John J. Mitchell, M.D., M.Sc., FRCP, Endocrinologue pédiatre

Goudie C, Alayoubi A*, Tibout P, Duval M, Maranda B, Mitchell D, Mitchell JJ, Hematopoietic stem cell transplant does not prevent neurological deterioration in infants with Farber disease: Case reports and literature review. Journal of Inherited Metabolic Disease Reports,  2019;46:46–51 doi  10.1002/jmd2.12008

Steunenberg TAH F. Peeks,F I.J. Hoogeveen IJ, Mitchell JJ, H. Mundy H,  de Boer F, Lubout CMA, de Souza CF, D.A. Weinstein DA, Derks TGJ.  Safety Issues Associated with Dietary Management in Patients with Hepatic Glycogen Storage Disease, Molecular Genetics and Metabolism, 125:79-85, 2018. doi: 10.1016/j.ymgme.2018.07.004

Clarke L, Ellaway C, Foster H, Gigliani R, Goizet C, Hawley S, Jurecki E, Zhan Z, Lampe C, Martin K, McMullen S, Mitchell J, Mubarack F, Muenzer J, Sivri S, Stewart FJ, Tylki-Szymanska A, White K, Wijburg F, Understanding the early presentation of mucopolysaccharidosis: results of a systematic literature review and physician survey, Journal of Inborn Errors of Metabolism and Screening, 7:1-12, 2018. doi.org/10.1177/2326409818800346

TingleyK, Coyle D, Graham ID, Sikora L, Chakraborty P, Wilson K, Mitchell JJ, Stockler-Ipsoroglu S and Potter BK Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases, Orpahanet Journal of Rare Disease, 13, 104, 2018, doi.org/10.1186/s13023-018-0851-1

Mirchi A, Pelletier F, Tran LT, Keller S, Braverman N, Tonduti D, Vanderver A, Roncarolo F, Pizzino A, Dilenge M-E, Poulin M, Majnemer A, Sebire G, Srour M, Osterman B, Boucher R-M, Vanasse M, Rossignol E, Mitchell J, Venkateswaran S, Pohl D, Kauffman M, Schiffman R, Goizet C, Moutton S, Bernard G. Health-related quality of life for genetically determined leukoencephalopathy patients and their families, Developmental Medicine and Child Neurology, 84 21-26, 2018, doi.org/10.1016/j.pediatrneurol.2018.03.015

Hendriksz CJ,  Parini R, AlSayed MD, Raiman J, Giugliani R, Mitchell JJ, Burton BK, Norberto Guelbert N, Stewart F, Hughes DA, Matousek R, Hawley SM, Decker C, Harmatz PR.  Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study,  Molecular Genetics and Metabolism, 2018 Feb;123(2):127-134, doi.org/10.1016/j.ymgme.2017.11.015

Potter BK, Hutton B, Clifford TJ, Pallone N, Smith M, Stockler S, Barbeau P, Garritty CM, Pugliese M, Rahman A, Skidmore B, Tessier L , Tingley K, Chakraborty P, Coyle D, Greenberg CR, Korngut L, MacKenzie A, Mitchell JJ, Nichols S, Offringa M, Schulze A, Taljaard M in collaboration with the Canadian Inherited Metabolic Disease Research Network.  Establishing Core Outcome. Sets for Phenylketonuria (PKU) and Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Children: Protocol , Trials, 2017, 18:603 doi:10.1186/s13063-017-2327-3.

Berger KI, Burton BK, Lewis GD, Tarnopolsky M, Harmatz PR, Mitchell JJ, Muschol N,  Jones SA,  Sutton V,  Pastores GM, Lau H, Sparkes R, Shaywitz A^, Cardiopulmonary exercise testing reflects improved exercise capacity in response to treatment in Morquio A patients: Results of a 52 week pilot study of two different doses of Elosulfase Alfa,  JIMD reports, DOI: 10.1007/8904_2017_70.

Shapiro EG, Escolar ML, Delaney K, Mitchell JJ. Assessment of neurocognitive function in mucopolysacchardoses. Molecular Genetics and metabolism, Dec;122S:8-16. doi: 10.1016/j.ymgme.2017.09.007

Rapoport D, Mitchell John J. Pathophysiology, evaluation and management of sleep disorders in the mucopolysaccharidoses.  Molecular Genetics and Metabolism, 2017 Dec;122S:49-54 , 10.1016/j.ymgme.2017.08.008

Schuchman, E, Mitchell JJ, Solyom A. Morbidity and mortality associated with Farber disease and prospects for therapy, Expert opinion on orphan drug, published online August 2017.