J
John J. Mitchell
Researcher at McGill University
Publications - 93
Citations - 3657
John J. Mitchell is an academic researcher from McGill University. The author has contributed to research in topics: Elosulfase alfa & Population. The author has an hindex of 27, co-authored 83 publications receiving 3084 citations. Previous affiliations of John J. Mitchell include Dalhousie University & University of Manitoba.
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Journal ArticleDOI
Phenylalanine hydroxylase deficiency
TL;DR: The mainstay of treatment for hyperphenylalaninemia involves a low-protein diet and use of a phenylalanine-free medical formula and should commence as soon as possible after birth and should continue for life.
Journal ArticleDOI
Phenylalanine hydroxylase deficiency: diagnosis and management guideline.
Jerry Vockley,Hans C. Andersson,Kevin M. Antshel,Nancy Braverman,Barbara K. Burton,Dianne M. Frazier,John J. Mitchell,Wendy E. Smith,Barry H. Thompson,Susan A. Berry +9 more
TL;DR: Treatment of phenylalanine hydroxylase deficiency must be life long, with a goal of maintaining blood phenyalanine in the range of 120–360 µmol/l, and any interventions, including medications, or combination of therapies that help to achieve that goal in an individual, without other negative consequences, should be considered appropriate therapy.
Journal ArticleDOI
Rfx6 directs islet formation and insulin production in mice and humans
Stuart Smith,Hui-Qi Qu,Nadine Taleb,Nina Kishimoto,David W. Scheel,Yang Lu,Ann-Marie Patch,Rosemary Grabs,Juehu Wang,Francis C. Lynn,Francis C. Lynn,Takeshi Miyatsuka,John J. Mitchell,Rina Seerke,Julie Désir,Serge Vanden Eijnden,Marc Abramowicz,Nadine Kacet,Jacques Weill,Marie Éve Renard,Mattia Gentile,Inger Hansen,Ken Dewar,Andrew T. Hattersley,Rennian Wang,Maria E. Wilson,Jeffrey D. Johnson,Constantin Polychronakos,Michael S. German +28 more
TL;DR: It is shown that the transcription factor Rfx6 directs islet cell differentiation downstream of Neurog3, a unique position for RFX6 in the hierarchy of factors that coordinate pancreatic islet development in both mice and humans.
Journal ArticleDOI
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Kathryn M. Camp,Melissa A. Parisi,Phyllis B. Acosta,Gerard T. Berry,Deborah A. Bilder,Nenad Blau,Nenad Blau,Olaf Bodamer,Jeffrey P. Brosco,Christine Brown,Alberto Burlina,Barbara K. Burton,Christine Chang,Paul M. Coates,Amy Cunningham,Steven F. Dobrowolski,John H. Ferguson,Thomas D. Franklin,Dianne M. Frazier,Dorothy K. Grange,Carol L. Greene,Stephen C. Groft,Cary O. Harding,R. Rodney Howell,Kathleen Huntington,Henrietta D. Hyatt-Knorr,Indira Jevaji,Harvey L. Levy,Uta Lichter-Konecki,Mary Lou Lindegren,Michele A. Lloyd-Puryear,Kimberlee Michals Matalon,Anita MacDonald,Melissa L McPheeters,John J. Mitchell,Shideh Mofidi,Kathryn D. Moseley,Christine M. Mueller,Andrew E. Mulberg,Lata S. Nerurkar,Beth N. Ogata,Anne R. Pariser,Suyash Prasad,Gabriella Pridjian,Sonja A. Rasmussen,Uma M. Reddy,Frances Rohr,Rani H. Singh,Sandra Sirrs,Stephanie E. Stremer,Danilo A. Tagle,Susan Thompson,Tiina K. Urv,Jeanine Utz,Francjan J. van Spronsen,Jerry Vockley,Susan E. Waisbren,Linda S. Weglicki,Desirée A. White,Chester B. Whitley,Benjamin S. Wilfond,Steven Yannicelli,Justin M. Young +62 more
TL;DR: A coordinated approach to PKU treatment improves long-term outcomes for those with PKU and facilitates the conduct of research to improve diagnosis and treatment, and there are significant gaps in predicting response to treatment.
Journal ArticleDOI
CRTAP and LEPRE1 mutations in recessive osteogenesis imperfecta.
Dustin Baldridge,Ulrike Schwarze,Roy Morello,Jennifer Lennington,Terry Bertin,James M. Pace,Melanie Pepin,MaryAnn Weis,David R. Eyre,Jennifer M. Walsh,Deborah M. Lambert,Andrew Green,Haynes B. Robinson,Melonie Michelson,Gunnar Houge,Carl Lindman,Judith A. Martin,Jewell C. Ward,Emmanuelle Lemyre,John J. Mitchell,Deborah Krakow,David L. Rimoin,Daniel H. Cohn,Peter H. Byers,Brendan Lee,Brendan Lee +25 more
TL;DR: The range of CRTAP/LEPRE1 mutations that result in recessive OI is expanded and the importance of distinguishing recurrence of severe OI of recessive inheritance from those that result from parental germline mosaicism for COL1A1 orCOL1A2 mutations is emphasized.