, et al. Among authors: yu ac. Am J Med Genet A. 2024 Nov;194(11):e63791. doi: 10.1002/ajmg.a.63791. Epub 2024 Jun 20. Am J Med Genet A. 2024. PMID: 39031819
A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis.
Roussel L, Pham-Huy A, Yu AC, Venkateswaran S, Perez A, Bourdel G, Sun Y, Villavicencio ST, Bernier S, Li Y, Kazimerczak-Brunet M, Alattar R, Déry MA, Shapiro AJ, Penner J, Vinh DC. Roussel L, et al. Among authors: yu ac. J Clin Immunol. 2023 Nov;43(8):2011-2021. doi: 10.1007/s10875-023-01580-x. Epub 2023 Sep 11. J Clin Immunol. 2023. PMID: 37695435
Lucio's phenomenon in a non-endemic region: A case report.
Yu AC, Chan AR, Chow EY. Yu AC, et al. SAGE Open Med Case Rep. 2024 Dec 11;12:2050313X241304881. doi: 10.1177/2050313X241304881. eCollection 2024. SAGE Open Med Case Rep. 2024. PMID: 39665030 Free PMC article.
437 results