heiBIB: Haas, Dorothea

Haas, Dorothea Dr. med.Universität HeidelbergHeidelberg

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englisch (45)
deutsch (4)

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Publikationen in heiBIB

Das, Anibh Martin: Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1 : consensus group recommendations from the German-speaking countries / Anibh M. Das, Diana Ballhausen, Dorothea Haas, Johannes Häberle, Tobias Hagedorn, Cecilia Janson-Mut… , January 2025. - 18 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 48(2025), 1 vom: Jan., Artikel-ID e12824, Seite 1-18
DOI: 10.1002/jimd.12824
Mütze, Ulrike: Vitamin B12 deficiency newborn screening / Ulrike Mütze, MD, Florian Gleich, Dipl VW, Dorothea Haas, MD, Michael S. Urschitz, MD, MSc, Wulf Rös… , August 2024. - 10 S.
In: Pediatrics, ISSN 1098-4275. 154(2024), 2 vom: Aug., Artikel-ID e2023064809, Seite 1-10
DOI: 10.1542/peds.2023-064809
Trefz, Friedrich K.: Does hyperphenylalaninemia induce brain glucose hypometabolism? : Cerebral spinal fluid findings in treated adult phenylketonuric patients / Friedrich Trefz, Georg Frauendienst-Egger, Gerald Dienel, Claire Cannet, Brigitte Schmidt-Mader, Dor… , 23 March 2024. - 11 S. : Illustrationen
In: Molecular genetics and metabolism, ISSN 1096-7206. 142(2024), 1 vom: Mai, Artikel-ID 108464, Seite 1-11
DOI: 10.1016/j.ymgme.2024.108464
Grünert, Sarah: Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b / Sarah C. Grünert, Matthias Gautschi, Joshua Baker, Monica Boyer, Alberto Burlina, Thomas Casswall, W… , June 2024. - 6 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 142(2024), 2 vom: Juni, Artikel-ID 108486, Seite 1-6
DOI: 10.1016/j.ymgme.2024.108486
Erdal, Izzet: Dihydropyrimidinase deficiency with atrioventricular septal defect : a case report / İzzet Erdal, Yılmaz Yıldız, Oya Kuseyri Hübschmann, Dorothea Haas, Ceren Günbey, İlker Ertuğrul und … , 4. Juli 2024. - 4 S.
In: The journal of pediatric endocrinology and metabolism, ISSN 2191-0251. 37(2024), 8, Seite 741-744
DOI: 10.1515/jpem-2023-0518
Schnabel-Besson, Elena: Combined newborn screening allows comprehensive identification also of attenuated phenotypes for methylmalonic acidurias and homocystinuria / Elena Schnabel, Stefan Kölker, Florian Gleich, Patrik Feyh, Friederike Hörster, Dorothea Haas, Junmi… , 2023. - 15 S. : Illustrationen
In: Nutrients, ISSN 2072-6643. 15(2023), 15, Artikel-ID 3355, Seite 1-15
DOI: 10.3390/nu15153355
Grünert, Sarah: Efficacy and safety of empagliflozin in glycogen storage disease type Ib : data from an international questionnaire / Sarah C. Grünert, Terry G.J. Derks, Katarina Adrian, Khalid Al-Thihli, Diana Ballhausen, Joanna Bidi… , 3 May 2022. - 8 S.
In: Genetics in medicine, ISSN 1530-0366. 24(2022), 8 vom: Aug., Seite 1781-1788
DOI: 10.1016/j.gim.2022.04.001
Drovandi, Stefania: Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy / Stefania Drovandi, Beata S. Lipska-Ziętkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia B… , 26 April 2022. - 12 S.
In: Kidney international, ISSN 1523-1755. 102(2022), 3 vom: Sept., Seite 592-603
DOI: 10.1016/j.kint.2022.02.040
Drovandi, Stefania: Oral coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency / Stefania Drovandi, Beata S. Lipska-Ziętkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia B… , 25 May 2022. - 9 S.
In: Kidney international, ISSN 1523-1755. 102(2022), 3 vom: Sept., Seite 604-612
DOI: 10.1016/j.kint.2022.04.029
Iuso, Arcangela: Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS gene / Arcangela Iuso, Fangfang Zhang, Ejona Rusha, Birgit Campbell, Tatjana Dorn, Enrica Zanuttigh, Doroth… , May2022. - 5 S.
In: Stem cell research, ISSN 1876-7753. 61(2022), Artikel-ID 102773, Seite 1-5
DOI: 10.1016/j.scr.2022.102773
Brennenstuhl, Heiko: Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria / Heiko Brennenstuhl, Mohammed Nashawi, Julian Schröter, Federico Baronio, Lars Beedgen, Florian Gleic… , 2021. - 16 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 5, Seite 1272-1287
DOI: 10.1002/jimd.12412
Wegberg, Annemiek M. J. van: Undiagnosed phenylketonuria can exist everywhere : results from an international survey / Annemiek M.J. van Wegberg, MSc, Friedrich Trefz, MD, Maria Gizewska, MD, PhD, Sibtain Ahmed, MBBS, F… , 30 August 2021. - 6 S.
In: The journal of pediatrics, ISSN 1097-6833. 239(2021) Seite 231-234, e1-e2, 6 Seiten
DOI: 10.1016/j.jpeds.2021.08.070
Haas, Dorothea: Differences of phenylalanine concentrations in dried blood spots and in plasma : erythrocytes as a neglected component for this observation / Dorothea Haas, Jana Hauke, Kathrin V. Schwarz, Lucia Consalvi, Friedrich K. Trefz, Nenad Blau, Georg… , 3 October 2021. - 10 S.
In: Metabolites, ISSN 2218-1989. 11(2021), 10, Artikel-ID 680, Seite 1-10
DOI: 10.3390/metabo11100680
Garbade, Sven: Impact of glycogen storage disease type I on adult daily life : a survey / Sven F. Garbade, Viviane Ederer, Peter Burgard, Udo Wendel, Ute Spiekerkoetter, Dorothea Haas and Sa… , 03 September 2021. - 10 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 16(2021), Artikel-ID 371, Seite 1-10
DOI: 10.1186/s13023-021-02006-w
Mütze, Ulrike: Health outcomes of infants with vitamin B12 deficiency identified by newborn screening and early treated / Ulrike Mütze, MD, Magdalena Walter, PhD, Mareike Keller, MSc, Gwendolyn Gramer, MD, Sven F. Garbade,… , 11 February 2021. - 7 S.
In: The journal of pediatrics, ISSN 1097-6833. 235(2021) vom: Aug., Seite 42-48
DOI: 10.1016/j.jpeds.2021.02.009
Lim, Pei Jin: Omics profiling of S2P mutant fibroblasts as a mean to unravel the pathomechanism and molecular signatures of X-linked MBTPS2 osteogenesis imperfecta / Pei Jin Lim, Severin Marfurt, Uschi Lindert, Lennart Opitz, Timothée Ndarugendamwo, Pakeerathan Srik… , 21 May 2021. - 22 S.
In: Frontiers in genetics, ISSN 1664-8021. 12(2021) vom: Mai, Artikel-ID 662751, Seite 1-22
DOI: 10.3389/fgene.2021.662751
Liu, Wei: Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients / Wei Liu, Libin Xu, Connor R. Lamberson, Louise S. Merkens, Robert D. Steiner, Ellen R. Elias, Doroth… , 2013. - 10 S.
In: Journal of lipid research, ISSN 1539-7262. 54(2013), 1 vom: Jan., Seite 244-253
DOI: 10.1194/jlr.M031732
Cannet, Claire: Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls : results of NMR metabolomics investigation / Claire Cannet, Andrea Pilotto, Júlio César Rocha, Hartmut Schäfer, Manfred Spraul, Daniela Berg, Pet… , 27 February 2020. - 7 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 15(2020), Artikel-ID 61, Seite 1-7
DOI: 10.1186/s13023-020-1329-5
Pilotto, Andrea: Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria / Andrea Pilotto, Nenad Blau, Edytha Leks, Claudia Schulte, Christian Deuschl, Carl Zipser, David Piel… , 01 February 2019. - 9 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 3, Seite 398-406
DOI: 10.1002/jimd.12049
Monostori, Péter: Extended diagnosis of purine and pyrimidine disorders from urine : LC MS/MS assay development and clinical validation / Péter Monostori, Glynis Klinke, Jana Hauke, Sylvia Richter, Jörgen Bierau, Sven F. Garbade, Georg F.… , February 28, 2019. - 17 S.
In: PLOS ONE, ISSN 1932-6203. 14(2019,2) Artikel-Nummer e0212458, 17 Seiten
DOI: 10.1371/journal.pone.0212458
Yu, Qiuliyang: Semisynthetic sensor proteins enable metabolic assays at the point of care / Qiuliyang Yu, Lin Xue, Julien Hiblot, Rudolf Griss, Sebastian Fabritz, Clothilde Roux, Pierre-Alain … , 14 Sep 2018. - 5 S.
In: Science, ISSN 1095-9203. 361(2018), 6407, Seite 1122-1126
DOI: 10.1126/science.aat7992
Iuso, Arcangela: Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy / Arcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, Ben Pode-Shakked, Dina Marek-Yagel, Mathias Gr… , May 10, 2018. - 13 S.
In: The American journal of human genetics, ISSN 1537-6605. 102(2018), 6, Seite 1018-1030
DOI: 10.1016/j.ajhg.2018.03.022
Garbade, Sven: Allelic phenotype values : a model for genotype-based phenotype prediction in phenylketonuria / Sven F. Garbade, Nan Shen, Nastassja Himmelreich, Dorothea Haas, Friedrich K. Trefz, Georg F. Hoffma… , 2019. - 11 S.
In: Genetics in medicine, ISSN 1530-0366. 21(2019), 3, Seite 580-590
DOI: 10.1038/s41436-018-0081-x
Kuseyri Hübschmann, Oya: Amyloidosis cutis dyschromica, a rare cause of hyperpigmentation : a new case and literature review / Oya Kuseyri, Dorothea Haas, Nina Lang, Knut Schäkel, Markus Bettendorf, May 2017. - 6 S.
In: Pediatrics, ISSN 1098-4275. 139(2017), 5, Artikel-ID e20160170
DOI: 10.1542/peds.2016-0170
Schrank, Bertold: Dropped head syndrom als Folge einer behandelbaren metabolischen Myopathie / Bertold Schrank, Harald von Pein, Clemens Sommer, Dorothea Haas, Konstanze Hörtnagel, Saskia Biskup. - 5 S.
In: Klinische Neurophysiologie, ISSN 1439-4081. 48(2017), 02, S. 102-106
DOI: 10.1055/s-0043-107738
Jahnel, Jörg: Attempt to determine the prevalence of two inborn errors of primary bile acid synthesis : results of a European survey / Jörg Jahnel, Evelyn Zöhrer, Björn Fischler, Lorenzo D’Antiga, Dominique Debray, Antal Dezsofi, Dorot… , 2017. - 5 S.
DOI: 10.1097/MPG.0000000000001546
Kipp, Sandra: Identification of a haplotype associated with cholesterol deficiency and increased juvenile mortality in Holstein cattle / S. Kipp, D. Segelke, S. Schierenbeck, F. Reinhardt, R. Reents, C. Wurmser, H. Pausch, R. Fries, G. T… . - 17 S.
In: Journal of dairy science, ISSN 1525-3198. 99(2016), 11, S. 8915-8931
DOI: 10.3168/jds.2016-11118
Staufner, Christian: Adenosine kinase deficiency : expanding the clinical spectrum and evaluating therapeutic options / Christian Staufner, Martin Lindner, Carlo Dionisi‐Vici, Peter Freisinger, Dries Dobbelaere, Claire D… , 2016. - 11 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 39(2016), 2, Seite 273-283
DOI: 10.1007/s10545-015-9904-y
Becker, Susen: LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism / S. Becker, S. Röhnike, S. Empting, D. Haas, K. Mohnike, S. Beblo, U. Mütze, R.A. Husain, J. Thiery, … . - 7 S.
In: Analytical and bioanalytical chemistry, ISSN 1618-2650. 407(2015), 17, S. 5227-5233
DOI: 10.1007/s00216-015-8731-1
Lanthaler, Barbara: Characterization of large deletions in the DHCR7 gene / B. Lanthaler, K. Hinderhofer, B. Maas, D. Haas, H. Sawyer, S. Burton-Jones, K. Carter, M. Suri, M. W… . - 6 S.
In: Clinical genetics, ISSN 1399-0004. 88(2015), 2, S. 149-154
DOI: 10.1111/cge.12454
Haas, Dorothea: Defekte der Cholesterolbiosynthese und des Cholestroltransports als Ursache metabolischer Fehlbildungssyndrome : diagnostische und therapeutische Möglichkeiten / vorgelegt von Dr. med. Dorothea Haas. -
Heidelberg, 2015. - 62 Blätter : Diagramme
Haas, Dorothea: Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF / Dorothea Haas, Hongying Gan-Schreier, Claus-Dieter Langhans, Alexandros Anninos, Gisela Haege, Peter… , 15 March 2014. - 7 S.
In: Gene, ISSN 1879-0038. 538(2014), 1, Seite 188-194
DOI: 10.1016/j.gene.2014.01.019
Vinkler, Chana: A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features / Chana Vinkler, Esther Leshinsky-Silver, Marina Michelson, Dorothea Haas, Tally Lerman-Sagie, Dorit L… . - 5 S.
In: European journal of medical genetics, ISSN 1878-0849. 57(2014), 6, S. 288-292
DOI: 10.1016/j.ejmg.2014.03.010
Liu, Wei: A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome / Wei Liu, Libin Xu, Connor Lamberson, Dorothea Haas, Zeljka Korade, and Ned A. Porter. - 9 S.
In: Journal of lipid research, ISSN 1539-7262. 55(2014), 2, S. 329-337
DOI: 10.1194/jlr.D043877
Opladen, Thomas: Aspartylglucosaminuria : unusual neonatal presentation in qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family / Opladen, Thomas ; Ebinger, Friedrich ; Zschocke, Johannes ; Sengupta, Devjani ; Ben-Omran, Tawfeg ; … . - 7 S.
In: Journal of child neurology, ISSN 1708-8283. 29(2014), 1, S. 36-42
DOI: 10.1177/0883073812469049
Pavlou, Evangelos: An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder / Evangelos Pavlou, Persephone Augoustides-Savvopoulou, Niels Gregersen, Dorothea Haas, Anastasia Gkam… , 2013. - 4 S.
In: Journal of child neurology, ISSN 1708-8283. 28(2013), 5, Seite 668-671
DOI: 10.1177/0883073812449070
Witsch-Baumgartner, Martina: Clinical utility gene card for Smith-Lemli-Opitz Syndrome [SLOS] / Martina Witsch-Baumgartner, Hilary Sawyer and Dorothea Haas, 16 January 2013. - 4 S.
In: European journal of human genetics, ISSN 1476-5438. 21(2013), 8, Seite 891-894
DOI: 10.1038/ejhg.2012.255
Haas, Dorothea: Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndrome / Dorothea Haas, Gisela Haege, Georg F. Hoffmann, and Peter Burgard, 26 March 2013. - 4 S.
In: American journal of medical genetics, ISSN 1552-4833. 161(2013), 5, Seite 1008-1011
DOI: 10.1002/ajmg.a.35837
Bode, Harald: Non-lethal non-mosaic male with conradi-hunermann syndrome caused by a novel EBP c.356T>G mutation / Harald Bode, Christoph Galm, Helmut Hummler, Christopher Teller, Dorothea Haas, and Martin Gencik, 12 July 2013. - 4 S.
In: American journal of medical genetics, ISSN 1552-4833. 161(2013), 9, Seite 2385-2388
DOI: 10.1002/ajmg.a.35985
Das SLO-Syndrom : ein Ratgeber für Eltern und Ärzte / Dorothea Haas ... (Hrsg.). -
Frankfurt a. Main: Mabuse-Verl., 2013. - 113 S. : Ill., ISBN 978-3-86321-158-5
Ach, Thomas: Okuläre Zeichen eines mitochondrialen trifunktionalen Proteindefekts : eine Langzeitbeobachtung / T. Ach, G. Kolling, K. Rohrschneider, C. Richter, D. Haas, A. Schmidt-Bacher, 24 March 2012. - 6 S.
In: Der Ophthalmologe, ISSN 1433-0423. 109(2012), 3, Seite 277-282
DOI: 10.1007/s00347-011-2480-0
Haas, Dorothea: Differential diagnosis in patients with suspected bile acid synthesis defects / Dorothea Haas, Hongying Gan-Schreier, Claus-Dieter Langhans, Tilman Rohrer, Guido Engelmann, Maura H… , March 14, 2012. - 10 S.
In: World journal of gastroenterology, ISSN 2219-2840. 18(2012), 10, Seite 1067-1076
DOI: 10.3748/wjg.v18.i10.1067
Smits, Paulien: Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy / Paulien Smits, Ann Saada, Saskia B. Wortmann, Angelien J. Heister, Maaike Brink, Rolph Pfundt, Chaya… , 2011. - 6 S.
In: European journal of human genetics, ISSN 1476-5438. 19(2011), 4, Seite 394-399
DOI: 10.1038/ejhg.2010.214
Schmelzer, Constance: Ubiquinol-induced gene expression signatures are translated into altered parameters of erythropoiesis and reduced low density lipoprotein cholesterol levels in humans / Constance Schmelzer, Petra Niklowitz, Jürgen G. Okun, Dorothea Haas, Thomas Menke, Frank Döring, 28 January 2011. - 7 S.
In: IUBMB life, ISSN 1521-6551. 63(2011), 1, Seite 42-48
DOI: 10.1002/iub.413
Sauer, Sven: Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b−/− mice as a model for Wilson disease / Sven W. Sauer, Uta Merle, Silvana Opp, Dorothea Haas, Georg F. Hoffmann, Wolfgang Stremmel, Jürgen G… , 2 September 2011. - 9 S.
In: Biochimica et biophysica acta, ISSN 1879-260X. 1812(2011), 12, Seite 1607-1615
DOI: 10.1016/j.bbadis.2011.08.011
Schmelzer, Constance: The reduced form of coenzyme Q10 mediates distinct effects on cholesterol metabolism at the transcriptional and metabolite level in SAMP1 mice / Constance Schmelzer, Jürgen G. Okun, Dorothea Haas, Keiichi Higuchi, Jinko Sawashita, Masayuki Mori … , 17 November 2010. - 7 S.
In: IUBMB life, ISSN 1521-6551. 62(2010), 11 vom: Nov., Seite 812-818
DOI: 10.1002/iub.388
Haas, Dorothea: Abnormal sterol metabolism in holoprosencephaly / Dorothea Haas and Maximilian Muenke, 26. Januar 2010. - 7 S.
In: American journal of medical genetics, ISSN 1552-4876. 154C(2010), 1, Seite 102-108
DOI: 10.1002/ajmg.c.30243
Meyer, Sascha: A novel missense mutation in a neonate with nonketotic hyperglycinemia / Sascha Meyer, MD, Cécile Acquaviva, PharmD, Mohammed Ghiath Shamdeen, MD, Dorothea Haas, MD, and Chr… , 6 October 2010. - 5 S.
In: Pediatric neurology, ISSN 1873-5150. 43(2010), 5 vom: Nov., Seite 363-367
DOI: 10.1016/j.pediatrneurol.2010.05.025
Prietsch, Viola: Mevalonate kinase deficiency : enlarging the clinical and biochemical spectrum / Viola Prietsch, Ertan Mayatepek, Hermann Krastel, Dorothea Haas, Dorothee Zundel, Hans R. Waterham, … , February 1, 2003. - 4 S.
In: Pediatrics, ISSN 1098-4275. 111(2003), 2, Seite 258-261
DOI: 10.1542/peds.111.2.258

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