Publications by authors named "Marianne Rohrbach"

57Publications

Increased augmentation index in patients with Ehlers-Danlos syndrome.

BMC Cardiovasc Disord 2020 Sep 15;20(1):417. Epub 2020 Sep 15.

Department of Pulmonology, University Hospital Zurich, Rämistrasse 100, 8091, Zurich, Switzerland.

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http://dx.doi.org/10.1186/s12872-020-01684-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7493396PMC
September 2020

The novel missense mutation Met48Lys in FKBP22 changes its structure and functions.

Sci Rep 2020 01 16;10(1):497. Epub 2020 Jan 16.

Department of Biochemistry and Molecular Biology, Oregon Health & Science University, Portland, OR, USA.

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http://dx.doi.org/10.1038/s41598-019-57374-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6965642PMC
January 2020

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel Variant.

Genes (Basel) 2019 10 25;10(11). Epub 2019 Oct 25.

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

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http://dx.doi.org/10.3390/genes10110843DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895888PMC
October 2019

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clin Genet 2020 02 1;97(2):235-245. Epub 2019 Oct 1.

Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Schlieren-Zurich, Switzerland.

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http://dx.doi.org/10.1111/cge.13640DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004123PMC
February 2020

Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between - and -Kyphoscoliotic Ehlers-Danlos Syndrome.

Genes (Basel) 2019 07 8;10(7). Epub 2019 Jul 8.

Connective Tissue Unit, Division of Metabolism and Children's Research Centre, University Children's Hospital, 8032 Zürich, Switzerland.

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http://dx.doi.org/10.3390/genes10070517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678841PMC
July 2019

Obstructive Sleep Apnoea in Children and Adolescents with Ehlers-Danlos Syndrome.

Respiration 2019;97(4):284-291. Epub 2018 Nov 28.

Department of Pulmonology, University Hospital Zurich, Zurich, Switzerland,

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https://www.karger.com/Article/FullText/494328
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http://dx.doi.org/10.1159/000494328DOI Listing
August 2020

[The basics of lysosomal storage diseases].

Ther Umsch 2018 Nov;75(4):199-207

3 Universitätsspital Zürich, Klinik für Endokrinologie, Diabetologie und Klinische Ernährung, Zürich.

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https://econtent.hogrefe.com/doi/10.1024/0040-5930/a000990
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http://dx.doi.org/10.1024/0040-5930/a000990DOI Listing
November 2018

Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?

Pediatr Neurol 2017 Sep 29;74:92-96. Epub 2017 May 29.

Division of Neuropediatrics and Social Pediatrics, Department of Pediatrics, Medical Faculty, RWTH Aachen University, Aachen, Germany.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.05.017DOI Listing
September 2017

Epidemiology of mucopolysaccharidoses.

Mol Genet Metab 2017 07 26;121(3):227-240. Epub 2017 May 26.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.05.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5653283PMC
July 2017

Quantification of muscle pathology in infantile Pompe disease.

Neuromuscul Disord 2017 Feb 3;27(2):141-152. Epub 2016 Nov 3.

Department of Child Neurology, Justus Liebig University, Gießen, Germany.

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http://dx.doi.org/10.1016/j.nmd.2016.10.010DOI Listing
February 2017

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta.

Orphanet J Rare Dis 2015 Aug 27;10:104. Epub 2015 Aug 27.

Division of Metabolism, Connective Tissue Unit, University Children's Hospital Zurich and Children's Research Centre, Zurich, Switzerland.

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http://dx.doi.org/10.1186/s13023-015-0315-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4549897PMC
August 2015

Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta.

J Biol Chem 2015 Jul 24;290(29):17679-89. Epub 2015 May 24.

From the Division of Metabolism, Connective Tissue Unit, University Children's Hospital Zurich, Children's Research Center, 8032 Zurich, Switzerland,

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http://dx.doi.org/10.1074/jbc.M115.661025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4505018PMC
July 2015

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

Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype.

Eur J Pediatr 2015 Jan 3;174(1):105-12. Epub 2014 Oct 3.

Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt,

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http://dx.doi.org/10.1007/s00431-014-2429-9DOI Listing
January 2015

Swiss national guideline for reimbursement of enzyme replacement therapy in late-onset Pompe disease.

J Neurol 2013 Sep 8;260(9):2279-85. Epub 2013 Jun 8.

Department of Neurology, Cantonal Hospital, Rorschacherstrasse 95, 9007 St. Gallen, Switzerland.

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http://dx.doi.org/10.1007/s00415-013-6980-5DOI Listing
September 2013

Brittle cornea syndrome: recognition, molecular diagnosis and management.

Orphanet J Rare Dis 2013 May 4;8:68. Epub 2013 May 4.

Genetic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1186/1750-1172-8-68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3659006PMC
May 2013

Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome.

Proc Natl Acad Sci U S A 2012 Dec 3;109(51):E3530-8. Epub 2012 Dec 3.

Department of Nutritional Sciences, University of Wisconsin-Madison, Madison, WI 53706, USA.

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http://dx.doi.org/10.1073/pnas.1211775110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3529093PMC
December 2012

Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings.

Am J Med Genet C Semin Med Genet 2012 Aug 12;160C(3):175-89. Epub 2012 Jul 12.

Connective Tissue Unit, Division of Metabolism, University Children's Hospital and Children's Research Center, Zurich, Switzerland.

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http://dx.doi.org/10.1002/ajmg.c.31334DOI Listing
August 2012

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

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.

Eur J Hum Genet 2012 Jan 10;20(1):11-9. Epub 2011 Aug 10.

Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2011.141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3234509PMC
January 2012

CRIM-negative infantile Pompe disease: 42-month treatment outcome.

J Inherit Metab Dis 2010 Dec 30;33(6):751-7. Epub 2010 Sep 30.

Division of Metabolism, University Children's Hospital Zürich, Steinwiesstrasse 75, 8032 Zürich, Switzerland.

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http://dx.doi.org/10.1007/s10545-010-9209-0DOI Listing
December 2010

Treatment of lysosomal storage disorders : progress with enzyme replacement therapy.

Drugs 2007 ;67(18):2697-716

Division of Clinical and Metabolic Genetics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.2165/00003495-200767180-00005DOI Listing
April 2008