Physicians & Health Care Professionals

Caring for adults with inborn errors of metabolism (IEM) is a new frontier in medicine. Until recently, the majority of individuals with inborn errors of metabolism did not survive to adulthood. With advances in newborn screening, diet therapy and regular monitoring by health care providers with expertise in these rare disorders, survival rates and quality of life have increased dramatically. There is also an increasing awareness that many types of inborn errors of metabolism (e.g. mitochondrial diseases, defects of fatty acid oxidation, lysosomal storage disorders) may first come to medical attention as adults; sophisticated testing is required to arrive at the correct diagnosis.
The AMDC was the first freestanding clinic for adults with inborn errors of metabolism in North America when it first opened on April 1, 1999. Until then, adults with metabolic disorders were followed jointly with children, mainly at pediatric centres. Well-established Canadian clinics for adults also operate in Toronto, Calgary, Kingston, and other large centers.

The AMDC is fortunate to have staff with many areas of expertise including nurse clinicians, dietitians, psychology, social work, genetic counselling and physicians. The physicians are from diverse specialties including endocrinology, neurology, medical biochemistry, medical genetics and biochemical genetics and all of the physicians have particular interest and training in the field.
Maternal PKU
Women with PKU have a disorder of phenylalanine metabolism resulting in an elevated level of phenylalanine (and its metabolites) in the blood stream and organs. When a woman becomes pregnant, she supports her baby by sharing nutrients from her diet, as well as oxygen through the placenta and the umbilical cord. Phenylalanine, like other amino acids, can cross the placenta to the baby. As a result, the baby can have higher levels of phenylalanine in its system.

Unfortunately, we know that phenylalanine is teratogenic, which means that it disturbs normal embryological development and can result in birth defects and intellectual disability. This is why it is important for women with PKU to plan their pregnancies and establish control of phenylalanine levels before conceiving.
What are possible outcomes if phenylalanine levels are not controlled during the pregnancy?
If the fetus is exposed to high levels of phenylalanine during development, the outcomes could include:
92% with intellectual disability and global developmental delay
73% with microcephaly (small head)
40% with intrauterine growth restriction (IUGR)
12% with congenital heart defects
24% of women have spontaneous abortions


In addition, the infant can have postnatal growth restriction, abnormal neurological findings and mild dysmorphic features.
Glycogen Storage Disease
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Propionic Acidemia
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Methymalonic Aciduria
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Maple Syrup Urine Disease
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Research

Research at the Adult Metabolic Diseases clinic is focused on answering important health questions and translating findings into offering better treatment for patients with metabolic disease.
Enter the name for this tabbed section: Current Studies
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Sandra Sirrs, endocrinologist, medical director
  • Fabry Registry
  • Gaucher Registry
  • NPC Registry
  • Pompe Registry
  • Canadian Fabry Disease Initiative
Andre Mattman, medical biochemist
  • Hypertension rates in mitochondrial disease
  • Atherosclerosis rates in mito disease
Anna Lehman, medical geneticist
  • Risk of aortic root enlargement in adults with homocystinuria
  • Diagnostic yield in patients referred for possible mitochondrial disease
  • TIDEX: Exome sequencing for novel treatable causes of intellectual disability
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Michelle Mezei, neurologist
  • CPEO
  • metabolic myopathies
Gabriella Horvath, biochemical geneticist
  • serotonin levels in PKU patients
  • familial MELAS muscle MRS study
  • RNA integrity in neurological disease
  • autonomic dysfunction in myopathies
Enter the name for this tabbed section: Completed Studies
  1. Hannah-Shmouni F, Al-Sarraf A, Frohlich J, Mezei MM, Sirrs S, Mattman A. Safety of statin therapy in patients with mitochondrial diseases. J Clin Lipidol. 2013 Mar-Apr;7(2):182. doi: 10.1016/j.jacl.2012.08.003. Epub 2012 Aug 10. PubMed PMID: 23415441.
  2. Wong S, Hannah-Shmouni F, Sinclair G, Sirrs S, Dahl M, Mattman A. Acylcarnitine profile in thyroid disease. Clin Biochem. 2013 Jan;46(1-2):180-3. doi: 10.1016/j.clinbiochem.2012.10.006. Epub 2012 Oct 23. PubMed PMID: 23089106.
  3. Li M, Al-Sarraf A, Mattman A, Frohlich J. Use of once-weekly statin in combination with ezetimibe in a patient with mitochondrial disease. BMJ Case Rep. 2012 Apr 23;2012. doi:pii: bcr1220115369. 10.1136/bcr.12.2011.5369. PubMed PMID: 22604766.
  4. Lehman A, Mattman A, Sin D, Pare P, Zong Z, d'Azzo A, Campos Y, Sirrs S, Hinek A. Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly. Mol Genet Metab. 2012 May;106(1):99-103. doi:
  5. 10.1016/j.ymgme.2012.02.004. Epub 2012 Feb 8. PubMed PMID: 22386972.
  6. Yoshimitsu M, Higuchi K, Miyata M, Devine S, Mattman A, Sirrs S, Medin JA, Tei C, Takenaka T. Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: pitfalls of mutation analyses in patients with low α-galactosidase A activity. J Cardiol. 2011 May;57(3):345-53. doi: 10.1016/j.jjcc.2010.12.004. Epub 2011 Feb 17. PubMed PMID: 21333496.
  7. Scheel M, Abegg M, Lanyon LJ, Mattman A, Barton JJ. White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study. Neurology. 2011 Jan 11;76(2):201; author reply 201-2. doi: 10.1212/WNL.0b013e3181fe7341. PubMed PMID: 21220727.
  8. Scheel M, Abegg M, Lanyon LJ, Mattman A, Barton JJ. Eye movement and diffusion tensor imaging analysis of treatment effects in a Niemann-Pick Type C patient. Mol Genet Metab. 2010 Mar;99(3):291-5. doi: 10.1016/j.ymgme.2009.10.180. Epub 2009 Oct 30. PubMed PMID: 19939718.
  9. Rahalkar AR, Wang J, Sirrs S, Dimmick J, Holmes D, Urquhart N, Hegele RA, Mattman A. An unusual case of severe hypertriglyceridemia and splenomegaly. Clin Chem. 2008 Mar;54(3):606-10; discussion 610-1. doi: 10.1373/clinchem.2007.097139. PubMed PMID: 18310149.
  10. Verma P, Gelinas J, Lehman A, Stockler S, Sirrs S. Krabbe Disease – A Potentially Treatable White Matter Disorder. Neurology. 2012 Nov 6;79(19):e170-2.
  11. Lehman A, Mattman A, Sin D, Pare P, Zong Z, d’Azzo A, Campos I, Sirrs S, Hinek A. Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly. Molecular Genetics and Metabolism. 2012; 106(1):99-103.
  12. Lehman AM, Schultz KR, Poskitt K, Bjornson B, Keyes R, Waters PJ, Clarke LA, Everett R, McConnell D, Stockler S. Intracranial calcification after cord blood neonatal transplantation for Krabbe disease. Neuropediatrics. 2009; 40(4):189-91.
  13. Sirrs S, Irving J, McCauley G, Gin K, Munt B, Pastores G and Mistry P. Failure of resting echocardiography and cardiac catheterization to identify pulmonary hypertension in 2 patients with type 1 Gaucher disease. Journal of Inherited Metabolic Disease 2002;25:131-2.
  14. Mistry PK, Sirrs S, Chan A, Pritzker MR< Duffy TP, Grace ME, Meeker DP and Goldman ME. Pulmonary hypertension in type 1 Gaucher’s disease: genetic and epigenetic determinants of phenotype and response to therapy. Molecular Genetics and Metabolism. 2002;77:91-8.
  15. Sirrs S, Yoshida EM, Wong LTK, Erb SR, Chung SW, Steinbrecher UP, Scudamore CH, Hartnett C, Lillquist Y, and Davidson AGF. Orthotopic liver transplantation in a patient with carbamyl phosphate synthetase deficiency and cystic fibrosis. Paediatrics and Child Health. 2003(8):97-8.
  16. Aljabri K, Sirrs S, and Nantel S. Hypertriglyceridemia and hypercholesterolemia induced by L-asparaginase. Annals of Saudi Medicine. 2003(23);173-4.
  17. Sirrs S, Laule Cornelia , Mädler Burkhard, Brief Elana E , Tahir Sumia A , Bishop Carole, and MacKay Alex L. Normal appearing white matter in subjects with phenylketonuria: water content, myelin water fraction, and metabolite concentrations. Radiology. 2007;242:236-43.
  18. Sirrs S and Clarke JTR. Agalsidase therapy for Fabry Disease. Expert Review of Endocrinology and Metabolism. 2007 2(20:147-54.
  19. Laule C, Vavasour IM, Madler, Kolind SH, Sirrs SM, Traboulsee AL,, Moore GR W, Li D, Li DKB, and MacKay AL. MR evidence of long T2 water in pathological white matter. Journal of Magnetic Resonance Imaging. 2007;26:1117-21.
  20. Andrade JA, Waters PW, Singh RS, Levin AL, Toh BC, Vallance HD and Sirrs S. Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma α-galactosidase assay as a screening test. Clin J Am Soc Nephrol 2008 3: 139-145.
  21. Vallance H, Sirrs S, Bamforth F, and Stocker S. Newborn screening in North America – Response to Therrell et al. J Inher Metab Dis. 2008;31:777-8.
  22. Sirrs Sa, Clarke JTRd, Bichet DGb, Casey Re, Lemoine Kc, Flowerdew Gf, Sinasac DSg and West MLc Baseline characteristics of patients enrolled in the Canadian Fabry Disease Initiative. Mol Genet Metab 2010;99:367-73.
  23. Auray-Blais C, Ntwari A, Clarke JTR, Warnock DG, Oliveira JP, Young SP, Millington DS, Bichet DG, Sirrs S, West ML, Casey R, Hwu WL, Keutzer JM, Zhang K and Gagnon R. How well does urinary lyso-GB3 function as a biomarker in Fabry disease? Clinica Chimica Acta. 2010;411:1906-14.
  24. Pfeffer G, Sirrs S, Wade NK, and Mezei MM. Multisystem disorder in late-onset chronic progressive external ophthalmoplegia. Can J Neurol Sci. 2011;38:119-23.
  25. Sirrs S. The Fabrazyme shortage – a call to action for metabolic physicians. Mol Genet Metab. 2011;102:4-5.
  26. Alfadhel M and Sirrs S. Enzyme replacement therapy for Fabry disease: Some answers but more questions. Therapeutics and Clinical Risk Management. 2011;7:69-82.
  27. Yoshimitsu M, Higuchi K, Miyata M, Devine S, Mattman A, Sirrs S, Medin JA, Tei C, Takenaka T. Identification of novel mutations in the α-galactosidase A gene in patients with Fabry disease: Pitfalls of mutation analyses in patients with low α-galactosidase A activity. J Cardiol. 2011 Feb 16. [Epub ahead of print]
  28. Alfadhel M, Sirrs S, Waters PJ, Szeitz A, Struys E, Coulter-Mackie M, and Stockler-Ipsiroglu S. Variability of phenotype in two sisters with pyridoxine dependent epilepsy. Can J Neurol Sciences. 2012 (in press).
  29. Tucker T, Nelson T, Sirrs S, Roughley P, Glorieux FH, Moffatt P, Schlade-Bartusiak K, Brown L, and Rauch F. A co-occurrence of osteogenesis imperfecta type 6 and cystinosis. Am J Med Genet Part A. 2012;1-5.
  30. Lehman A, Mattman A, Sin D, Pare P, Zong Z, D’Azzo A, Campos Y, Sirrs S, and Hinek A. Emphysema in an adult with galactosialidosis is mechanistically linked to a defect in primary elastic fiber assembly. Mol Genet Metab 2012;106:99-103.
  31. Ling P, Lee DJ, Yoshida EM, and Sirrs S. Carnitine deficiency presenting with encephalopathy and hyperammonemia in a patient with chronic enteral tube feeding: a case report. Journal of Medical Case Reports. 2012;6:227.
  32. Gelinas JN, Verma P, Lehman A, Stockler A, and Sirrs S. Krabbe Disease – A Potentially Treatable White Matter Disorder. Neurology. 2012 in press.
  33. Sirrs SM, Faghfoury H, Yoshida EM, and Geberhiwot T. Barriers to transplantation in adults with inborn errors of metabolism. JIMD Reports. 2012 (in press).
  34. Hannah-Shmouni F, Al-Sarraf A, Frohlich J, Sirrs S, and Mattman A. Safety of statin therapy in patients with mitochondrial diseases. J Clin Lipidology. 2012 (in press).
  35. Wong S, Hannah-Shmouni F, Sinclair G, Sirrs S, Dahl M, and Mattman A. Acyl carnitine profiles in thyroid disease. Clin Biochem. 2012 (in press)
  36. Al-Thihli K, Sinclair G, Sirrs S, Mezei M, Nelson J and Vallance H. Performance of serum and dried blood spot acyl carnitine profiles for detection of fatty acid beta-oxidation disorders in adults with rhabdomyolysis. J Inherit Metab Dis. 2013 (published on line 8 Jan 2013).
  37. F. Hannah-Shmouni, S Sirrs, M Mezei, Paula J. Waters, and A. Mattman. Increased Prevalence of Hypertension in Young Adults with High Heteroplasmy levels of the MELAS m.3243A>G Mutation. J Inherit Metab Dis Reports. 2013 (in press).
  38. Sirrs S, Munk P, Mallinson PI, Ouellette H, Horvath G, Cooper S, Da Roza G, Rosenbaum D, O’Riley M, Nussbaumer G, Hoang LN and Lee CH. Deposits of cystine crystals in bone mimicking osteoblastic bone metastases in a patient with nephropathic cystinosis. J Inherit Metab Dis Reports. 2013 (in press).
  39. Sirrs S, Munk P, Mallinson PI, Ouellette H, Horvath G, Cooper S, Da Roza G, Rosenbaum D, O’Riley M, Nussbaumer G, Hoang LN and Lee CH. Deposits of cystine crystals in bone mimicking osteoblastic bone metastases in a patient with nephropathic cystinosis. J Inherit Metab Dis Reports. 2013 (in press).
  40. Sirrs S, Casey R, Patterson MA, McNeil C, Paquin W and Amato D. Variation in chitotriosidase values measured on simultaneous samples by two commercial laboratories. Am J Hemat. 2013 (in press).
  41. Horvath GA, Armstrong L. Report of a Fourth Individual with a Lethal Syndrome of Choanal Atresia, Athelia, Evidence of Renal Tubulopathy, and Family History of Neck Cysts. American Journal of Medical Genetics, Part A, Vol. 143A, Issue 11, pg. 1231-1235, 2007.
  42. Horvath GA, Stockler-Ipsiroglu SG, Salvarinova-Zivkovic R, Lillquist YP, Connolly M, Hyland K, Blau N, Rupar T, Waters PJ. Autosomal recessive GTP-Cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms. Molecular Genetics and Metabolism, 94, issue 1, May 2008:127-131, online published Feb 2008.
  43. Horvath GA, Davidson AGF, Stockler-Ipsiroglu SG, Lillquist YP, Waters PJ, Olpin S, Andresen BS, Palaty J, Nelson J, Vallance H. Newborn screening for MCAD Deficiency. Experience of the first three years in British Columbia, Canada. Canadian Journal of Public Health 2008 Jul-Aug; 99(4):276-80
  44. Mercimek-Mahmutoglu S, Connolly MB, Poskitt K, Horvath G, Lowry N, Salomons GS, Casey B, Sinclair G, Davis C, Jakobs C, Stockler-Ipsiroglu S. Treatment of intractable epilepsy in a female with SLC6A8 deficiency. Mol Genet Metab. 2010 Dec;101(4):409-12. Epub 2010 Aug 26.
  45. Horvath GA, Selby K, Poskitt K, Hyland K, Waters PJ, Coulter-Mackie M, Stockler-Ipsiroglu SG. Hemiplegic migraines, seizures, progressive spastic paraparesis, myelopathy, and mood disorder in siblings with low systemic serotonin: Cephalgia, 2011 Nov 31(15),1580-6. IF 4.265 (published on-line Oct 2011).
  46. Mercimek-Mahmutoglu S, Horvath G, Coulter-Mackie M, Nelson T, Waters PJ, Sargent M, Jakobs C, Stockler-Ipsiroglu S, Connolly MB. Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy. Pediatrics 2012 May;129(5):e1368-72. Apr 23 Epub ahead of print. Pm 22529283.
  47. Salvarinova R, Hartnett C, Sinclair G, Dix D, Horvath G, Lillquist Y, Stockler-Ipsiroglu S. The use of parenteral nutrition for the management of PKU patient undergoing chemotherapy for lymphoma: a case report. Mol Genet Metab 2012 Apr 105(4):671-4. Epub 2012 Jan 16.
  48. Horvath GA, Eichler F, Poskitt K, Stockler-Ipsiroglu SG. Failure of repeated cyclophosphamide pulse therapy in childhood cerebral X-linked adrenoleukodystrophy. Neuropediatrics, 2012 Feb; 43(1):48-52.
  49. Carol Hartnett, Ramona Salvarinova-Zivkovic, Eva Yap-Todos, Barbara Cheng, Alette Giezen, Gabriella Horvath, Yolanda Lillquist, Hilary Vallance, Sylvia Stockler-Ipsiroglu. Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria. Mol Genet Metab. 2013 Apr;108(4):255-8. doi: 10.1016/j.ymgme.2013.01.007. Epub 2013 Jan 23.
  50. Sirrs S, Munk P, Mallinson PI, Ouellette H, Horvath G, Cooper S, Da Roza G, Rosenbaum D, O’Riley M, Nussbaumer G, Hoang N, Lee CH. Cystinosis with Sclerotic Bone Lesions. JIMD Rep. 2013 Oct 6 [Epub ahead of print].
  51. C. D. van Karnebeek, W. S. Sly, C. J. Ross, R. Salvarinova, J. Yaplito-Lee, S. Santra, C. Shyr, G. A. Horvath, P. Eydoux, A. M. Lehman, V. Bernard, T. Newlove, H. Ukpeh, A. Chakrapani, M. A. Preece, S. Ball, J. Pitt, H. D. Vallance, M. Coulter-Mackie, H. Nguyen, L.Zhang, A. P. Bhavsar, G. Sinclair, A. Waheed, W. Wasserman, S. Stockler-Ipsiroglu. Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood. The American Journal of Human Genetics 94, 1–9, March 6, 2014
    52 Demos KM, van Karnebeek DMC, Ross JDC, Adam S, Shen Y, Zhan SH, Shyr C, Horvath G, Suri M, Fryer A, Jones JMS, Friedman MJ. A novel recurrent mutation in ATP1A3 causes CAPOS syndrome Orphanet Journal of Rare Diseases [accepted Feb 25, 2014]
  52. C van Karnebeek, G Horvath, T Murphy, J Purtzki, K Bowden, S Sirrs, CR. Honey, S Stockler. Deep brain stimulation and dantrolene for secondary dystonia in X-linked adrenoleukodystrophy. JIMD Reports [accepted Mar 5, 2014]
  53. T Bosdet, J Branov, C Selvage, M Yousefi, S Sirrs. Diet History is a Reliable Predictor of Suboptimal Docosahexaenoic Acid Levels in Adult Patients with Phenylketonuria. JIMD Reports [accepted Dec 15, 2014].
Enter the name for this tabbed section: Abstracts
  1. Sirrs S, Levin A, Tildesley H. Management of diabetic ketoacidosis at St. Paul's Hospital. Proceedings of the UBC Resident Research Day, May 1995
  2. Sirrs, S, Canning C, Toms M and Abraham J. Growth of a clinic for adults with metabolic disease: implications for resource allocation. Journal of Inherited Metabolic Disease. 2000:23(Suppl1):287.
  3. Sirrs S, Irving JA, Webber DL and Churg AM. Histological findings of pulmonary hypertension in type 1 Gaucher disease. Proceedings of the Society of Inherited Metabolic Disorders. 2001;98, Miami, Florida
  4. Madler B, Pavlovich P, Sirrs S and MacKay A. T2-relaxation and MRS measurements reveal white matter abnormalities in patients with phenylketonuria (PKU). Proceedings of the International Society for Magnetic Resonance in Medicine, May 18-24, 2002. 2002;10:1285.
  5. Sirrs SM, O’Riley MK, Verduyn I, Bosdet T, Canning C and Jeske D. Benefits of group education for caregivers of previously untreated adults with phenylketonuria. J Inher Metab Dis. 2002;25(Suppl1):11
  6. Sirrs S, Verduyn I, O’Riley M, Howson A, Jeske D., and Bosdet T. Use of arginine-free amino acid tablets for gyrate atrophy. . J Inher Metab Dis. 2002;25(Suppl1):30
  7. Sirrs SM, Levy RD, and Mistry PK. Long-term survival in a patient with Gaucher disease and severe pulmonary hypertension treated with imiglucerase and epoprostenol. . J Inher Metab Dis. 2002;25(Suppl1):109.
  8. Madler B, MacKay AL, Bishop C, Mezei M, O’Riley M and Sirrs S. Brain myelin water fraction measurements in patients with phenylketonuria. J Inher Metab Dis. 2003;26(Suppl 2):31.
  9. Sirrs S, Verduyn I, Walshaw N, O”Riley M, Abraham J, Bosdet T, Dixon C and Howson A. Results of a patient satisfaction survey for an adult-only metabolic diseases clinic. J Inher Metab Dis. 2003;26Osuppl2):227.
  10. Sirrs S, Mattman A, Nussbaumer G, Mezei M, Bateman L, Borgen I, Vallance H. Utility of the revised diagnostic criteria for the diagnosis of mitochondrial disease in an adult population. Neurology 2004; 62 Supp 5:A30-31.
  11. Sirrs S, Verduyn I, Dixon C, Abraham J, O’Riley M, Bosdet T, Howson A. Is medical formula for stable adult UCD practical? J Inher Metab Dis. 2004;27(Suppl1):42.
  12. Sirrs S, Mattman A, Nussbaumer G, Mezei M, Bateman L, Vallance H. Milder defects in respiratory chain activity may still be significant findings in the diagnosis of respiratory chain disease. J Inher Metab Disease. 2004;27(Suppl1):112.
  13. Verduyn I, Bosdet T, Selvage C, O’Riley M and Sirrs S. Reduced HDL levels in adult patient with phenylketonuria. J Inherit Metab Dis. 2005;28(Suppl1):19.
  14. Sirrs S, Waters PJ, and Vallance H. Incidental diagnosis of respiratory chain disease in diaphragmatic muscle in a patient with normal quadriceps muscle biopsy. J Inherit Metab Dis. 2005;28(Suppl1):131.
  15. Sirrs S and Nussbaumer G. Evidence supporting ERT for Fabry disease is less rigorous than evidence available for other types of rare kidney diseases. J Inherit Metab Dis. 2005;28(Suppl1):165.
  16. Verduyn I, Bosdet T, Selvage C, O’Riley M and Sirrs S. Reduced HDL levels in adult patient with phenylketonuria. J Inherit Metab Dis. 2005;28(Suppl1):19.
  17. Sirrs S, Waters PJ, and Vallance H. Incidental diagnosis of respiratory chain disease in diaphragmatic muscle in a patient with normal quadriceps muscle biopsy. J Inherit Metab Dis. 2005;28(Suppl1):131.
  18. Sirrs S and Nussbaumer G. Evidence supporting ERT for Fabry disease is less rigorous than evidence available for other types of rare kidney diseases. J Inherit Metab Dis. 2005;28(Suppl1):165.
  19. Sirrs SM, Bichet D, Casey R, Clarke JTR, Clarke L, Moore D and West M. The Canadian Fabry Disease Initiative. J Inherit Metab Dis. 2007;30(Suppl 1):104.
  20. Sirrs SM, Nussbaumer GR, Rosen A, and Paquin W. Hyperthyroidism causing metabolic deterioration in galactosemia. J Inherit Metab Dis. 2007;30(Suppl1):55.
  21. Sirrs SM, Casey R, Clarke JTR, Bichet DG, Lemoine K and West, ML. Baseline characteristics of patients in the Canadian Fabry Disease Initiative. J Inherit Met Dis. 2008;31(Supp1):120.
  22. Sirrs SM, West ML, Flowerdew G, Lemoine K, Bichet D, Casey R, Clarke JTR, Auray-Blais C. The Canadian Fabry disease initiative: a randomized controlled trial of agalsidase therapy in Fabry disease. Mol Genet Metab. 2009;98:Abstract 105.
  23. Laule C, Baedler B, Vavasour IM, Aul R, Li DKB, MacKay AL and Sirrs SM. Adult onset Krabbe disease: what we can learn from advanced magnetic resonance imaging. Mol Genet Metab. 2009;98:Abstract 353.
  24. Aul RB, Laule C, Sharp M, and Sirrs SM. Hematopoietic stem-cell transplantation in a case of adult-onset Krabbe disease: first report in the literature. Mol Genet Metab. 2009;98:Abstract 369.
  25. Waters PJ, Koehn D, Wong LJ, Sirrs SM, Sinclair GB, Mattman A, Mezei M, Struys E, Selby K, Stockler-Ipsiroglu S, Clarke LA and Vallance HD> Highly variable phenotypic expression of the mitochondrial DNA mutation 3697G>A causing complex 1 deficiency in an extended family. Mol Genet Metab. 2009;98:Abstract 490.
  26. West M, LeMoine K, Bichet D, Clarke J, Casey R, Sirrs S, Auray-Blais C, Sinasac D, Flowerdew G. A Randomized Controlled Trial of Enzyme Replacement Therapy in Fabry Disease: The Canadian Fabry Disease Initiative at Year Three. Mol Genet Metab;99(2):39, 2010.
  27. West M, LeMoine K, Bichet D, Clarke J, Casey R, Sirrs S, Auray-Blais C, Sinasac D, Flowerdew G. A Randomized Controlled Trial of Enzyme Replacement Therapy in Fabry Disease: The Canadian Fabry Disease Initiative at Year Three. Mol Genet Metab;99(2):39, 2010.
  28. West M, Flowerdew G, LeMoine K, Bichet D, Casey R, Clarke J, Sirrs S, Auray-Blais C. The Canadian Fabry disease Initiative: a randomized controlled trial of agalsidase therapy in Fabry nephropathy. International Journal of Clinical Pharmacology and Therapeutics; 48 Supplement 1: S51, 2010.
  29. Sirrs SM, Bosdet T, Branov J, O’Riley M, Paquin W, Rosen A, Sharpe J and Selvage C. High prevalence of vitamin D insufficiency in galactosemic adults despite compliance with supplementation. J Inherit Metab Dis. 2010;33(suppl1):S64 (abstract 167).
  30. Sirrs SM, Bichet DG, Casey R, Clarke JTR, Flowerdew G, Lemoine K and West ML. Agalsidase alfa and agalsidase beta have similar effects on Fabry outcomes: Results from the Canadian Fabry Disease Initiative. J Inherit Metab Dis. 2010;33(suppl1):S126 (Abstract 396).
  31. Schrader KA, Sinclair GB, McLeod K, and Sirrs S. Optimization of pre-exercise medium-chain triglycerides supplementation by real-time monitoring in patients with LCHAD. J Inherit Metab Dis. 2011;34(Suppl3):S262.
  32. Sirrs SM, Flowerdew G, Whyte J, Lemoine K, Bichet DG, Casey R, Clarke JTR, and West ML. Rate of decline of GFR in patients with Fabry disease: prospective natural history data from the Canadian Fabry Disease Initiative. J Inherit Metab Dis. 2011;34(Suppl3):S186.
  33. Sirrs S, Lemoine K, Bichet DG,Casey R, Clarke JTR, and West ML. Rate of change of GFR and LV mass in Fabry diseease: Targets for therapeutic goals from the Canadian Fabry Disease Initiative (CFDI). J Inherit Metab Dis. 2012;35(Suppl1):S:92
  34. Sirrs SM, Faghfoury H, and Hiwot T. Barriers to transplantation in adults with inborn errors of metabolism. ). J Inherit Metab Dis. 2012;35(Suppl1):S:162
  35. West M, Bichet D, Casey R, Clarke J, Sirrs S, Flowerdew G, LeMoine K for the CFDI Investigators. Prospective Results of Switching Enzyme Replacement Therapy from Agalsidase beta to Agalsidase alfa in the Canadian Fabry Disease Initiative Study. Mol Genet Metab 105:S64-S65, 2012.
  36. West M, Bichet D, Casey R, Clarke J, Sirrs S, Flowerdew G, LeMoine K for the CFDI Investigators. Five Year Comparison of Enzyme Replacement Therapy in the Canadian Fabry Disease Initiative Study. Canadian Society Nephrology annual meeting, St. John’s NL. Apr 27-29, 2012. Garrod Association Meeting Winnipeg MB. May 3, 2012.
  37. West M, Bichet D, Casey R, Clarke J, Sirrs S, Flowerdew G, LeMoine K for the CFDI Investigators
  38. West M, Bichet D, Casey R, Clarke J, Sirrs S, Flowerdew G, LeMoine K for the CFDI Investigators. Prospective Results of Switching Enzyme Replacement Therapy from Agalsidase beta to Agalsidase alfa in the Canadian Fabry Disease Initiative Study. 8th Annual WORLD Symposium, San Diego CA USA. Feb. 8-10, 2012. Canadian Society Nephrology Annual Meeting, St. John’s NL. Apr 27-29, 2012. Garrod Association Meeting Winnipeg MB. May 3, 2012.
  39. West M, Bichet D, Casey R, Clarke J, Sirrs S, LeMoine K, Doucette S for the CFDI Investigators. Benefit of Enzyme Replacement Therapy in Fabry Disease: Comparison of Outcomes in the Canadian Fabry Disease Initiative Study. 9th Annual WORLD Symposium, Orlando FLA, USA. Feb. 13-15, 2013.
  40. West M, Bichet D, Casey R, Clarke J, Sirrs S, Auray-Blais C, Aerts J, LeMoine K, Doucette S for the CFDI Investigators. Clinical Effects of Neutralizing Anti-agalsidase Antibodies in Patients Receiving Enzyme Replacement Therapy in the Canadian Fabry Disease Initiative Study. 9th Annual WORLD Symposium, Orlando FLA, USA. Feb. 13-15, 2013.
  41. Ramachandiran N and Sirrs S. Leukodystrophy. In: Lang, Florian (Ed): Encyclopedia of Molecular Mechanisms of Disease. Berlin: Springer-Verlag 2009;1161-66.