Publications by authors named "Lucia Abela"

16Publications

Postsynaptic movement disorders: clinical phenotypes, genotypes, and disease mechanisms.

J Inherit Metab Dis 2018 11 13;41(6):1077-1091. Epub 2018 Jun 13.

Molecular Neurosciences, Developmental Neuroscience, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1007/s10545-018-0205-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6326993PMC
November 2018

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

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

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

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

Pediatric papillary tumors of the pineal region: to observe or to treat following gross total resection?

Childs Nerv Syst 2013 Feb 6;29(2):307-10. Epub 2012 Oct 6.

Department of Oncology, University Children's Hospital of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s00381-012-1935-1DOI Listing
February 2013

MicroRNA-21 suppression impedes medulloblastoma cell migration.

Eur J Cancer 2011 Nov 19;47(16):2479-90. Epub 2011 Jul 19.

Oncology Department, University Children's Hospital of Zurich, Switzerland.

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http://dx.doi.org/10.1016/j.ejca.2011.06.041DOI Listing
November 2011