Saskia B Wortmann

Saskia B Wortmann

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Saskia B Wortmann

Saskia B Wortmann

Publications by authors named "Saskia B Wortmann"

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Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype.

J Inherit Metab Dis 2019 May 20;42(3):438-450. Epub 2019 Mar 20.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, Colorado.

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http://doi.wiley.com/10.1002/jimd.12072
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http://dx.doi.org/10.1002/jimd.12072DOI Listing
May 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 May 2;10(1):2079. Epub 2019 May 2.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-10161-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6497626PMC
May 2019

Biallelic mutations in cause developmental and epileptic encephalopathy.

Ann Clin Transl Neurol 2019 May 11;6(5):968-973. Epub 2019 Apr 11.

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/acn3.768DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6530525PMC
May 2019

Choline-related-inherited metabolic diseases-A mini review.

J Inherit Metab Dis 2019 Mar 25;42(2):237-242. Epub 2019 Jan 25.

University Childrens Hospital, Paracelsus Medical University (PMU) Salzburg, Salzburg, Austria.

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http://doi.wiley.com/10.1002/jimd.12011
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http://dx.doi.org/10.1002/jimd.12011DOI Listing
March 2019

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2019 02 15;10(1):883. Epub 2019 Feb 15.

CHU Sainte-Justine Research Center, Montreal, QC, H3T 1C5, Canada.

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http://dx.doi.org/10.1038/s41467-019-08800-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377600PMC
February 2019

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Nat Commun 2018 11 5;9(1):4619. Epub 2018 Nov 5.

CHU Sainte-Justine Research Center, Montreal, QC H3T 1C5, Canada.

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http://www.nature.com/articles/s41467-018-06014-6
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http://dx.doi.org/10.1038/s41467-018-06014-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6218476PMC
November 2018

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Orphanet J Rare Dis 2018 07 20;13(1):122. Epub 2018 Jul 20.

Department of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Lindwurmstr. 4, 80337, Munich, Germany.

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http://dx.doi.org/10.1186/s13023-018-0875-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6053800PMC
July 2018

"Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.

J Inherit Metab Dis 2018 05 25;41(3):525-532. Epub 2018 Jan 25.

Institute of Human Genetics, Technische Universität München, Trogerstrasse 32, 81675, Munich, Germany.

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http://dx.doi.org/10.1007/s10545-017-0133-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5959960PMC
May 2018

Molecular structural diversity of mitochondrial cardiolipins.

Proc Natl Acad Sci U S A 2018 04 4;115(16):4158-4163. Epub 2018 Apr 4.

Division of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria;

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http://dx.doi.org/10.1073/pnas.1719407115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910844PMC
April 2018

Biallelic Mutations in SLC1A2; an Additional Mode of Inheritance for SLC1A2-Related Epilepsy.

Neuropediatrics 2018 02 15;49(1):59-62. Epub 2017 Sep 15.

Institute of Human Genetics, Technische Universität München, Munich, Germany.

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http://dx.doi.org/10.1055/s-0037-1606370DOI Listing
February 2018

SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family.

J Med Genet 2018 01 15;55(1):39-47. Epub 2017 Sep 15.

Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, Tübingen, Baden-Württemberg, Germany.

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http://dx.doi.org/10.1136/jmedgenet-2017-104622DOI Listing
January 2018

The genotypic and phenotypic spectrum of MTO1 deficiency.

Mol Genet Metab 2018 01 15;123(1):28-42. Epub 2017 Nov 15.

Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada; Centre for Molecular Medicine and Therapeutics, Vancouver, BC, Canada; BC Children's Hospital Research Institute, University of British Columbia, Vancouver, Canada; Departments of Pediatrics and Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780301PMC
January 2018

MEGDEL Syndrome: Expanding the Phenotype and New Mutations.

Neuropediatrics 2017 10 15;48(5):382-384. Epub 2017 May 15.

Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0037-1602833
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http://dx.doi.org/10.1055/s-0037-1602833DOI Listing
October 2017

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.

Clin Chim Acta 2017 Aug 17;471:95-100. Epub 2017 May 17.

Department of Human Genetics, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum, Neuherberg, Germany; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.05.023DOI Listing
August 2017

A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era.

Neuropediatrics 2017 08 9;48(4):309-314. Epub 2017 Jun 9.

Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria.

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http://dx.doi.org/10.1055/s-0037-1603776DOI Listing
August 2017

Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

Fertil Steril 2017 07 1;108(1):168-174. Epub 2017 Jun 1.

Department of Pediatrics and Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.fertnstert.2017.05.013DOI Listing
July 2017

Treatable mitochondrial diseases: cofactor metabolism and beyond.

Brain 2017 02 19;140(2):e11. Epub 2016 Dec 19.

Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.

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http://dx.doi.org/10.1093/brain/aww303DOI Listing
February 2017

Diagnosis and Management of Drooling in Children With Progressive Dystonia: A Case Series of Patients With MEGDEL Syndrome.

J Child Neurol 2016 09 26;31(10):1220-6. Epub 2016 May 26.

Department of Paediatrics, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, Netherlands Department of Paediatrics, Salzburger Landeskliniken, Paracelsus Medical University, Salzburg, Austria.

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http://dx.doi.org/10.1177/0883073816650037DOI Listing
September 2016

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.

J Pediatr 2016 08 17;175:130-136.e8. Epub 2016 May 17.

Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA; Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.jpeds.2016.04.021DOI Listing
August 2016

High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders.

J Inherit Metab Dis 2015 May 11;38(3):477-82. Epub 2014 Oct 11.

Nijmegen Centre for Mitochondrial Disorders (NCMD) at the Amalia Children's Hospital, Radboudumc, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-014-9773-9DOI Listing
May 2015

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

J Inherit Metab Dis 2015 May 4;38(3):437-43. Epub 2015 Mar 4.

Department of Pediatrics, Radboudumc, Nijmegen Centre for Mitochondrial Disorders (NCMD), 774 Translational Metabolic Laboratory, P.O Box 9101, 6500 HB, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1007/s10545-015-9823-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432107PMC
May 2015

A novel mitochondrial DNA m.7507A>G mutation is only pathogenic at high levels of heteroplasmy.

Neuromuscul Disord 2015 Mar 13;25(3):262-7. Epub 2014 Nov 13.

Nijmegen Centre for Mitochondrial Disorders (NCMD), Amalia Children's Hospital, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.11.002DOI Listing
March 2015

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors.

Eur J Hum Genet 2015 Feb 30;23(2):202-9. Epub 2014 Apr 30.

Nijmegen Center for Mitochondrial Disorders (NCMD) at the Department of Pediatrics, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands.

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http://www.nature.com/doifinder/10.1038/ejhg.2014.80
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http://dx.doi.org/10.1038/ejhg.2014.80DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4297908PMC
February 2015

Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.

J Inherit Metab Dis 2015 Jan 2;38(1):99-110. Epub 2014 Sep 2.

Nijmegen Centre for Mitochondrial Disorders (NCMD) at the Amalia Children's Hospital, Radboudumc, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands,

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http://dx.doi.org/10.1007/s10545-014-9759-7DOI Listing
January 2015

Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect.

JIMD Rep 2014 23;16:1-6. Epub 2014 Apr 23.

Department of Pediatrics, Nijmegen Centre for Mitochondrial Disorders (NCMD), Amalia Children's Hospital, Radboud University Medical Centre, 9101, 6500 HB, Nijmegen, The Netherlands,

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http://dx.doi.org/10.1007/8904_2014_309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4221300PMC
November 2014

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.

J Inherit Metab Dis 2013 Nov 8;36(6):923-8. Epub 2013 Jan 8.

Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics, Institute of Genetic and Metabolic Disease, Nijmegen, The Netherlands,

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http://dx.doi.org/10.1007/s10545-012-9580-0DOI Listing
November 2013

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

J Inherit Metab Dis 2013 Nov 25;36(6):913-21. Epub 2013 Jan 25.

Nijmegen Center for Mitochondrial Disorders (NCMD) at the Department of Pediatrics and the Institute of Genetic and Metabolic Disease (IGMD), Radboud University Medical Centre, P.O Box 9101, 6500 HB, Nijmegen, The Netherlands,

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http://doi.wiley.com/10.1007/s10545-012-9579-6
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http://dx.doi.org/10.1007/s10545-012-9579-6DOI Listing
November 2013

A novel mutation in COQ2 leading to fatal infantile multisystem disease.

J Neurol Sci 2013 Mar 21;326(1-2):24-8. Epub 2013 Jan 21.

Laboratory of Clinical Chemistry and Hematology, St. Elisabeth Hospital, Tilburg, The Netherlands.

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http://dx.doi.org/10.1016/j.jns.2013.01.004DOI Listing
March 2013

Perinatal and early infantile symptoms in congenital disorders of glycosylation.

Am J Med Genet A 2013 Mar 7;161A(3):578-84. Epub 2013 Feb 7.

Hayward Genetics Center, Tulane University Medical Center, New Orleans, Louisiana, USA.

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http://dx.doi.org/10.1002/ajmg.a.35702DOI Listing
March 2013

Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?

Mitochondrion 2013 Jan 17;13(1):15-24. Epub 2012 Nov 17.

Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Geert Grooteplein 10, 6500 HB, P.O. Box 9101 Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.mito.2012.11.002DOI Listing
January 2013

Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

Eur J Med Genet 2012 Oct 7;55(10):552-6. Epub 2012 Jul 7.

Nijmegen Centre for Mitochondrial Disorders at the Department of Pediatrics and the Institute of Genetic and Metabolic Disease, Radboud University Medical Centre, PO Box 9101, Huispost 804, Postbus 9101, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ejmg.2012.06.002DOI Listing
October 2012

The 3-methylglutaconic acidurias: what's new?

J Inherit Metab Dis 2012 Jan 30;35(1):13-22. Epub 2010 Sep 30.

833 Nijmegen Centre for Mitochondrial Disorders, Department of Pediatrics, Institute of Genetic and Metabolic Disease (IGMD), Radboud University Nijmegen Medical Centre, P.O Box 9101, 6500 HB Nijmegen, The Netherlands.

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http://link.springer.com/content/pdf/10.1007/s10545-010-9210
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http://link.springer.com/10.1007/s10545-010-9210-7
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http://dx.doi.org/10.1007/s10545-010-9210-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249181PMC
January 2012

Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.

Mol Genet Metab 2011 Dec 26;104(4):691-4. Epub 2011 Aug 26.

Department of Pediatrics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2011.08.021DOI Listing
December 2011

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.

Brain 2009 Jan 16;132(Pt 1):136-46. Epub 2008 Nov 16.

Department of Paediatrics, Nijmegen Center for Mitochondrial Disorders, Radbound University Medical Center Nijmegen, The Netherlands.

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http://dx.doi.org/10.1093/brain/awn296DOI Listing
January 2009

Mitochondrial energy production correlates with the age-related BMI.

Pediatr Res 2009 Jan;65(1):103-8

Department of Pediatrics, Radboud University Medical Center Nijmegen, 6500 HB Nijmegen, The Netherlands.

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http://dx.doi.org/10.1203/PDR.0b013e31818d1c8aDOI Listing
January 2009

Dimerization of the cytokine receptors gp130 and LIFR analysed in single cells.

J Cell Sci 2005 Nov;118(Pt 21):5129-40

Institut für Biochemie, Universitätsklinikum RWTH Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany.

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http://dx.doi.org/10.1242/jcs.02628DOI Listing
November 2005

Long term association of the cytokine receptor gp130 and the Janus kinase Jak1 revealed by FRAP analysis.

J Biol Chem 2003 Oct 23;278(40):39205-13. Epub 2003 Jul 23.

Institut für Biochemie, Universitätsklinikum RWTH Aachen, Pauwelsstrasse 30, 52057 Aachen, Germany.

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http://dx.doi.org/10.1074/jbc.M303347200DOI Listing
October 2003