Publications by authors named "John J Mitchell"

44Publications

Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study.

Orphanet J Rare Dis 2020 09 29;15(1):270. Epub 2020 Sep 29.

Division of Medical Genetics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, Canada.

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http://dx.doi.org/10.1186/s13023-020-01545-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7526408PMC
September 2020

Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease).

Paediatr Child Health 2019 Jul 8;24(4):270-271. Epub 2019 May 8.

Department of Neurology Paediatrics, Children's Hospital London Health Science Centre, London, Ontario.

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http://dx.doi.org/10.1093/pch/pxy153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6587424PMC
July 2019

Safety issues associated with dietary management in patients with hepatic glycogen storage disease.

Mol Genet Metab 2018 09 18;125(1-2):79-85. Epub 2018 Jul 18.

Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.07.004DOI Listing
September 2018

Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses.

Mol Genet Metab 2017 12 15;122S:8-16. Epub 2017 Sep 15.

Departments of Endocrinology and Metabolism & Medical Genetics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2017.09.007DOI Listing
December 2017

Pathophysiology, evaluation, and management of sleep disorders in the mucopolysaccharidoses.

Mol Genet Metab 2017 12 25;122S:49-54. Epub 2017 Aug 25.

Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2017.08.008DOI Listing
December 2017

Online Module for Carrier Screening in Ashkenazi Jewish Individuals Compared with In-Person Genetics Education: A Randomized Controlled Trial.

J Genet Couns 2018 04 9;27(2):426-438. Epub 2017 Aug 9.

Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1007/s10897-017-0133-4DOI Listing
April 2018

Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus.

Diagn Pathol 2017 Jan 3;12(1). Epub 2017 Jan 3.

Division of Pediatric Endocrinology Montreal Children's Hospital, McGill University Health Centre, 1001 Boulevard Decarie, Montreal, H4A 3J1, Quebec, Canada.

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http://dx.doi.org/10.1186/s13000-016-0592-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5209893PMC
January 2017

Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy.

Biochim Biophys Acta Mol Basis Dis 2017 02 1;1863(2):386-394. Epub 2016 Dec 1.

Institute of Medical Science, University of Toronto, Toronto M5G 1L7, Canada; Department of Medical Biophysics, University of Toronto, Toronto M5G 1L7, Canada; University Health Network, Toronto M5G 1L7, Canada; Medical College of Wisconsin, Milwaukee, WI 53226, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2016.11.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7192210PMC
February 2017

UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses.

Anal Chim Acta 2016 Sep 2;936:139-48. Epub 2016 Jul 2.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.

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http://dx.doi.org/10.1016/j.aca.2016.06.054DOI Listing
September 2016

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.

J Mol Diagn 2016 05 2;18(3):446-453. Epub 2016 Mar 2.

Baylor Miraca Genetics Laboratories, Houston, Texas; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2016.01.002DOI Listing
May 2016

Phenylketonuria Scientific Review Conference: state of the science and future research needs.

Mol Genet Metab 2014 Jun 6;112(2):87-122. Epub 2014 Mar 6.

The Young Face, Facial Plastic and Reconstructive Surgery, Cumming, GA 30041, USA. Electronic address:

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https://www.team-share.net/Phenylketonuria_Scientific_Review
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http://linkinghub.elsevier.com/retrieve/pii/S109671921400085
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http://dx.doi.org/10.1016/j.ymgme.2014.02.013DOI Listing
June 2014

The findings of the Dartmouth Atlas Project: a challenge to clinical and ethical excellence in end-of-life care.

Authors:
John J Mitchell

J Clin Ethics 2011 ;22(3):267-76

Department of Biomedical Ethics, School of Health and Medical Sciences, Seton Hall University, South Orange, New Jersey, USA.

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January 2012

Phenylalanine hydroxylase deficiency.

Genet Med 2011 Aug;13(8):697-707

Department of Medical Genetics, McGill University Health Center, Montreal, Canada.

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http://dx.doi.org/10.1097/GIM.0b013e3182141b48DOI Listing
August 2011

End-of-Life Issues for the Oral and Maxillofacial Surgeon.

Oral Maxillofac Surg Clin North Am 2010 Nov;22(4):519-25

Department of Oral and Maxillofacial Surgery, St Joseph's Regional Medical Center, 703 Main Street, Paterson, NJ 07503, USA.

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http://dx.doi.org/10.1016/j.coms.2010.07.009DOI Listing
November 2010

A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism.

Mol Genet Metab 2008 Sep-Oct;95(1-2):11-6. Epub 2008 Aug 12.

Division of Medical Genetics, Department of Pediatrics, A-608, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.ymgme.2008.07.001DOI Listing
November 2008

Patient expectations of full-body CT screening.

AJR Am J Roentgenol 2007 Mar;188(3):W297-304

Department of Professional Development & Continuing Medical Education, JFK Medical Center, 65 James St., Edison, NJ 08818, USA.

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http://dx.doi.org/10.2214/AJR.06.0062DOI Listing
March 2007

Tetrahydrobiopterin-responsive phenylketonuria: the New South Wales experience.

Mol Genet Metab 2005 Dec 8;86 Suppl 1:S81-5. Epub 2005 Aug 8.

Department of Genetics, Montreal Children's Hospital, Montreal, Canada H3H 1P3.

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http://dx.doi.org/10.1016/j.ymgme.2005.06.008DOI Listing
December 2005

Molecular mechanism of insulin-induced degradation of insulin receptor substrate 1.

Mol Cell Biol 2002 Feb;22(4):1016-26

Endocrinology Division, University of Vermont College of Medicine, Burlington, Vermont 05405, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC134643PMC
http://dx.doi.org/10.1128/mcb.22.4.1016-1026.2002DOI Listing
February 2002

Residents' desire for more clinical ethics education.

Authors:
John J Mitchell

Acad Med 1993 Aug:68(8)

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August 1993

The use of case studies in bioethics courses.

Authors:
John J Mitchell

J Nurs Educ 1987 Nov;20(9):31-6

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November 1987