Publications by authors named "Dorothea Haas"

39Publications

Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation.

PLoS One 2019 28;14(2):e0212458. Epub 2019 Feb 28.

Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0212458PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394934PMC
December 2019

Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria.

J Inherit Metab Dis 2019 05 1;42(3):398-406. Epub 2019 Feb 1.

Department of Pediatrics, Division for Neuropediatrics and Metabolic Medicine, University of Heidelberg, Heidelberg, Germany.

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http://doi.wiley.com/10.1002/jimd.12049
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http://dx.doi.org/10.1002/jimd.12049DOI Listing
May 2019

Semisynthetic sensor proteins enable metabolic assays at the point of care.

Science 2018 09;361(6407):1122-1126

Department of Chemical Biology, Max Planck Institute for Medical Research, 69120 Heidelberg, Germany.

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http://www.sciencemag.org/lookup/doi/10.1126/science.aat7992
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http://dx.doi.org/10.1126/science.aat7992DOI Listing
September 2018

Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.

Genet Med 2019 03 12;21(3):580-590. Epub 2018 Jul 12.

Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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http://www.nature.com/articles/s41436-018-0081-x
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http://dx.doi.org/10.1038/s41436-018-0081-xDOI Listing
March 2019

Amyloidosis Cutis Dyschromica, a Rare Cause of Hyperpigmentation: A New Case and Literature Review.

Pediatrics 2017 May;139(5)

Department of General Pediatrics and Division of Pediatric Endocrinology and Diabetes, University Children's Hospital Heidelberg, Heidelberg, Germany; and.

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http://dx.doi.org/10.1542/peds.2016-0170DOI Listing
May 2017

Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey.

J Pediatr Gastroenterol Nutr 2017 06;64(6):864-868

*Department of Paediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria †Department of Paediatrics, CLINTEC, Karolinska University Hospital, Stockholm, Sweden ‡Paediatric Hepatology, Gastroenterology and Transplantation, Hospital Papa Giovanni XXIII, Bergamo, Italy §Pediatric Hepatology Unit, Hôpital Necker-Enfants-Malades, Paris, France ||First Department of Paediatrics, Semmelweis University, Budapest, Hungary ¶Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, Heidelberg, Germany #Paediatric Centre for Hepatology, Gastroenterology and Nutrition, King's College Hospital, London, UK **Pediatric Hepatology and Liver Transplantation Unit, Hôpital Bicêtre, Reference Centre for Pediatric Liver Diseases-DHU Hepatinov, Assistance Publique-Hôpitaux de Paris and INSERM UMR-S 1174, Université Paris-Sud 11, Le Kremlin-Bicêtre ††Pediatric Hepatology and Gastroenterology Unit, University Children's Hospital, Bordeaux, France ‡‡Department of Medical Sciences, Paediatric Section, University Hospital Arcispedale Sant'Anna, University of Ferrara, Ferrara, Italy §§Division of Gastroenterology/Hepatology/Nutrition, Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, Pittsburgh, PA ||||Department of Pediatrics, Pediatric Gastroenterology Unit, Azienda Ospedaliera-Universitaria Citta[Combining Grave Accent] della Salute e della Scienza di Torino, University of Torino, Torino, Italy ¶¶Department of Paediatrics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands ##Paediatric Hepatology Service, Hospital Infantil Universitario "La Paz," Madrid, Spain ***Paediatric Gastroenterology Unit, Department of Pediatrics, University Hospitals Geneva, Geneva, Switzerland †††Division of Paediatric Gastroenterology and Hepatology, Department of Paediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany.

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http://dx.doi.org/10.1097/MPG.0000000000001546DOI Listing
June 2017

A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features.

Eur J Med Genet 2014 May-Jun;57(6):288-92. Epub 2014 Apr 5.

Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel; Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.03.010DOI Listing
February 2015

Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF.

Gene 2014 Mar 15;538(1):188-94. Epub 2014 Jan 15.

Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2014.01.019DOI Listing
March 2014

A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome.

J Lipid Res 2014 Feb 20;55(2):329-37. Epub 2013 Nov 20.

Department of Chemistry, Vanderbilt Institute of Chemical Biology, Vanderbilt University, Nashville, TN 37235.

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http://dx.doi.org/10.1194/jlr.D043877DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3886672PMC
February 2014

Non-lethal non-mosaic male with Conradi-Hunermann syndrome caused by a novel EBP c.356T>G mutation.

Am J Med Genet A 2013 Sep 12;161A(9):2385-8. Epub 2013 Jul 12.

Division of Social Pediatrics and Child Neurology, University Childrens's Hospital, Frauensteige 10, D-89077 Ulm, Germany.

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http://dx.doi.org/10.1002/ajmg.a.35985DOI Listing
September 2013

Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndrome.

Am J Med Genet A 2013 May 26;161A(5):1008-11. Epub 2013 Mar 26.

Division of Inborn Metabolic Diseases, Department of General Pediatrics, University Children's Hospital, Heidelberg, Germany.

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http://dx.doi.org/10.1002/ajmg.a.35837DOI Listing
May 2013

Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS].

Eur J Hum Genet 2013 Aug 16;21(8). Epub 2013 Jan 16.

Department of Medical Genetics, Molecular and Clinical Pharmacology, Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1038/ejhg.2012.255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3722671PMC
August 2013

Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients.

J Lipid Res 2013 Jan 16;54(1):244-53. Epub 2012 Oct 16.

Department of Chemistry, Vanderbilt Institute of Chemical Biology and Vanderbilt Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, TN 37235, USA.

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http://dx.doi.org/10.1194/jlr.M031732DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520531PMC
January 2013

An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder.

J Child Neurol 2013 May 17;28(5):668-71. Epub 2012 Jul 17.

2nd Paediatric Department, Aristotle University of Thessaloniki, AHEPA General Hospital, Thessaloniki, Greece.

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http://dx.doi.org/10.1177/0883073812449070DOI Listing
May 2013

Differential diagnosis in patients with suspected bile acid synthesis defects.

World J Gastroenterol 2012 Mar;18(10):1067-76

Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Children´s Hospital, Heidelberg D-69120, Germany.

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http://dx.doi.org/10.3748/wjg.v18.i10.1067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3296980PMC
March 2012

Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b(-/-) mice as a model for Wilson disease.

Biochim Biophys Acta 2011 Dec 2;1812(12):1607-15. Epub 2011 Sep 2.

Department of Pediatrics, University Hospital, Heidelberg, Germany.

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http://dx.doi.org/10.1016/j.bbadis.2011.08.011DOI Listing
December 2011

The molecular basis of aminoacylase 1 deficiency.

Biochim Biophys Acta 2011 Jun 23;1812(6):685-90. Epub 2011 Mar 23.

Labor für Klinische Biochemie & Stoffwechsel, Zentrum für Kinder- und Jugendmedizin, Universitätsklinikum Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1016/j.bbadis.2011.03.005DOI Listing
June 2011

Ubiquinol-induced gene expression signatures are translated into altered parameters of erythropoiesis and reduced low density lipoprotein cholesterol levels in humans.

IUBMB Life 2011 Jan;63(1):42-8

Department of Molecular Prevention, Institute of Human Nutrition and Food Science, Christian-Albrechts-University of Kiel, Heinrich-Hecht-Platz 10, Kiel, Germany.

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http://doi.wiley.com/10.1002/iub.413
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http://dx.doi.org/10.1002/iub.413DOI Listing
January 2011

The reduced form of coenzyme Q10 mediates distinct effects on cholesterol metabolism at the transcriptional and metabolite level in SAMP1 mice.

IUBMB Life 2010 Nov;62(11):812-8

Department of Molecular Prevention, Institute of Human Nutrition and Food Science, Molecular Prevention, Christian-Albrechts-University of Kiel, Kiel, Germany.

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http://dx.doi.org/10.1002/iub.388DOI Listing
November 2010

A novel missense mutation in a neonate with nonketotic hyperglycinemia.

Pediatr Neurol 2010 Nov;43(5):363-7

Department of Pediatric and Neonatal Intensive Care Medicine, University Hospital of Saarland, Homburg, Germany.

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http://dx.doi.org/10.1016/j.pediatrneurol.2010.05.025DOI Listing
November 2010

Abnormal sterol metabolism in holoprosencephaly.

Am J Med Genet C Semin Med Genet 2010 Feb;154C(1):102-8

University Children's Hospital of Heidelberg, Germany.

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http://doi.wiley.com/10.1002/ajmg.c.30243
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http://dx.doi.org/10.1002/ajmg.c.30243DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4131929PMC
February 2010

Plasma and thrombocyte levels of coenzyme Q10 in children with Smith-Lemli-Opitz syndrome (SLOS) and the influence of HMG-CoA reductase inhibitors.

Biofactors 2008 ;32(1-4):191-7

Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1002/biof.5520320123DOI Listing
February 2009

Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis.

Acta Derm Venereol 2008 ;88(1):47-51

Department of Dermatology, University of Würzburg, Josef-Schneider-Strasse 2, Würzburg, Germany.

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http://dx.doi.org/10.2340/00015555-0337DOI Listing
June 2008

Mevalonate kinase deficiency and autoinflammatory disorders.

N Engl J Med 2007 Jun;356(26):2671-3

Department of General Pediatrics, Division of Inborn Metabolic Diseases, University Hospital for Pediatric and Adolescent Medicine, Heidelberg, Germany.

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http://www.nejm.org/doi/abs/10.1056/NEJMp078083
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http://dx.doi.org/10.1056/NEJMp078083DOI Listing
June 2007

Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome.

Orphanet J Rare Dis 2006 Apr 26;1:13. Epub 2006 Apr 26.

Department of General Pediatrics, University Children's Hospital Heidelberg, Im Neuenheimer Feld 150, D-69120 Heidelberg, Germany.

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http://dx.doi.org/10.1186/1750-1172-1-13DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1475558PMC
April 2006

Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry.

Clin Chem 2006 Jun 13;52(6):1127-37. Epub 2006 Apr 13.

Division of Metabolic Diseases, Department of General Pediatrics, University Children's Hospital Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1373/clinchem.2005.058842DOI Listing
June 2006

Pseudotrisomy 13: clinical findings and genetic implications.

Fetal Diagn Ther 2005 Nov-Dec;20(6):501-3

Institute of Human Genetics, Otto-von-Guericke University, Magdeburg, Germany.

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http://dx.doi.org/10.1159/000088038DOI Listing
January 2006

L-alanine supplementation in late infantile glycogen storage disease type II.

Pediatr Neurol 2002 Aug;27(2):145-6

Department of Pediatrics; University Children's Hospital, Vienna, Austria.

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http://dx.doi.org/10.1016/s0887-8994(02)00413-7DOI Listing
August 2002