Stephan Rust

Stephan Rust

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Stephan Rust

Stephan Rust

Publications by authors named "Stephan Rust"

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Transient N-glycosylation abnormalities likely due to a de novo loss-of-function mutation in the delta subunit of coat protein I.

Am J Med Genet A 2019 Jul 10;179(7):1371-1375. Epub 2019 May 10.

Department of Pediatrics, University Hospital of Muenster, Muenster, Germany.

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http://dx.doi.org/10.1002/ajmg.a.61190DOI Listing
July 2019

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy.

Genet Med 2018 Feb 27;20(2):259-268. Epub 2017 Jul 27.

Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Universitätsklinikum Münster, Münster, Germany.

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http://dx.doi.org/10.1038/gim.2017.106DOI Listing
February 2018

A Mutation in the G-Protein Gene Causes Familial Sinus Node and Atrioventricular Conduction Dysfunction.

Circ Res 2017 May 20;120(10):e33-e44. Epub 2017 Feb 20.

From the Institute for Genetics of Heart Diseases, Department of Cardiology and Angiology, University Hospital Muenster, Germany (B.S., J.K., S.Z., C.F., E.S.-B., G.S., E.S.-B.); Department of Pediatric Cardiology (S.K.) and Department of General Pediatrics (S.R.), University Children's Hospital Muenster, Germany; and Institute for Physiology and Pathophysiology, Vegetative Physiology, Philipps University of Marburg, Germany (K.V., S.R., L.A.M., N.D.).

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http://dx.doi.org/10.1161/CIRCRESAHA.116.310112DOI Listing
May 2017

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Questions.

Pediatr Nephrol 2016 08 7;31(8):1281. Epub 2015 May 7.

Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149, Münster, Germany.

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http://dx.doi.org/10.1007/s00467-015-3071-0DOI Listing
August 2016

Congenital nephrotic syndrome with dysmorphic features and death in early infancy: Answers.

Pediatr Nephrol 2016 08 9;31(8):1283-6. Epub 2015 May 9.

Klinik und Poliklinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie, Universitätsklinikum Münster, Albert-Schweitzer-Campus 1, Gebäude A1, 48149, Münster, Germany.

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http://dx.doi.org/10.1007/s00467-015-3070-1DOI Listing
August 2016

News on Clinical Details and Treatment in PGM1-CDG.

JIMD Rep 2016 25;26:77-84. Epub 2015 Aug 25.

Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Münster, Germany.

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http://dx.doi.org/10.1007/8904_2015_471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580736PMC
May 2016

It Is Not Always Alcohol Abuse--A Transferrin Variant Impairing the CDT Test.

Alcohol Alcohol 2016 Mar 1;51(2):148-53. Epub 2015 Sep 1.

Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin-Allgemeine Pädiatrie, Albert Schweitzer Campus 1, Gebäude A 1, 48149 Münster, Germany

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http://dx.doi.org/10.1093/alcalc/agv099DOI Listing
March 2016

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening.

EBioMedicine 2016 Feb 22;4:170-5. Epub 2015 Dec 22.

Department of Pediatrics, University Hospital of Muenster, Albert-Schweitzer-Campus 1 Gebaeude A13, 48149 Muenster, Germany.

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http://dx.doi.org/10.1016/j.ebiom.2015.12.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4776073PMC
February 2016

Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation.

Clin Biochem 2015 Jan 8;48(1-2):11-3. Epub 2014 Oct 8.

Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie, Albert Schweitzer Campus 1, Gebäude A 1, 48149 Münster, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.clinbiochem.2014.09.022DOI Listing
January 2015

Serotonin transporter gene methylation is associated with hippocampal gray matter volume.

Hum Brain Mapp 2014 Nov 23;35(11):5356-67. Epub 2014 May 23.

Department of Psychiatry, University of Münster, Münster, Germany; Department of Psychiatry, University of Marburg, Marburg, Germany.

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http://dx.doi.org/10.1002/hbm.22555DOI Listing
November 2014

The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation.

Clin Chim Acta 2014 Sep 26;436:135-9. Epub 2014 May 26.

Universitätsklinikum Münster, Klinik und Poliklinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie, Münster, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2014.05.011DOI Listing
September 2014

3β,5α,6β-Cholestanetriol and 25-hydroxycholesterol accumulate in ATP-binding cassette transporter G1 (ABCG1)-deficiency.

Atherosclerosis 2014 Jul 1;235(1):122-9. Epub 2014 May 1.

Leibniz-Institute for Arteriosclerosis Research at The Westphalian Wilhelms-University, 48149 Muenster, Germany.

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http://dx.doi.org/10.1016/j.atherosclerosis.2014.04.023DOI Listing
July 2014

Multiple phenotypes in phosphoglucomutase 1 deficiency.

N Engl J Med 2014 05;370(21):2051-2

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http://dx.doi.org/10.1056/NEJMc1403446DOI Listing
May 2014

A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia.

Gene 2013 May 17;521(1):200-3. Epub 2013 Mar 17.

Department of Internal Medicine, Cardiology, Philipps University, D-35033 Marburg, Germany.

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http://dx.doi.org/10.1016/j.gene.2013.03.034DOI Listing
May 2013

Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.

Eur J Hum Genet 2012 Sep 14;20(9):933-7. Epub 2012 Mar 14.

Universitätsklinikum Münster, Klinik für Kinder- und Jugendmedizin - Allgemeine Pädiatrie, Münster, Germany.

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http://dx.doi.org/10.1038/ejhg.2012.36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3421121PMC
September 2012

Vascular risk factors in sudden hearing loss.

Thromb Haemost 2006 Mar;95(3):454-61

Department of Otorhinolaryngology, Head and Neck Surgery, Münster, Germany.

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http://dx.doi.org/10.1160/TH05-08-0554DOI Listing
March 2006

Impaired platelet activation in familial high density lipoprotein deficiency (Tangier disease).

J Biol Chem 2004 Aug 25;279(32):34032-7. Epub 2004 May 25.

Institut für Klinische Chemie und Laboratoriumsmedizin, Westfälische Wilhelms-Universität, D-48129 Münster, Germany.

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http://dx.doi.org/10.1074/jbc.M405174200DOI Listing
August 2004

Polyunsaturated fatty acids and acetoacetate downregulate the expression of the ATP-binding cassette transporter A1.

Diabetes 2002 Oct;51(10):2922-8

Institute of Clinical Chemistry and Laboratory Medicine, Central Laboratory, Westphalian Wilhelms-University, Münster, Germany.

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http://dx.doi.org/10.2337/diabetes.51.10.2922DOI Listing
October 2002

The mutagenically separated polymerase chain reaction is a rapid and reliable method for genotyping of the tumour necrosis factor-alpha promoter polymorphism (-308 G/A).

Clin Chim Acta 2002 Jun;320(1-2):135-8

Institute of Clinical Chemistry and Laboratory Medicine, University of Münster, Albert-Schweitzer-Strasse 33, D-48129 Münster, Germany.

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http://dx.doi.org/10.1016/s0009-8981(02)00054-2DOI Listing
June 2002

Effect of the interleukin-6 promoter polymorphism (-174 G/C) on the incidence and outcome of sepsis.

Crit Care Med 2002 Jan;30(1):32-7

Institute of Clinical Chemistry and Laboratory Medicine, University Hospital of Münster, Germany.

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http://dx.doi.org/10.1097/00003246-200201000-00005DOI Listing
January 2002