Publications by authors named "Jeff Kobayashi"

10Publications

Intractable apnoeic seizures in a child with a deletion typically associated with Williams syndrome.

Epileptic Disord 2018 Dec;20(6):530-534

Division of Pediatric Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto.

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http://dx.doi.org/10.1684/epd.2018.1013DOI Listing
December 2018

Genetic landscape of pediatric movement disorders and management implications.

Neurol Genet 2018 Oct 26;4(5):e265. Epub 2018 Sep 26.

Division of Clinical and Metabolic Genetics (D.C., G.B., R.D.C., S.M.-A.), Department of Pediatrics, Toronto, Ontario, Canada; Department of Medical Genetics (K.S.), University of Alberta, Edmonton, Canada; Department of Pediatrics (A.E., J.K., R.D.C., S.M.-A.), University of Toronto; the Emergency Medicine Division (A.E.), Department of Paediatrics, The Hospital for Sick Children; Division of Neurology (J.K.), Department of Paediatrics, The Hospital for Sick Children,; Genetics and Genome Biology Program (R.D.C., S.M.-A.), Research Institute, The Hospital for Sick Children; and Institute of Medical Sciences (S.M.-A.), University of Toronto, Toronto, Ontario, Canada.

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http://ng.neurology.org/lookup/doi/10.1212/NXG.0000000000000
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http://dx.doi.org/10.1212/NXG.0000000000000265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167181PMC
October 2018

Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic.

Can J Neurol Sci 2018 01 16;45(1):93-96. Epub 2017 Nov 16.

1Department of Pediatrics,Division of Clinical and Metabolic Genetics,University of Toronto,Toronto,Ontario,Canada.

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http://dx.doi.org/10.1017/cjn.2017.246DOI Listing
January 2018

Severe Neutropenia and Anemia in a Child With Epilepsy and Copper Deficiency on a Ketogenic Diet.

Pediatr Neurol 2017 11 24;76:93-94. Epub 2017 Aug 24.

Division of Hematology/Oncology, Children's Hospital of Eastern Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.08.007DOI Listing
November 2017

A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability.

J Dev Behav Pediatr 2016 Apr;37(3):239-44

*Division of Developmental Paediatrics, Department of Paediatrics, University of Toronto, Toronto, ON, Canada; †Child Development Program, Holland Bloorview Kids Rehabilitation Hospital, Toronto, ON, Canada; ‡Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden; §Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; ‖Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada; ¶Department of Molecular Genetics, The University of Toronto, Toronto, ON, Canada; **Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/DBP.0000000000000262DOI Listing
April 2016

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

Epilepsia 2015 May 25;56(5):707-16. Epub 2015 Mar 25.

Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1111/epi.12954DOI Listing
May 2015

Anti-glutamic Acid decarboxylase antibody associated limbic encephalitis in a child: expanding the spectrum of pediatric inflammatory brain diseases.

J Child Neurol 2014 May 3;29(5):677-83. Epub 2013 Oct 3.

1Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1177/0883073813500527DOI Listing
May 2014

Can children with hyperlipidemia receive ketogenic diet for medication-resistant epilepsy?

J Child Neurol 2013 Apr 20;28(4):479-83. Epub 2013 Feb 20.

Department of Pediatrics, Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1177/0883073813476140DOI Listing
April 2013

Neurologic abnormalities in patients with adenosine deaminase deficiency.

Pediatr Neurol 2007 Sep;37(3):218-21

Division of Immunology & Allergy, The Hospital for Sick Children and The University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.03.011DOI Listing
September 2007

How high can we go with phenytoin?

Ther Drug Monit 2002 Jun;24(3):386-9

Division of Clinical Pharmacology and Toxicology, Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.

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http://dx.doi.org/10.1097/00007691-200206000-00010DOI Listing
June 2002