Clara D van Karnebeek

Clara D van Karnebeek

UNVERIFIED PROFILE

Are you Clara D van Karnebeek?   Register this Author

Register author
Clara D van Karnebeek

Clara D van Karnebeek

Publications by authors named "Clara D van Karnebeek"

Are you Clara D van Karnebeek?   Register this Author

93Publications

3030Reads

14Profile Views

A novel classification system for research reporting in rare and progressive genetic conditions.

Dev Med Child Neurol 2019 Oct 14;61(10):1208-1213. Epub 2019 Mar 14.

Department of Pediatrics, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/dmcn.14180
Publisher Site
http://dx.doi.org/10.1111/dmcn.14180DOI Listing
October 2019

De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy.

Mol Genet Genomic Med 2019 Oct 1;7(10):e00961. Epub 2019 Sep 1.

Department of Pediatrics, Division of Biochemical Diseases, University of British Columbia, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mgg3.961DOI Listing
October 2019

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS. Reply.

N Engl J Med 2019 09;381(12):1185

Amsterdam University Medical Centers, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMc1907427DOI Listing
September 2019

Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.

Mol Genet Metab 2019 Aug 9;127(4):368-372. Epub 2019 Jul 9.

Section Metabolic Diagnostics, Department of Genetics, Utrecht University, University Medical Centre Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2019.07.001DOI Listing
August 2019

The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders.

Genet Med 2019 Aug 29. Epub 2019 Aug 29.

Collaboration for Outcomes Research and Evaluation, Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0635-6DOI Listing
August 2019

Biochemical Screening of Intellectually Disabled Patients: A Stepping Stone to Initiate a Newborn Screening Program in Pakistan.

Front Neurol 2019 17;10:762. Epub 2019 Jul 17.

Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fneur.2019.00762DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6650569PMC
July 2019

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure.

Biochim Biophys Acta Mol Basis Dis 2019 Jun 15;1865(6):1182-1191. Epub 2019 Jan 15.

Departments of Clinical Chemistry, Pediatrics and Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Gastroenterology & Metabolism, 1105 AZ Amsterdam, the Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbadis.2019.01.013DOI Listing
June 2019

Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid.

Pediatr Neurol 2019 Jun 22. Epub 2019 Jun 22.

Department of Pediatric Metabolic Diseases, Emma Children's Hospital, Amsterdam Gastro-Enterology & Metabolism Research Institute, Amsterdam University Medical Centres, Amsterdam, The Netherlands; Department of Clinical Genetics, Amsterdam University Medical Centres, Amsterdam, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2019.06.009DOI Listing
June 2019

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in .

N Engl J Med 2019 04;380(15):1433-1441

From Amsterdam University Medical Centers, University of Amsterdam, Departments of Clinical Chemistry, Pediatrics, and Clinical Genetics, Emma Children's Hospital, Amsterdam Gastroenterology and Metabolism (A.B.P.K., R.L., J.K., J. Meijer, L.A.T., M.T., M.W., R.J.A.W., H.R.W., C.D.M.K.), and United for Metabolic Diseases (A.B.P.K., R.J.A.W., H.R.W., C.D.M.K.), Amsterdam, and the Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht (J.J.F.A.V., J.H.V.), and the Project MinE ALS Sequencing Consortium (J.J.F.A.V., J.H.V.), Utrecht - all in the Netherlands; the Departments of Biochemistry and Molecular Biology and Medical Genetics, Cumming School of Medicine, and Alberta Children's Hospital Research Institute, University of Calgary, Calgary (M.T.-G.), Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute (P.A.R., M.J.J., M.S.K., J. MacIsaac, W.W.W., C.D.M.K.), the Faculty of Pharmaceutical Sciences (B.I.D., G.E.B.W., C.J.R.), and the Departments of Medical Genetics (C.M., I.-S.R.-B., W.W.W.) and Pediatrics (C.D.M.K.), University of British Columbia, Vancouver, the Zebrafish Centre for Advanced Drug Discovery, St. Michael's Hospital and University of Toronto (K.B.-A., F.K., M.L., Y.W., X.-Y.W.), the Centre for Applied Genomics, Genetics and Genome Biology, the Hospital for Sick Children (C.N., S.W.S., B.T., R.K.C.Y.), and the Department of Molecular Genetics (C.N., S.W.S., R.K.C.Y.), the McLaughlin Centre (S.W.S.), and the Departments of Medicine, Physiology, and Laboratory Medicine and Pathobiology, Institute of Medical Science (X.-Y.W.), University of Toronto, Toronto, and the Division of Medical Genetics, Department of Pediatrics, Children's Hospital Eastern Ontario, University of Ottawa, Ottawa (J.S.W., M.T.G.) - all in Canada; the Departments of Medicine and Physiology, National University of Singapore (M.A.P.), and the Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research (M.A.P., B.S., X.X., J.Z.) - both in Singapore; Uppsala University, Department of Chemistry-Biomedical Center, Uppsala, Sweden (D.D.); Illumina, San Diego, CA (E.D., M.A.E.); Gene Structure and Disease Section, Laboratory of Cell and Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD (B.H., D.K., K.U.); and the Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Birmingham, United Kingdom (S.S.).

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1806627DOI Listing
April 2019

Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era.

J Inherit Metab Dis 2019 Mar 5;42(2):197-208. Epub 2019 Feb 5.

Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jimd.12008DOI Listing
March 2019

Development and user evaluation of a rare disease gene prioritization workflow based on cognitive ergonomics.

J Am Med Inform Assoc 2019 Feb;26(2):124-133

Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
https://academic.oup.com/jamia/advance-article/doi/10.1093/j
Publisher Site
http://dx.doi.org/10.1093/jamia/ocy153DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339516PMC
February 2019

A proposed nosology of inborn errors of metabolism.

Genet Med 2019 01 8;21(1):102-106. Epub 2018 Jun 8.

Dietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41436-018-0022-8
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0022-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286709PMC
January 2019

Inborn errors of metabolism.

Handb Clin Neurol 2019 ;162:449-481

Departments of Pediatrics and Clinical Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/B978-0-444-64029-1.00022-9DOI Listing
January 2019

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions.

Front Neurol 2018 3;9:1016. Epub 2018 Dec 3.

Division of Genetics and Metabolism, Children's National Health System, Washington, DC, United States.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fneur.2018.01016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6286965PMC
December 2018

Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.

Neuroscience 2018 08 29;384:152-164. Epub 2018 May 29.

Division of Biochemical Diseases, Department of Pediatrics, B.C. Children's Hospital, University of British Columbia, Vancouver, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada; Department of Pediatrics and Clinical Genetics, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S03064522183038
Publisher Site
http://dx.doi.org/10.1016/j.neuroscience.2018.05.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679957PMC
August 2018

Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.

Hum Mutat 2018 07 10;39(7):947-953. Epub 2018 May 10.

Departments of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Pediatrics and Clinical Genetics, Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Amsterdam, the Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23538DOI Listing
July 2018

Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis.

J Inherit Metab Dis 2018 05 16;41(3):555-562. Epub 2018 Jan 16.

Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Room 3109, 950 West 28th Avenue, Vancouver, BC, V5Z 4H4, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10545-017-0125-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959948PMC
May 2018

GNAO1 Mutation-Induced Pediatric Dystonic Storm Rescue With Pallidal Deep Brain Stimulation.

J Child Neurol 2018 05;33(6):413-416

10 Division of Neurosurgery, Department of Surgery, University of British Columbia, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073818756134DOI Listing
May 2018

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.

J Inherit Metab Dis 2018 05 2;41(3):435-445. Epub 2018 May 2.

BC Children's Hospital Research Institute, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, BC, Canada.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10545-018-0139-6
Publisher Site
http://dx.doi.org/10.1007/s10545-018-0139-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959954PMC
May 2018

Please Test My Child for a Cancer Gene, but Don't Tell Her.

Pediatrics 2018 04 13;141(4). Epub 2018 Mar 13.

Children's Mercy Bioethics Center, Children's Mercy Kansas City, Kansas City, Missouri

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2017-2238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5882554PMC
April 2018

From rodent heart to inborn errors of human metabolism.

Mol Genet Metab 2018 03 5;123(3):287-288. Epub 2018 Feb 5.

Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; Department of Pediatrics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada; Department of Pediatrics, Academic Medical Centre, Amsterdam, The Netherlands; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10967192183007
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2018.02.001DOI Listing
March 2018

Evaluation of the Child With Developmental Impairments.

Continuum (Minneap Minn) 2018 Feb;24(1, Child Neurology):228-247

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/CON.0000000000000564DOI Listing
February 2018

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism.

Genet Med 2018 01 20;20(1):151-158. Epub 2017 Jul 20.

Division of Metabolism, University Children's Hospital, Zurich, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2017.108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5763153PMC
January 2018

The genotypic and phenotypic spectrum of MTO1 deficiency.

Mol Genet Metab 2018 01 15;123(1):28-42. Epub 2017 Nov 15.

Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Departments of Pediatrics and Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2017.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780301PMC
January 2018

A case of splenomegaly in CBL syndrome.

Eur J Med Genet 2017 Jul 13;60(7):374-379. Epub 2017 Apr 13.

British Columbia Children's Hospital Research Institute, Vancouver, Canada; Centre for Molecular Medicine & Therapeutics, University of British Columbia, Vancouver, Canada; Treatable Intellectual Disability Endeavour in British Columbia (TIDE-BC), Vancouver, Canada; Department of Pediatrics, University of British Columbia, Vancouver, Canada; Department of Pediatrics, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2017.04.009DOI Listing
July 2017

Molecular identification in metabolomics using infrared ion spectroscopy.

Sci Rep 2017 06 13;7(1):3363. Epub 2017 Jun 13.

Radboud University, Institute for Molecules and Materials, FELIX Laboratory, Toernooiveld 7c, 6525ED, Nijmegen, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41598-017-03387-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5469762PMC
June 2017

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

Mol Genet Metab 2017 04 6;120(4):337-341. Epub 2017 Feb 6.

Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Department of Pediatrics, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2017.02.003DOI Listing
April 2017

Impact of next-generation sequencing on diagnosis and management of neurometabolic disorders: current advances and future perspectives.

Expert Rev Mol Diagn 2017 04 20;17(4):307-309. Epub 2017 Feb 20.

c BC Children's Hospital Research Institute, Centre for Molecular Medicine and Therapeutics, Department of Pediatrics , University of British Columbia , Vancouver , Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/14737159.2017.1293527DOI Listing
April 2017

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.

Am J Med Genet A 2017 Mar;173(3):712-715

BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37621DOI Listing
March 2017

Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.

Orphanet J Rare Dis 2017 02 10;12(1):28. Epub 2017 Feb 10.

Department of Clinical Chemistry and Transfusion Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-017-0584-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5303239PMC
February 2017

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Pediatr Neurol 2017 01 13;66:59-62. Epub 2016 Sep 13.

Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington, DC. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2016.09.003DOI Listing
January 2017

Current knowledge for pyridoxine-dependent epilepsy: a 2016 update.

Expert Rev Endocrinol Metab 2017 Jan 30;12(1):5-20. Epub 2016 Dec 30.

c Department of Pediatrics, BC Children's Hospital Research Institute, Centre for Molecular Medicine and Therapeutics , University of British Columbia , Vancouver BC , Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/17446651.2017.1273107DOI Listing
January 2017

GLUT1 deficiency: progress in unraveling its genetic basis.

Dev Med Child Neurol 2016 12 29;58(12):1210-1211. Epub 2016 Jul 29.

Department of Pediatrics, BC Children's Hospital, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/dmcn.13220DOI Listing
December 2016

Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future.

Pediatr Neurol 2016 12 26;65:1-13. Epub 2016 Jul 26.

Department of Pediatrics, Rush University Medical Center, Chicago, Illinois; Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois; Department of Biochemistry, Rush University Medical Center, Chicago, Illinois. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2016.07.010DOI Listing
December 2016

Episodic ataxia associated with a de novo SCN2A mutation.

Eur J Paediatr Neurol 2016 Sep 14;20(5):772-6. Epub 2016 Jun 14.

Department of Medical Genetics, University of British Columbia, Vancouver, Canada; Child and Family Research Institute, British Columbia Children's Hospital, Vancouver, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2016.05.020DOI Listing
September 2016

A three-tier algorithm for guanidinoacetate methyltransferase (GAMT) deficiency newborn screening.

Mol Genet Metab 2016 07 7;118(3):173-7. Epub 2016 May 7.

Department of Pathology and Laboratory Medicine, Vancouver, BC, Canada; Treatable Intellectual Disability Endeavour, Vancouver, BC, Canada; British Columbia Children's Hospital, Vancouver, BC, Canada; University of British Columbia, Vancouver, BC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2016.05.002DOI Listing
July 2016

Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.

Pediatr Neurol 2016 06 11;59:6-12. Epub 2016 Jan 11.

Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada; Treatable Intellectual Disability Endeavor in British Columbia (TIDE-BC), Vancouver, British Columbia, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2015.12.013DOI Listing
June 2016

Exome Sequencing and the Management of Neurometabolic Disorders.

N Engl J Med 2016 Jun 25;374(23):2246-55. Epub 2016 May 25.

From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMoa1515792DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4983272PMC
June 2016

Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis.

Mol Genet Metab 2016 May 4;118(1):21-7. Epub 2016 Mar 4.

Centre for Molecular Medicine, Child & Family Research Institute, Vancouver, Canada; Department of Pediatrics, University of British Columbia, Canada. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S10967192163002
Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2016.03.001DOI Listing
May 2016

Dynamic software design for clinical exome and genome analyses: insights from bioinformaticians, clinical geneticists, and genetic counselors.

J Am Med Inform Assoc 2016 Mar 27;23(2):257-68. Epub 2015 Jun 27.

Centre for Molecular Medicine and Therapeutics; Child and Family Research Institute, Vancouver BC, Canada Treatable Intellectual Disability Endeavour in British Columbia (www.tidebc.org), Vancouver, Canada Department of Medical Genetics, University of British Columbia, Vancouver BC, Canada

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/jamia/ocv053DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4784553PMC
March 2016

Metabolic Diet App Suite for inborn errors of amino acid metabolism.

Mol Genet Metab 2016 Mar 23;117(3):322-7. Epub 2015 Dec 23.

Division of Biochemical Diseases, BC Children's Hospital, University of British Columbia, Vancouver, Canada; Department of Pediatrics, Centre for Molecular Medicine & Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2015.12.007DOI Listing
March 2016

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

Mol Genet Metab 2016 Jan 17;117(1):42-8. Epub 2015 Nov 17.

Division of Biochemical Diseases, Dept of Pediatrics, B.C. Children's Hospital, University of British Columbia, Vancouver, Canada; Center for Molecular Medicine and Therapeutics, Child and Family Research Institute, University of British Columbia, Vancouver, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2015.11.008DOI Listing
January 2016

Costs of caring for children with an intellectual developmental disorder.

Disabil Health J 2015 Oct 11;8(4):646-51. Epub 2015 Apr 11.

Department of Medical Genetics, University of British Columbia, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.dhjo.2015.03.011DOI Listing
October 2015

Treatment of Creatine Transporter (SLC6A8) Deficiency With Oral S-Adenosyl Methionine as Adjunct to L-arginine, Glycine, and Creatine Supplements.

Pediatr Neurol 2015 Oct 16;53(4):360-363.e2. Epub 2015 May 16.

Division of Biochemical Diseases (TIDE-BC), Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, Canada; Child and Family Research Institute, University of British Columbia, Vancouver, Canada; Department of Pediatrics, University of British Columbia, Vancouver, Canada; Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2015.05.006DOI Listing
October 2015

[Inborn errors of metabolism are not hopeless; early identification of treatable conditions in children with intellectual disability].

Ned Tijdschr Geneeskd 2014 ;158:A8042

Universiteit van British Columbia, afd. Kindergeneeskunde, Vancouver, Canada.

View Article

Download full-text PDF

Source
June 2015

Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities.

Mol Genet Metab 2015 May 9;115(1):1-9. Epub 2015 Mar 9.

Department of Pediatrics, BC Children's Hospital, Vancouver, Canada; Treatable Intellectual Disability Endeavour in British Columbia, Vancouver, Canada; Division of Biochemical Diseases, BC Children's Hospital, Vancouver, Canada; Child and Family Research Institute, Vancouver, Canada; University of British Columbia, Vancouver, Canada; Centre for Molecular Medicine and Therapeutics, Vancouver, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2015.03.001DOI Listing
May 2015

Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities.

Neurogenetics 2015 Apr 30;16(2):145-9. Epub 2014 Nov 30.

Division of Biochemical Diseases, Rm K3-201, Department of Pediatrics, B.C. Children's & Women's Hospital, 4480 Oak Street, Vancouver, BC, V6H 3 V4, Canada.

View Article

Download full-text PDF

Source
http://link.springer.com/content/pdf/10.1007/s10048-014-0432
Web Search
http://link.springer.com/10.1007/s10048-014-0432-y
Publisher Site
http://dx.doi.org/10.1007/s10048-014-0432-yDOI Listing
April 2015

Health economic evaluation of plasma oxysterol screening in the diagnosis of Niemann-Pick Type C disease among intellectually disabled using discrete event simulation.

Mol Genet Metab 2015 Feb 15;114(2):226-32. Epub 2014 Jul 15.

University of British Columbia, Vancouver, Canada; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2014.07.004DOI Listing
February 2015

Current treatment and management of pyridoxine-dependent epilepsy.

Curr Treat Options Neurol 2015 Feb;17(2):335

Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Rm K3-201, 4480 Oak Street, Vancouver, BC, V6H 3V4, Canada,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11940-014-0335-0DOI Listing
February 2015

Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases.

Mol Genet Metab 2014 Aug 29;112(4):259-74. Epub 2014 May 29.

Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, Canada; Treatable Intellectual Disability Endeavor in British Columbia (TIDE-BC), Vancouver, Canada; Centre for Molecular Medicine and Therapeutics, Vancouver, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2014.05.011DOI Listing
August 2014

Duplication of AKT3 is associated with macrocephaly and speech delay.

Am J Med Genet A 2014 Jul 3;164A(7):1868-9. Epub 2014 Apr 3.

Child and Family Research Institute, Laboratory for Obesity Genetics and Indirect Calorimetry, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada; Department of Medical Genetics, University of British Columbia and British Columbia Children's Hospital, Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36521DOI Listing
July 2014

Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders.

Semin Neurol 2014 Jul 5;34(3):350-6. Epub 2014 Sep 5.

Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0034-1386772
Publisher Site
http://dx.doi.org/10.1055/s-0034-1386772DOI Listing
July 2014

The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource.

Mol Genet Metab 2014 Apr 24;111(4):428-38. Epub 2014 Jan 24.

Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Child & Family Research Institute, University of British Columbia, Vancouver, Canada; Treatable Intellectual Disability Endeavor in British Columbia (TIDE-BC (TIDE-BC, www.tidebc.org)), Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2014.01.011DOI Listing
April 2014

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.

Am J Hum Genet 2014 Mar 13;94(3):453-61. Epub 2014 Feb 13.

Division of Biochemical Diseases, BC Children's Hospital, University of British Columbia, Vancouver, BC V6H 3V4, Canada; Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC V6H 3V4, Canada; Treatable Intellectual Disability Endeavour in British Columbia, BC Children's Hospital, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2014.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951944PMC
March 2014

The treatable intellectual disability APP www.treatable-id.org: a digital tool to enhance diagnosis & care for rare diseases.

Orphanet J Rare Dis 2012 Jul 23;7:47. Epub 2012 Jul 23.

Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1750-1172-7-47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3458980PMC
July 2012

Treatable inborn errors of metabolism causing intellectual disability: a systematic literature review.

Mol Genet Metab 2012 Mar 30;105(3):368-81. Epub 2011 Nov 30.

Division of Biochemical Diseases, Department of Pediatrics, BC Children's Hospital, Vancouver BC V6H 3V4, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2011.11.191DOI Listing
March 2012

Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation.

Dev Med Child Neurol 2011 Jun 19;53(6):565-8. Epub 2011 Apr 19.

Division of Biochemical Diseases, Department of Pediatrics, British Columbia Children's Hospital/University of British Columbia, Vancouver, BC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/j.1469-8749.2010.03907.xDOI Listing
June 2011

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.

Eur J Hum Genet 2005 Jan;13(1):6-25

Department of Paediatrics/Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201279DOI Listing
January 2005

Phenotypic abnormalities: terminology and classification.

Am J Med Genet A 2003 Dec;123A(3):211-30

Department of Pediatric Oncology/Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.20249DOI Listing
December 2003

Further delineation of the chromosome 14q terminal deletion syndrome.

Am J Med Genet 2002 Jun;110(1):65-72

Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.10207DOI Listing
June 2002