Publications by authors named "Deborah Mathis"

19Publications

LC-MS/MS method for the differential diagnosis of treatable early onset inherited metabolic epilepsies.

J Inherit Metab Dis 2020 Sep 16;43(5):1102-1111. Epub 2020 May 16.

Division of Clinical Chemistry and Biochemistry, University Children's Hospital Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1002/jimd.12244DOI Listing
September 2020

In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria.

Biochim Biophys Acta Mol Basis Dis 2020 03 23;1866(3):165622. Epub 2019 Nov 23.

Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland; radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2019.165622DOI Listing
March 2020

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

J Inherit Metab Dis 2019 07 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

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

Early biomarker response and patient preferences to oral and intramuscular vitamin B12 substitution in primary care: a randomised parallel-group trial.

Swiss Med Wkly 2017 7;147:w14421. Epub 2017 Apr 7.

Pharmaceutical Care Research Group, University of Basel, Switzerland; Institute of Laboratory Medicine, Solothurn Hospitals, Switzerland.

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http://doi.emh.ch/smw.2017.14421
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http://dx.doi.org/10.4414/smw.2017.14421DOI Listing
October 2017

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

A simple dried blood spot-method for in vivo measurement of ureagenesis by gas chromatography-mass spectrometry using stable isotopes.

Clin Chim Acta 2017 Jan 5;464:236-243. Epub 2016 Dec 5.

Division of Metabolism and Children's Research Centre (CRC), University Children's Hospital Zurich, Switzerland; Zurich Centre for Integrative Human Physiology (ZIHP) and the Neuroscience Centre Zurich (ZNZ), Zurich, Switzerland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00098981163049
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http://dx.doi.org/10.1016/j.cca.2016.11.038DOI Listing
January 2017

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.

J Biol Chem 2016 09 12;291(39):20563-73. Epub 2016 Aug 12.

From the Division of Metabolism, the Children's Research Center, the radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, 8006 Zurich, Switzerland, the Zurich Center for Integrative Human Physiology,

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5034050PMC
http://dx.doi.org/10.1074/jbc.M116.747717DOI Listing
September 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

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

LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases.

Clin Biochem 2015 Jun 25;48(9):596-602. Epub 2015 Mar 25.

Division of Clinical Chemistry and Biochemistry, Children's Research Center, University Children's Hospital Zurich, Switzerland; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.clinbiochem.2015.03.007DOI Listing
June 2015

Marketing your practice.

J Med Pract Manage 2011 Sep-Oct;27(2):110-1

Healthcare Services Group, Cowan, Gunteski & Co., PA., 40 Bey Lea Road, Suite A101, Toms River, NJ 08753, USA.

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December 2011

How to increase upfront collections, reduce patient accounts receivable, and improve your cash flow.

J Med Pract Manage 2011 May-Jun;26(6):336-8

Healthcare Services Group, Cowan, Gunteski & Co.

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August 2011

Is bigger better? The urge to merge.

J Med Pract Manage 2011 Jan-Feb;26(4):236-8

Shareholder-in-Charge-Healthcare Services Group, Cowan, Gunteski & Co., PA., 40 Bey Lea Road, Suite A101, Toms River, NJ 08753, USA.

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June 2011

Succession planning: it is not too early to begin.

J Med Pract Manage 2010 Mar-Apr;25(5):315-6

Cowan, Gunteski & Co., P.A., 40 Bey Lea Road, Suite A101, Toms River, NJ 08753, USA.

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June 2010

Employee embezzlement: a growing problem.

J Med Pract Manage 2009 Nov-Dec;25(3):146-8

Healthcare Services Group, Cowan, Gunteski & Co., Toms River, NJ 08753, USA.

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January 2011

Artificial metalloenzyme for enantioselective sulfoxidation based on vanadyl-loaded streptavidin.

J Am Chem Soc 2008 Jun 29;130(25):8085-8. Epub 2008 May 29.

Institute of Chemistry, University of Neuchâtel, Avenue Bellevaux 51, CP 158,2009 Neuchâtel, Switzerland.

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http://pubs.acs.org/doi/abs/10.1021/ja8017219
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http://dx.doi.org/10.1021/ja8017219DOI Listing
June 2008