1. Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency. Issue 3 (31st March 2021) Authors: Ediger, Krystyna; Hicks, Anne; Siriwardena, Komudi; Joynt, Chloe Journal: BMJ case reports Issue: Volume 14:Issue 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups. Issue 1 (25th July 2015) Authors: Khangura, Sara D.; Tingley, Kylie; Chakraborty, Pranesh; Coyle, Doug; Kronick, Jonathan B.; Laberge, Anne‐Marie; Little, Julian; Miller, Fiona A; Mitchell, John J.; Prasad, Chitra; Siddiq, Shabnaz; Siriwardena, Komudi; Sparkes, Rebecca; Speechley, Kathy N.; Stockler, Sylvia; Trakadis, Yannis; Wil... Journal: Journal of inherited metabolic disease Issue: Volume 39:Issue 1(2016) Page Start: 139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics. Issue 2 (19th November 2022) Authors: Mainali, Apurba; Athey, Taryn; Bahl, Shalini; Hung, Clara; Caluseriu, Oana; Chan, Alicia; Eaton, Alison; Ghai, Shailly Jain; Kannu, Peter; MacPherson, Melissa; Niederhoffer, Karen Y.; Siriwardena, Komudi; Mercimek‐Andrews, Saadet Journal: American journal of medical genetics Issue: Volume 191:Issue 2(2023) Page Start: 510 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. (25th March 2015) Authors: Mercimek‐Mahmutoglu, Saadet; Patel, Jaina; Cordeiro, Dawn; Hewson, Stacy; Callen, David; Donner, Elizabeth J.; Hahn, Cecil D.; Kannu, Peter; Kobayashi, Jeff; Minassian, Berge A.; Moharir, Mahendranath; Siriwardena, Komudi; Weiss, Shelly K.; Weksberg, Rosanna; Snead, O. Carter Journal: Epilepsia Issue: Volume 56:issue 5(2015:May) Page Start: 707 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Experiences of caregivers of children with inherited metabolic diseases: a qualitative study. Issue 1 (December 2016) Authors: Siddiq, Shabnaz; Wilson, Brenda; Graham, Ian; Lamoureux, Monica; Khangura, Sara; Tingley, Kylie; Tessier, Laure; Chakraborty, Pranesh; Coyle, Doug; Dyack, Sarah; Gillis, Jane; Greenberg, Cheryl; Hayeems, Robin; Jain-Ghai, Shailly; Kronick, Jonathan; Laberge, Anne-Marie; Little, Julian; Mitchell, ... Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study. Issue 2 (22nd February 2022) Authors: Chow, Andrea J; Iverson, Ryan; Lamoureux, Monica; Tingley, Kylie; Jordan, Isabel; Pallone, Nicole; Smith, Maureen; Al-Baldawi, Zobaida; Chakraborty, Pranesh; Brehaut, Jamie; Chan, Alicia; Cohen, Eyal; Dyack, Sarah; Gillis, Lisa Jane; Goobie, Sharan; Graham, Ian D; Greenberg, Cheryl R; Grimshaw, J... Journal: BMJ open Issue: Volume 12:Issue 2(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians. (November 2019) Authors: Paik, Karen; Lines, Matthew A.; Chakraborty, Pranesh; Khangura, Sara D.; Latocki, Maureen; Al-Hertani, Walla; Brunel-Guitton, Catherine; Khan, Aneal; Penny, Blaine; Rockman-Greenberg, Cheryl; Rupar, C. Anthony; Sondheimer, Neal; Tarnopolsky, Mark; Tingley, Kylie; Coyle, Doug; Dyack, Sarah; Feigen... Other Names: collab. Journal: Canadian journal of neurological sciences Issue: Volume 46:Number 6(2019) Page Start: 717 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Kidney disease and organ transplantation in methylmalonic acidaemia. (11th April 2019) Authors: Noone, Damien; Riedl, Magdalena; Atkison, Paul; Avitzur, Yaron; Sharma, Ajay P; Filler, Guido; Siriwardena, Komudi; Prasad, Chitra Journal: Pediatric transplantation Issue: Volume 23:Number 4(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Outcomes of patients with cobalamin C deficiency: A single center experience. Issue 1 (8th November 2020) Authors: Bourque, Danielle K.; Mellin‐Sanchez, Lizbeth E.; Bullivant, Garrett; Cruz, Vivian; Feigenbaum, Anette; Hewson, Stacy; Raiman, Julian; Schulze, Andreas; Siriwardena, Komudi; Mercimek‐Andrews, Saadet Journal: JIMD reports Issue: Volume 57:Issue 1(2021) Page Start: 102 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Pre‐school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort matched‐comparison study. Issue 1 (27th January 2020) Authors: Jain‐Ghai, Shailly; Joffe, Ari R.; Bond, Gwen Y.; Siriwardena, Komudi; Chan, Alicia; Yap, Jason Y. K.; Hajihosseini, Morteza; Dinu, Irina A.; Acton, Bryan V.; Robertson, Charlene M. T. Journal: JIMD reports Issue: Volume 52:Issue 1(2020) Page Start: 43 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗