Publications by authors named "Andrea Schlune"

16Publications

Aspects of Newborn Screening in Isovaleric Acidemia.

Int J Neonatal Screen 2018 Mar 29;4(1). Epub 2018 Jan 29.

Experimental Pediatrics and Metabolism, Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich Heine University Düsseldorf, Moorenstrasse 5, 40225 Düsseldorf, Germany.

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http://dx.doi.org/10.3390/ijns4010007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7548899PMC
March 2018

Cardiometabolic risk factor clustering in patients with deficient branched-chain amino acid catabolism: A case-control study.

J Inherit Metab Dis 2020 Sep 6;43(5):981-993. Epub 2020 Apr 6.

Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

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http://dx.doi.org/10.1002/jimd.12231DOI Listing
September 2020

Dietary practices in methylmalonic acidaemia: a European survey.

J Pediatr Endocrinol Metab 2020 Jan;33(1):147-155

Birmingham Women's and Children's Hospital, Birmingham, UK.

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http://dx.doi.org/10.1515/jpem-2019-0277DOI Listing
January 2020

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.

Mol Genet Metab 2017 09 27;122(1-2):67-75. Epub 2017 Jun 27.

Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; Clinical Chemistry & Biochemistry and Children's Research Center, University Children's Hospital, Zürich, Switzerland; Bioanalytics & Biochemistry, Department of Natural Sciences, University of Applied Sciences, Rheinbach, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.06.012DOI Listing
September 2017

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.

Mol Genet Metab 2017 07 22;121(3):206-215. Epub 2017 May 22.

Department of General Pediatrics, Adolescent Medicine and Neonatology, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany; Division of Clinical Chemistry & Biochemistry and Children's Research Center, University Children's Hospital, Zürich, Switzerland; Bioanalytics & Biochemistry, Department of Natural Sciences, University of Applied Sciences, Rheinbach, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.05.014DOI Listing
July 2017

Disease control via intensified lipoprotein apheresis in three siblings with familial hypercholesterolemia.

J Clin Lipidol 2016 Nov - Dec;10(6):1303-1310. Epub 2016 Aug 20.

Pediatric Nephrology, Children's and Adolescents' Hospital, University Hospital of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1016/j.jacl.2016.08.006DOI Listing
October 2017

Malonic aciduria: long-term follow-up of new patients detected by newborn screening.

Eur J Pediatr 2014 Dec 20;173(12):1719-22. Epub 2014 Sep 20.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Heinrich-Heine-University, Moorenstr. 5, 40225, Duesseldorf, Germany,

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http://dx.doi.org/10.1007/s00431-014-2421-4DOI Listing
December 2014

Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workup.

Pediatr Nephrol 2014 Jan 19;29(1):155-9. Epub 2013 Sep 19.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Moorenstr. 5, 40225, Dusseldorf, Germany,

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http://dx.doi.org/10.1007/s00467-013-2617-2DOI Listing
January 2014

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.

Mol Genet Metab 2013 Jun 16;109(2):215-7. Epub 2013 Mar 16.

Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.03.003DOI Listing
June 2013

Liver cirrhosis in glycogen storage disease Ib.

Mol Genet Metab 2013 Mar 11;108(3):198-200. Epub 2013 Jan 11.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Heinrich Heine University, Moorenstr. 5, D-40225 Duesseldorf, Germany.

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http://dx.doi.org/10.1016/j.ymgme.2013.01.003DOI Listing
March 2013

Plugs in nuclear pores: transcripts in early oocyte development identified with nanotechniques.

J Cell Biochem 2006 Jun;98(3):567-76

Institute of Physiology II, University of Münster, Münster, Germany.

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http://dx.doi.org/10.1002/jcb.20742DOI Listing
June 2006