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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: austin v. 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.
Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians' current practices.
Yuskiv N, Potter BK, Stockler S, Ueda K, Giezen A, Cheng B, Langley E, Ratko S, Austin V, Chapman M, Chakraborty P, Collet JP, Pender A; Canadian Inherited Metabolic Diseases Research Network (CIMDRN). Yuskiv N, et al. Among authors: austin v. Orphanet J Rare Dis. 2019 Jan 8;14(1):7. doi: 10.1186/s13023-018-0978-0. Orphanet J Rare Dis. 2019. PMID: 30621767 Free PMC article.
"Hypotyrosinemia" in phenylketonuria.
Hanley WB, Lee AW, Hanley AJ, Lehotay DC, Austin VJ, Schoonheyt WE, Platt BA, Clarke JT. Hanley WB, et al. Among authors: austin vj. Mol Genet Metab. 2000 Apr;69(4):286-94. doi: 10.1006/mgme.2000.2985. Mol Genet Metab. 2000. PMID: 10870846
Maternal Phenylketonuria (MPKU).
Schoonheyt WE, Hanley WB, Clarke JT, Austin V, Howe DA. Schoonheyt WE, et al. Among authors: austin v. Can Fam Physician. 1986 Oct;32:2253-8. Can Fam Physician. 1986. PMID: 21267327 Free PMC article.
Nutrition and reproductive outcome in maternal phenylketonuria.
Michals K, Acosta PB, Austin V, Castiglioni L, Rohr F, Wenz E, Azen C. Michals K, et al. Among authors: austin v. Eur J Pediatr. 1996 Jul;155 Suppl 1:S165-8. doi: 10.1007/pl00014239. Eur J Pediatr. 1996. PMID: 8828637
A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1.
Mahajnah M, Corderio D, Austin V, Herd S, Mutch C, Carter M, Struys E, Mercimek-Mahmutoglu S. Mahajnah M, et al. Among authors: austin v. Pediatr Neurol. 2016 Jul;60:60-5. doi: 10.1016/j.pediatrneurol.2016.03.008. Epub 2016 Apr 13. Pediatr Neurol. 2016. PMID: 27212567
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