Johan L K Van Hove

Johan L K Van Hove

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Johan L K Van Hove

Johan L K Van Hove

Publications by authors named "Johan L K Van Hove"

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Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.

Mol Genet Metab 2020 Mar 30;129(3):236-242. Epub 2019 Dec 30.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, RC1-N P18-4404K, 12800 East 19th Avenue, Aurora, CO 80045, USA; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, 13121 East 16th Avenue, Aurora, CO 80045, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.12.013DOI Listing
March 2020

Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease.

Neurol Genet 2019 Jun 1;5(3):e336. Epub 2019 May 1.

Department of Medical Genetics (C.N., A.K., D.S.) and Department of Pediatrics (A.K.), Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Atlanta (J. Shoffner), GA; Departments of Pediatrics (M.W.F., J.L.K.V.H.), Section of Clinical Genetics and Metabolism, University of Colorado; Department of Medical Genetics (S.H.), University of Alberta, Canada; Faculty of Kinesiology (J. Shearer), University of Calgary, Alberta, Canada; and Departments of Laboratory Medicine and Pathology (I.S.), University of Alberta, Edmonton, Canada.

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http://dx.doi.org/10.1212/NXG.0000000000000336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515941PMC
June 2019

Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.

J Inherit Metab Dis 2019 05 11;42(3):565-574. Epub 2019 Mar 11.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12059DOI Listing
May 2019

Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype.

J Inherit Metab Dis 2019 05 20;42(3):438-450. Epub 2019 Mar 20.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, Colorado.

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http://doi.wiley.com/10.1002/jimd.12072
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http://dx.doi.org/10.1002/jimd.12072DOI Listing
May 2019

COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.

Pediatr Nephrol 2018 07 10;33(7):1257-1261. Epub 2018 Apr 10.

Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital and University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1007/s00467-018-3937-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5990461PMC
July 2018

In memoriam.

J Inherit Metab Dis 2018 May 7. Epub 2018 May 7.

University of Colorado and Children's Hospital Colorado, Aurora, CO, USA.

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http://dx.doi.org/10.1007/s10545-018-0191-2DOI Listing
May 2018

Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene.

Pediatr Neurol 2018 02 28;79:e1. Epub 2017 Sep 28.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO 80045, USA.. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.09.014DOI Listing
February 2018

Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.

Hum Mutat 2017 06 20;38(6):678-691. Epub 2017 Mar 20.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular Severo Ochoa, CBM-CSIC, Departamento de Biología Molecular, Universidad Autónoma Madrid, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), IDIPAZ, Madrid, Spain.

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http://dx.doi.org/10.1002/humu.23208DOI Listing
June 2017

d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence.

Mol Genet Metab 2017 06 20;121(2):80-82. Epub 2017 Apr 20.

Bioanalytics & Biochemistry, Department of Natural Sciences, Bonn-Rhein-Sieg University of Applied Sciences, von-Liebig-Str. 20, 53359 Rheinbach, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.04.009DOI Listing
June 2017

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:

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

Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome.

Free Radic Biol Med 2016 Mar 8;92:141-151. Epub 2016 Jan 8.

Human Molecular Genetics Center and Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, 8701 Watertown Plank Road, Milwaukee, WI 53226, USA. Electronic address:

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5047058PMC
http://dx.doi.org/10.1016/j.freeradbiomed.2016.01.001DOI Listing
March 2016

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.

J Med Genet 2015 Aug 18;52(8):532-40. Epub 2015 Mar 18.

Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA Intellectual and Developmental Disabilities Research Center, University of Colorado School of Medicine, Aurora, Colorado, USA.

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http://dx.doi.org/10.1136/jmedgenet-2015-103049DOI Listing
August 2015

Clinical and biochemical characterization of four patients with mutations in ECHS1.

Orphanet J Rare Dis 2015 Jun 18;10:79. Epub 2015 Jun 18.

Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands.

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http://dx.doi.org/10.1186/s13023-015-0290-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4474341PMC
June 2015

A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms.

Mitochondrion 2013 Nov 22;13(6):656-61. Epub 2013 Sep 22.

Department of Pediatrics, University of Colorado, 13121 East 17th Avenue, Aurora, CO 80045, USA; Division of Pediatric Neurology, Oregon Health Sciences Center, 3181 SW Sam Jackson Park Rd, Portland, OR 97239, USA.

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http://dx.doi.org/10.1016/j.mito.2013.09.004DOI Listing
November 2013

Evaluation of the child with suspected mitochondrial liver disease.

J Pediatr Gastroenterol Nutr 2013 Sep;57(3):269-76

Section of Pediatric Gastroenterology, Hepatology, and Nutrition, Indiana University School of Medicine, Indianapolis, IN 46202, USA.

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http://dx.doi.org/10.1097/MPG.0b013e31829ef67aDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3810178PMC
September 2013

Impact of geographic access to care on compliance and metabolic control in phenylketonuria.

Mol Genet Metab 2013 Jan 8;108(1):13-7. Epub 2012 Oct 8.

Department of Pediatrics, University of Colorado, Education 2 South, Mailstop 8400, 13121 East 17th Avenue, Aurora, CO 80045, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.09.026DOI Listing
January 2013

Urea cycle disorders: brain MRI and neurological outcome.

Pediatr Radiol 2012 Apr 12;42(4):455-62. Epub 2011 Oct 12.

Department of Radiology, University of Colorado, 12631 E. 17th Ave., Aurora, CO 80045, USA.

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http://dx.doi.org/10.1007/s00247-011-2253-6DOI Listing
April 2012

Prediction of long-term outcome in glycine encephalopathy: a clinical survey.

J Inherit Metab Dis 2012 Mar 15;35(2):253-61. Epub 2011 Oct 15.

Department of Pediatrics, Charité Universitätsmedizin, Augustenburger Platz 1, 13353, Berlin, Germany.

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http://link.springer.com/content/pdf/10.1007/s10545-011-9398
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http://www.springerlink.com/index/H7HX72L138217417.pdf
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http://link.springer.com/10.1007/s10545-011-9398-1
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http://dx.doi.org/10.1007/s10545-011-9398-1DOI Listing
March 2012

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.

Mol Genet Metab 2011 Sep-Oct;104(1-2):48-60. Epub 2011 May 24.

Division of Biochemical Diseases, British Columbia Children's Hospital, University of British Columbia, 4480 Oak Street, Vancouver BC, Canada V6H 3V4.

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http://dx.doi.org/10.1016/j.ymgme.2011.05.014DOI Listing
January 2012

Metabolic and monogenic causes of seizures in neonates and young infants.

Mol Genet Metab 2011 Nov 17;104(3):214-30. Epub 2011 Jun 17.

Department of Pediatrics, University of Colorado, Clinical Genetics, Aurora, CO 80045, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.04.020DOI Listing
November 2011

Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-term Follow-up Study: a collaborative multi-site approach to newborn screening outcomes research.

Genet Med 2010 Dec;12(12 Suppl):S228-41

Department of Pediatrics, University of Colorado Denver, Aurora, Colorado 80045, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181fe5d50DOI Listing
December 2010

The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.

J Inherit Metab Dis 2010 Oct 3;33(5):571-81. Epub 2010 Sep 3.

Department of Pediatrics, University of Colorado Denver, Aurora, CO 80045, USA.

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http://dx.doi.org/10.1007/s10545-010-9187-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3112356PMC
October 2010

Acute nutrition management in the prevention of metabolic illness: a practical approach with glucose polymers.

Mol Genet Metab 2009 May;97(1):1-3

Department of Pediatrics, University of Colorado Denver, University of Colorado Health Sciences Center at Fitzsimmons, Mail Stop 8313, PO Box 6511, BuildingRC-1 North, Room P18-4132, Aurora, CO 80045, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.03.001DOI Listing
May 2009

Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene.

Eur J Pediatr 2008 Jul 22;167(7):771-6. Epub 2007 Sep 22.

Department of Pediatrics, The University of Colorado at Denver Health Sciences Center and The Children's Hospital, Denver, CO 80045, USA.

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http://dx.doi.org/10.1007/s00431-007-0587-8DOI Listing
July 2008

A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy.

Am J Med Genet A 2005 Aug;137(2):170-5

Center of Medical Genetics, Free University Brussels, Brussels, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.30854DOI Listing
August 2005

Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome.

Am J Med Genet A 2005 Jan;132A(2):152-8

Department of Pediatrics, University Hospital Gasthuisberg, Katholieke Universiteit Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.30430DOI Listing
January 2005

D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD).

Lancet 2003 Apr;361(9367):1433-5

Department of Paediatrics University Hospital Gasthuisberg, Katholieke Universiteit Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1016/S0140-6736(03)13105-4DOI Listing
April 2003

Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy.

Am J Med Genet 2002 Aug;111(2):195-201

Department of Pediatrics, University Hospital Gasthuisberg, Katholieke Universiteit Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.10499DOI Listing
August 2002