Martina Huemer

Martina Huemer

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Martina Huemer

Martina Huemer

Publications by authors named "Martina Huemer"

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Early onset facioscapulohumeral muscular dystrophy - Long-term follow-up of a patient with total facial diplegia.

Neuromuscul Disord 2019 12 1;29(12):973-976. Epub 2019 Oct 1.

Institute for Human Genetics, University of Würzburg, Germany.

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http://dx.doi.org/10.1016/j.nmd.2019.09.015DOI Listing
December 2019

The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways.

J Inherit Metab Dis 2019 07 13;42(4):686-705. Epub 2019 Feb 13.

Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland.

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http://dx.doi.org/10.1002/jimd.12012DOI Listing
July 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 03 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

-Related Mitochondrial DNA Depletion Syndrome 13 (MTDPS13): A Case Report With a Comprehensive Mutation Review.

Front Genet 2019 5;10:39. Epub 2019 Feb 5.

Division of Pediatric Neurology, Department of Pediatrics, American University of Beirut Medical Center, Beirut, Lebanon.

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http://dx.doi.org/10.3389/fgene.2019.00039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6370620PMC
February 2019

The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders.

J Inherit Metab Dis 2018 07 8;41(4):689-698. Epub 2018 Mar 8.

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

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http://dx.doi.org/10.1007/s10545-018-0157-4DOI Listing
July 2018

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Hum Mutat 2016 May 18;37(5):427-38. Epub 2016 Mar 18.

Division of Metabolism and Children's Research Center, University Children's Hospital, Zürich, CH-8032, Switzerland.

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http://dx.doi.org/10.1002/humu.22970DOI Listing
May 2016

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

J Inherit Metab Dis 2015 Nov 12;38(6):1007-19. Epub 2015 Mar 12.

Laboratory Clinical Biochemistry and Metabolism, Center for Pediatrics and Adolescent Medicine University Hospital, Freiburg, Freiburg, Germany.

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http://link.springer.com/10.1007/s10545-015-9830-z
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http://dx.doi.org/10.1007/s10545-015-9830-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626539PMC
November 2015

Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders Guidelines.

JIMD Rep 2015 18;21:65-70. Epub 2015 Feb 18.

Division of Metabolism, University Children's Hospital Zurich, 8032, Zürich, Switzerland,

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http://dx.doi.org/10.1007/8904_2014_387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470941PMC
June 2015

Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review.

Orphanet J Rare Dis 2014 Oct 25;9:159. Epub 2014 Oct 25.

Department of Psychosomatics and Psychiatry, Children's Research Center and University Children's Hospital Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1186/s13023-014-0159-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4219016PMC
October 2014

Stereotactic radiofrequency ablation for liver tumors in inherited metabolic disorders.

Cardiovasc Intervent Radiol 2014 Aug 23;37(4):1027-33. Epub 2013 Oct 23.

Department of Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Anichstrasse 35, 6020, Innsbruck, Austria,

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http://dx.doi.org/10.1007/s00270-013-0756-2DOI Listing
August 2014

Revised recommendations for the management of Gaucher disease in children.

Eur J Pediatr 2013 Apr 8;172(4):447-58. Epub 2012 Jul 8.

Children's Hospital of Philadelphia, University of Pennsylvania, 9th Floor, Colket Translational Research Building, Civic Center Blvd, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1007/s00431-012-1771-zDOI Listing
April 2013

Low levels of asymmetric dimethylarginine in children with diabetes mellitus type I compared with healthy children.

J Pediatr 2011 Apr 12;158(4):602-606.e1. Epub 2010 Nov 12.

Department of Pediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria.

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http://dx.doi.org/10.1016/j.jpeds.2010.09.058DOI Listing
April 2011

Compliance to clinical guidelines determines outcome in glutaric aciduria type I in the era of newborn screening.

Klin Padiatr 2010 Jan-Feb;222(1):35-7. Epub 2010 Jan 18.

Department of Pediatrics, University Teaching Hospital, Landeskrankenhaus, Feldkirch, Austria.

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http://dx.doi.org/10.1055/s-0029-1239525DOI Listing
April 2010

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation.

Arch Dis Child 2010 Apr;95(4):296-301

Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague, Ke Karlovu 2, 128 08 Prague 2, Czech Republic.

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http://dx.doi.org/10.1136/adc.2009.168096DOI Listing
April 2010

Homocysteine, folate and vitamin B12 in neuropsychiatric diseases: review and treatment recommendations.

Expert Rev Neurother 2009 Sep;9(9):1393-412

Paracelsus Medical University Salzburg, Clinic for Heart Surgery, OGK Institute for Applied Aminoacid and Vitamin Research, Müllner Hauptstrasse 48, A-5020 Salzburg, Austria.

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http://www.tandfonline.com/doi/full/10.1586/ern.09.75
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http://dx.doi.org/10.1586/ern.09.75DOI Listing
September 2009

Total homocysteine, B-vitamins and genetic polymorphisms in patients with classical phenylketonuria.

Mol Genet Metab 2008 May 14;94(1):46-51. Epub 2008 Jan 14.

Department of Pediatrics, Landeskrankenhaus (LKH) Bregenz, Carl Pedenz Str. 2, 6900 Bregenz, Austria.

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http://dx.doi.org/10.1016/j.ymgme.2007.12.001DOI Listing
May 2008

Risk factors for pediatric stroke: consequences for therapy and quality of life.

Pediatr Neurol 2007 Aug;37(2):121-6

Department of Pediatrics, Academic Teaching Hospital, Landeskrankenhaus Feldkirch, Feldkirch, Austria.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.04.005DOI Listing
August 2007

Hyperhomocysteinemia in children treated with antiepileptic drugs is normalized by folic acid supplementation.

Epilepsia 2005 Oct;46(10):1677-83

Department of Pediatrics, Academic Teaching Hospital Landeskrankenhaus (LKH), Feldkirch, Austria.

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http://dx.doi.org/10.1111/j.1528-1167.2005.00264.xDOI Listing
October 2005

Prenatal and postnatal treatment in cobalamin C defect.

J Pediatr 2005 Oct;147(4):469-72

Department of Pediatrics, Landeskrankenhaus, Feldkirch, Austria.

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http://linkinghub.elsevier.com/retrieve/pii/S002234760500349
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http://dx.doi.org/10.1016/j.jpeds.2005.04.040DOI Listing
October 2005