Barbara Plecko

Barbara Plecko

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Barbara Plecko

Barbara Plecko

Publications by authors named "Barbara Plecko"

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Neonatal Seizures-Are We there Yet?

Neuropediatrics 2019 Oct 24;50(5):280-293. Epub 2019 Jul 24.

Irish Centre for Fetal and Neonatal Translational Research (INFANT), University College Cork, Ireland.

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http://dx.doi.org/10.1055/s-0039-1693149DOI Listing
October 2019

Disorders affecting vitamin B metabolism.

J Inherit Metab Dis 2019 Jul 20;42(4):629-646. Epub 2019 Mar 20.

Genetics and Genomic Medicine, UCL GOS Institute of Child Health, London, UK.

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http://doi.wiley.com/10.1002/jimd.12060
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http://dx.doi.org/10.1002/jimd.12060DOI Listing
July 2019

New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.

J Inherit Metab Dis 2019 Jul 15;42(4):620-628. Epub 2019 Apr 15.

Division of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.

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http://doi.wiley.com/10.1002/jimd.12076
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http://dx.doi.org/10.1002/jimd.12076DOI Listing
July 2019

Prognostic Features and Long-Term Outcome in Patients with Isolated Fetal Ventriculomegaly.

Fetal Diagn Ther 2018 27;44(3):210-220. Epub 2017 Sep 27.

Clinic of Obstetrics, University Hospital Zürich, Zürich, Switzerland.

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http://dx.doi.org/10.1159/000480500DOI Listing
January 2019

Resident and Fellow Section in Neuropediatrics.

Neuropediatrics 2018 08 27;49(4):229-230. Epub 2018 Jun 27.

Department of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1055/s-0038-1666857DOI Listing
August 2018

Multiomics tools for the diagnosis and treatment of rare neurological disease.

J Inherit Metab Dis 2018 05 13;41(3):425-434. Epub 2018 Mar 13.

Division of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s10545-018-0154-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959950PMC
May 2018

Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings.

Neuropediatrics 2018 04 5;49(2):154-157. Epub 2018 Feb 5.

Division of Child Neurology, University Childreńs Hospital, Zurich, Switzerland.

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http://dx.doi.org/10.1055/s-0037-1621721DOI Listing
April 2018

Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.

Eur J Paediatr Neurol 2018 Jan 16;22(1):46-55. Epub 2017 Oct 16.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.10.003DOI Listing
January 2018

Confirmation of mutations in as a novel cause of vitamin B -dependent epilepsy.

J Med Genet 2017 12 8;54(12):809-814. Epub 2017 Apr 8.

radiz - "Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich", University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1136/jmedgenet-2017-104521DOI Listing
December 2017

founder mutation in the Roma population causes recessive variant of H-ABC.

Neurology 2017 Oct 20;89(17):1821-1828. Epub 2017 Sep 20.

From the Department of Child Neurology (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Amsterdam Neuroscience (E.M.C.H., N.I.W., T.E.M.A., M.S.v.d.K.), Department of Clinical Genetics (C.M.P., Q.W.), Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (M.S.v.d.K.), VU University and VU University Medical Center, Amsterdam, the Netherlands; Unit of Neuromuscular and Neurodegenerative Disorders (E.B., D. Diodato), Laboratory of Molecular Medicine, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy; Harry Perkins Institute of Medical Research and Centre for Medical Research (L.K., B.M.), University of Western Australia, Perth; Department of Biology (D. Dojčáková), Faculty of Humanities and Natural Sciences, University of Presov, Slovakia; Center for Neuroscience Research (J.L., J.C.), Children's Research Institute; Department of Neurology, Center for Genetic Medicine Research (A.V.), Children's National Medical Center, Washington, DC; Department of Neuroradiology (L.P.), Section of Pediatric Neuroradiology, Spedali Civili, Brescia, Italy; MRC Holland (N.L.v.d.M.), Amsterdam, the Netherlands; Division of Neurology (B.P.), Children's Hospital, University of Zurich, Switzerland; and Division of Pediatric Neuroradiology (S.B.), Hospital for Sick Children, Toronto, Canada.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000004578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664304PMC
October 2017

Horizontal Gaze Palsy in Two Brothers with Compound Heterozygous ROBO3 Gene Mutations.

Neuropediatrics 2017 Feb 26;48(1):57-58. Epub 2016 Dec 26.

Division of Pediatric Neurology, University Children's Hospital Zürich, Zürich, Switzerland.

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http://dx.doi.org/10.1055/s-0036-1597610DOI Listing
February 2017

A Message to the Readers of Neuropediatrics.

Authors:
Barbara Plecko

Neuropediatrics 2017 Feb 25;48(1):1-2. Epub 2017 Jan 25.

Division of Child Neurology, University Children's Hospital, Zurich, Switzerland.

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http://dx.doi.org/10.1055/s-0036-1597985DOI Listing
February 2017

Swiss national prospective surveillance of paediatric Mycoplasma pneumoniae-associated encephalitis.

Swiss Med Wkly 2016 11;146:w14222. Epub 2016 Jan 11.

Division of Infectious Diseases and Hospital Epidemiology, University Children's Hospital of Zurich, Switzerland; Children's Research Center (CRC); University Children's Hospital of Zurich, Switzerland.

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http://dx.doi.org/10.4414/smw.2016.14222DOI Listing
October 2016

The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies.

J Inherit Metab Dis 2016 09 24;39(5):733-741. Epub 2016 Jun 24.

Division of Child Neurology, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s10545-016-9955-8DOI Listing
September 2016

The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan Disease.

JIMD Rep 2017 14;32:51-57. Epub 2016 Jun 14.

Division of Metabolism and Children's Research Center, University Children's Hospital, Steinwiesstr. 75, 8032, Zurich, Switzerland.

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http://dx.doi.org/10.1007/8904_2016_571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5362561PMC
June 2016

N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.

J Inherit Metab Dis 2016 Jan 15;39(1):131-7. Epub 2015 Jul 15.

Division of Child Neurology, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s10545-015-9876-yDOI Listing
January 2016

A Message to the Readers of Neuropediatrics.

Neuropediatrics 2016 Jan 22;47(1):1-2. Epub 2016 Jan 22.

Prof. Emeritus, Department of Neuropediatrics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1055/s-0035-1571260DOI Listing
January 2016

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.

Neurology 2015 Sep 29;85(9):756-62. Epub 2015 Jul 29.

From the Department of Pediatrics, Division of Genetic Medicine (H.C.M., M.Z., E.G., J.C.), and the Departments of Neurology and Pediatrics, Division of Pediatric Neurology (S.M.G.), University of Washington, Seattle; the Division of Genetic Medicine (H.C.M.), Seattle Children's Hospital, WA; the Centre for Translational Omics, Genetics, and Genomic Medicine (P.T.C., P.B.M.), UCL Institute of Child Health, London, UK; the Department of Pediatrics (K.P., B.P.), Division of Child Neurology, University Hospital Graz, Austria; the Division of Child Neurology (B.P.), University Children's Hospital Zurich, University of Zurich, Switzerland; the Departments of Pediatrics and Neurology (D.R.N.), Northwestern University Feinberg School of Medicine, Evanston, IL; the Departments of Pediatrics and Neurology (D.R.N.), Ann & Robert H. Lurie Children's Hospital of Chicago, IL; and the Departments of Neurology and Pediatrics, Division of Pediatric Neurology (S.M.G.), Seattle Children's Hospital, WA.

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http://dx.doi.org/10.1212/WNL.0000000000001883DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553021PMC
September 2015

Treatable newborn and infant seizures due to inborn errors of metabolism.

Epileptic Disord 2015 Sep;17(3):229-42

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

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http://dx.doi.org/10.1684/epd.2015.0754DOI Listing
September 2015

Honorary Award of the German-Speaking Child Neurology Society - Gesellschaft für Neuropädiatrie - 2015.

Authors:
Barbara Plecko

Neuropediatrics 2015 Aug 17;46(4):233. Epub 2015 Jul 17.

Department of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1055/s-0035-1558422DOI Listing
August 2015

MED20 mutation associated with infantile basal ganglia degeneration and brain atrophy.

Eur J Pediatr 2015 Jan 3;174(1):113-8. Epub 2014 Dec 3.

Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Währinger Gürtel 18-20, 1090, Wien, Austria,

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http://dx.doi.org/10.1007/s00431-014-2463-7DOI Listing
January 2015

Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome.

Pediatr Hematol Oncol 2014 Nov 12;31(8):723-30. Epub 2014 Aug 12.

1Division of Pediatric Hematology/Oncology, University Children's Hospital, Graz, Austria.

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http://dx.doi.org/10.3109/08880018.2014.939794DOI Listing
November 2014

Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.

Neuropediatrics 2014 Aug 7;45(4):261-4. Epub 2014 Apr 7.

Division of Neurology, Department of Pediatrics, University Children's Hospital Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1055/s-0034-1372302DOI Listing
August 2014

Occasional seizures, epilepsy, and inborn errors of metabolism.

Lancet Neurol 2014 Jul;13(7):727-39

Department of Child Neurology, VU University Medical Center, Amsterdam, Netherlands; Neuroscience Campus Amsterdam, Amsterdam, Netherlands.

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http://dx.doi.org/10.1016/S1474-4422(14)70110-3DOI Listing
July 2014

Peter-Emil-Becker-Price 2013.

Authors:
Barbara Plecko

Neuropediatrics 2014 Apr 10;45(2):69. Epub 2014 Mar 10.

Department of Neuropediatrics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1055/s-0034-1371548DOI Listing
April 2014

Pyridoxine responsiveness in novel mutations of the PNPO gene.

Neurology 2014 Apr 21;82(16):1425-33. Epub 2014 Mar 21.

From the Department of Pediatrics (B.P., L.A.), Division of Child Neurology, University Hospital Zurich, Switzerland; the Department of Pediatrics (B.P.), Division of Neurology and Inborn Errors of Metabolism, Medical University Graz, Austria; radiz-"Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich" (B.P., L.A.); CRC Clinical Research Center (B.P.), University Childrens' Hospital Zurich, Switzerland; the Laboratory of Metabolic Diseases (K.P., E.P., D.H.), Department of Pediatrics, University Hospital Graz, Austria; UCL Institute of Child Health (P.M., P.C.), Clinical and Molecular Genetics Unit, London, UK; Childrens Hospital St. Gallen (O.M., O.H.), Switzerland; the Department of Pediatrics (G.H.), Klinikum Esslingen; the Department of Pediatrics (S.K.), St. Marien Hospital, Landshut, Germany; the Division of Child Neurology (M.C.) and Division of Biochemical Diseases (S.S.), Department of Pediatrics, University of British Columbia, Vancouver, Canada; the Department of Pediatrics, Division of Child Neurology (N.W.), VU University Medical Center and Neuroscience Campus Amsterdam; and the Department of Clinical Chemistry (E.S.), Vrije Universiteit Amsterdam, the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000000344DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001193PMC
April 2014

Pyridoxine and pyridoxalphosphate-dependent epilepsies.

Authors:
Barbara Plecko

Handb Clin Neurol 2013 ;113:1811-7

Department of Pediatrics, University of Zurich, Zurich, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00050-2DOI Listing
March 2014

Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report.

Neuropediatrics 2014 Feb 25;45(1):64-8. Epub 2013 Sep 25.

Department of Pediatrics, Pediatric Nephrology and Metabolism Unit, Children's Hospital, University of Geneva, Switzerland.

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http://dx.doi.org/10.1055/s-0033-1353489DOI Listing
February 2014

Fatal outcome of rhino-orbital-cerebral mucormycosis due to bilateral internal carotid occlusion in a child after hematopoietic stem cell transplantation.

Pediatr Infect Dis J 2013 Oct;32(10):1149-50

From the Departments of *Neurology, †Diagnostic Imaging and ‡Immunology, University Children's Hospital of Zurich, Zurich, Switzerland.

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https://insights.ovid.com/crossref?an=00006454-201310000-000
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http://dx.doi.org/10.1097/INF.0b013e31829e69e7DOI Listing
October 2013

Peter-Emil-Becker-Price 2012.

Authors:
Barbara Plecko

Neuropediatrics 2013 Mar 27;44(2):59. Epub 2013 Feb 27.

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http://dx.doi.org/10.1055/s-0033-1337336DOI Listing
March 2013

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

Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity?

Dev Med Child Neurol 2011 Dec 27;53(12):1150-3. Epub 2011 Jun 27.

Clinic for Paediatric Kidney, Liver, and Metabolic Disorders, Hannover Medical School, Hannover, Germany.

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http://dx.doi.org/10.1111/j.1469-8749.2011.04033.xDOI Listing
December 2011

A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.

Mol Genet Metab 2009 Nov 25;98(3):300-4. Epub 2009 Jun 25.

Department of Pediatrics, Medical University Graz, Graz, Austria.

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http://dx.doi.org/10.1016/j.ymgme.2009.06.012DOI Listing
November 2009

Metabolic epilepsies: approaches to a diagnostic challenge.

Can J Neurol Sci 2009 Aug;36 Suppl 2:S67-72

Department of Pediatrics, University of British Columbia, Vancouver, British Columbia. Canada.

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August 2009

Vitamin B6 dependent seizures.

Can J Neurol Sci 2009 Aug;36 Suppl 2:S73-7

Division of Biochemical Diseases and Cystic Fibrosis, Children's and Women's Health Center, University of British Columbia, Vancouver, BC, Canada.

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August 2009

Malignant stroke in a female adolescent (case presentation).

Acta Paediatr 2009 Jun;98(6):929-30, 1070

Department of Paediatrics, Medical University of Graz, Austria.

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http://dx.doi.org/10.1111/j.1651-2227.2008.01078.xDOI Listing
June 2009

Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

Nat Med 2006 Mar 19;12(3):307-9. Epub 2006 Feb 19.

Institute of Child Health, University College London with Great Ormond Street Hospital for Children National Health Service Trust, 30 Guilford Street, London, UK.

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http://dx.doi.org/10.1038/nm1366DOI Listing
March 2006

Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis.

Blood 2004 May 5;103(10):3915-23. Epub 2004 Feb 5.

Emma Children's Hospital, Academic Medical Centre, University of Amsterdam, the Netherlands.

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http://dx.doi.org/10.1182/blood-2003-11-3940DOI Listing
May 2004

Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

J Pediatr 2004 May;144(5):574-80

Pediatric Clinical Research Center, Children's Hospital & Research Center at Oakland, California 94606, USA.

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http://dx.doi.org/10.1016/j.jpeds.2004.03.018DOI Listing
May 2004

Mutation analysis in patients with N-acetylglutamate synthase deficiency.

Hum Mutat 2003 Jun;21(6):593-7

Universitätsklinikum Münster, Klinik und Poliklinik für Kinderheilkunde, Münster, Germany.

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http://dx.doi.org/10.1002/humu.10216DOI Listing
June 2003

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.

Hum Mutat 2003 Jun;21(6):615-21

Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology (VIB), Born-Bunge Foundation, University of Antwerp (UIA), Antwerpen, Belgium.

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http://dx.doi.org/10.1002/humu.10217DOI Listing
June 2003

Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.

J Pediatr 2002 Nov;141(5):729-33

Department of Clinical Chemistry, the Department of Pediatrics, Emma Children's Hospital, and Laboratory Neurozintuigen, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1067/mpd.2002.129174DOI Listing
November 2002