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899 results

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Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
Gannavarapu S, Prasad C, DiRaimo J, Napier M, Goobie S, Potter M, Chakraborty P, Karaceper M, Munoz T, Schulze A, MacKenzie J, Li L, Geraghty MT, Al-Dirbashi OY, Rupar CA. Gannavarapu S, et al. Among authors: schulze a. Mol Genet Metab. 2015 Nov;116(3):146-51. doi: 10.1016/j.ymgme.2015.08.010. Epub 2015 Aug 31. Mol Genet Metab. 2015. PMID: 26361991
Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Rahman A, Chakraborty P, Geraghty MT, Irwin J, Tessier L, Nicholls SG, Offringa M, Butcher NJ, Iverson R, Clifford TJ, Stockler S, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Ghai SJ, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Mitchell JJ, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Pugliese M, et al. Among authors: schulze a. Orphanet J Rare Dis. 2020 Jan 14;15(1):12. doi: 10.1186/s13023-019-1276-1. Orphanet J Rare Dis. 2020. PMID: 31937333 Free PMC article. Review.
Outcomes of patients with cobalamin C deficiency: A single center experience.
Bourque DK, Mellin-Sanchez LE, Bullivant G, Cruz V, Feigenbaum A, Hewson S, Raiman J, Schulze A, Siriwardena K, Mercimek-Andrews S. Bourque DK, et al. Among authors: schulze a. JIMD Rep. 2020 Nov 8;57(1):102-114. doi: 10.1002/jmd2.12179. eCollection 2021 Jan. JIMD Rep. 2020. PMID: 33473346 Free PMC article.
Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.
Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Chakraborty P, Geraghty MT, Irwin JK, Mitchell JJ, Stockler S, Nicholls SG, Offringa M, Rahman A, Tessier LA, Butcher NJ, Iverson R, Lamoureux M, Clifford TJ, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Jain Ghai S, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Pugliese M, et al. Among authors: schulze a. Pediatrics. 2021 Aug;148(2):e2020037747. doi: 10.1542/peds.2020-037747. Epub 2021 Jul 15. Pediatrics. 2021. PMID: 34266901
Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study.
Chow AJ, Iverson R, Lamoureux M, Tingley K, Jordan I, Pallone N, Smith M, Al-Baldawi Z, Chakraborty P, Brehaut J, Chan A, Cohen E, Dyack S, Gillis LJ, Goobie S, Graham ID, Greenberg CR, Grimshaw JM, Hayeems RZ, Jain-Ghai S, Jolly A, Khangura S, MacKenzie JJ, Major N, Mitchell JJ, Nicholls SG, Pender A, Potter M, Prasad C, Prosser LA, Schulze A, Siriwardena K, Sparkes R, Speechley K, Stockler S, Taljaard M, Teitelbaum M, Trakadis Y, van Karnebeek C, Walia JS, Wilson BJ, Wilson K, Potter BK. Chow AJ, et al. Among authors: schulze a. BMJ Open. 2022 Feb 22;12(2):e055664. doi: 10.1136/bmjopen-2021-055664. BMJ Open. 2022. PMID: 35193919 Free PMC article.
Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome.
Oh RY, Deshwar AR, Marwaha A, Sabha N, Tropak M, Hou H, Yuki KE, Wilson MD, Rump P, Lunsing R, Elserafy N, Chung CWT, Hewson S, Klein-Rodewald T, Calzada-Wack J, Sanz-Moreno A, Kraiger M, Marschall S, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, Dowling J, Schulze A. Oh RY, et al. Among authors: schulze a. Genet Med. 2022 Nov;24(11):2399-2407. doi: 10.1016/j.gim.2022.07.024. Epub 2022 Sep 9. Genet Med. 2022. PMID: 36083289 Free 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: schulze a. 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.
899 results