@article{UBHD-68327325,
  author={Ach, Thomas and Kolling, Gerold and Rohrschneider, Klaus and Haas, Dorothea and Schmidt-Bacher, Annette},
  title={Okul{\"a}re Zeichen eines mitochondrialen trifunktionalen Proteindefekts},
  subtitle={eine Langzeitbeobachtung},
  year={2012},
  pages={277-282},
  language={ger},
  issn={1433-0423},
  volume={109},
  number={3},
  note={Gesehen am 12.11.2018},
  journal={Der Ophthalmologe},
  doi={10.1007/s00347-011-2480-0},
}
@article{UBHD-68107101,
  author={Becker, Susen and Haas, Dorothea},
  title={LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism},
  year={2015},
  pages={5227-5233},
  language={eng},
  issn={1618-2650},
  volume={407},
  number={17},
  note={Gesehen am 05.04.2017},
  journal={Analytical and bioanalytical chemistry},
  doi={10.1007/s00216-015-8731-1},
}
@article{UBHD-68666392,
  author={Bode, Harald and Galm, Christoph and Hummler, Helmut and Teller, Christopher and Haas, Dorothea and Gencik, Martin},
  title={Non-lethal non-mosaic male with conradi-hunermann syndrome caused by a novel EBP c.356T>G mutation},
  year={2013},
  pages={2385-2388},
  language={eng},
  issn={1552-4833},
  volume={161},
  number={9},
  note={Gesehen am 27.11.2020},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.35985},
}
@article{UBHD-69113609,
  author={Brennenstuhl, Heiko and Nashawi, Mohammed and Schr{\"o}ter, Julian and Baronio, Federico and Beedgen, Lars and Gleich, Florian and Jeltsch, Kathrin and Landenberg, Christina von and Martini, Silvia and Simon, Anna and Thiel, Christian and Tsiakas, Konstantinos and Opladen, Thomas and K{\"o}lker, Stefan and Hoffmann, Georg F. and Haas, Dorothea},
  title={Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria},
  year={2021},
  pages={1272-1287},
  language={eng},
  issn={1573-2665},
  volume={44},
  number={5},
  note={Gesehen am 17.08.2023},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12412},
  url={https://doi.org/10.1002/jimd.12412},
  library={UB},
}
@article{UBHD-68572630,
  author={Cannet, Claire and Pilotto, Andrea and Rocha, Júlio César and Sch{\"a}fer, Hartmut and Spraul, Manfred and Berg, Daniela and Nawroth, Peter Paul and Kasperk, Christian and Gramer, Gwendolyn and Haas, Dorothea and Piel, David and K{\"o}lker, Stefan and Hoffmann, Georg F. and Freisinger, Peter and Trefz, Friedrich K.},
  title={Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls},
  subtitle={results of NMR metabolomics investigation},
  year={2020},
  pages={1-7},
  language={eng},
  issn={1750-1172},
  volume={15},
  number={Artikel-ID 61},
  note={Gesehen am 04.05.2020},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-020-1329-5},
}
@article{UBHD-69354804,
  author={Das, Anibh Martin and Ballhausen, Diana and Haas, Dorothea and H{\"a}berle, Johannes and Hagedorn, Tobias and Janson-Mutsaerts, Cecilia and Janzen, Nils and Sander, Johannes and Freisinger, Peter and Karall, Daniela and Meyer, Uta and M{\"o}nch, Eberhard and Morlot, Susanne and Rosenbaum-Fabian, Stefanie and Scholl-B{\"u}rgi, Sabine and vom Dahl, Stephan and Weinhold, Natalie and Zeman, Jiri and Lange, Karin},
  title={Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1},
  subtitle={consensus group recommendations from the German-speaking countries},
  year={2025},
  pages={1-18},
  language={eng},
  issn={1573-2665},
  volume={48},
  note={Online ver{\"o}ffentlicht: 15. Dezember 2024 ; Gesehen am 10.06.2025},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12824},
}
@article{UBHD-69009934,
  author={Drovandi, Stefania and Lipska-Ziętkiewicz, Beata S. and Ozaltin, Fatih and Emma, Francesco and Gulhan, Bora and Boyer, Olivia and Trautmann, Agnes and Xu, Hong and Shen, Qian and Rao, Jia and Riedhammer, Korbinian M. and Heemann, Uwe and Hoefele, Julia and Stenton, Sarah L. and Tsygin, Alexey N. and Ng, Kar-Hui and Fomina, Svitlana and Benetti, Elisa and Aurelle, Manon and Prikhodina, Larisa and Schreuder, Michiel F. and Tabatabaeifar, Mansoureh and Jankowski, Maciej and Baiko, Sergey and Mao, Jianhua and Feng, Chunyue and Liu, Cuihua and Sun, Shuzhen and Deng, Fang and Wang, Xiaowen and Clavé, Stéphanie and Stańczyk, Małgorzata and Bałasz-Chmielewska, Irena and Fila, Marc and Durkan, Anne M. and Levart, Tanja Kersnik and Dursun, Ismail and Esfandiar, Nasrin and Haas, Dorothea and Bjerre, Anna and Anarat, Ali and Benz, Marcus R. and Talebi, Saeed and Hooman, Nakysa and Ariceta, Gema and Baiko, Sergey and Serna Higuita, Lina Maria and Schaefer, Franz and Trautmann, Agnes and Tabatabaeifar, Mansoureh and Gheissari, Alaleh and Hooman, Nakysa and Benetti, Elisa and Emma, Francesco and Nigmatullina, Nazym and Lipska-Ziętkiewicz, Beata S. and Bałasz-Chmielewska, Irena and Tkaczyk, Marcin and Stańczyk, Małgorzata and Borzecka, Halina and Tsygin, Alexey N. and Prikhodina, Larisa and Bogdanovic, Radovan and Anarat, Ali and Ozaltin, Fatih and Mir, Sevgi and Fomina, Svitlana and Klopstock, Thomas and Prokisch, Holger and Kornblum, Cornelia and Xu, Hong and Shen, Qian and Rao, Jia and Liu, Cui-Hua and Sun, Shu-Zhen and Deng, Fang and Dong, Yang and Wang, Xiao-Wen and Luan, Jiang-Wei and Schaefer, Franz},
  title={Oral coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency},
  year={2022},
  pages={604-612},
  language={eng},
  issn={1523-1755},
  volume={102},
  number={3 vom: Sept.},
  note={Gesehen am 25.01.2023 ; PodoNet Consortium: Sergey Baiko, Lina Maria Serna Higuita, Franz Schaefer, Agnes Trautmann, Mansoureh Tabatabaeifar, Alaleh Gheissari, Nakysa Hooman, Elisa Benetti, Francesco Emma, Nazym Nigmatullina, Beata S. Lipska-Ziętkiewicz, Irena Bałasz-Chmielewska, Marcin Tkaczyk, Małgorzata Stańczyk, Halina Borzecka, Alexey N. Tsygin, Larisa Prikhodina, Radovan Bogdanovic, Ali Anarat, Fatih Ozaltin, Sevgi Mir, Svitlana Fomina ; MitoNET Consortium: Thomas Klopstock, Holger Prokisch, Cornelia Kornblum ; CCGKDD Consortium: Hong Xu, Qian Shen, Jia Rao, Cui-Hua Liu, Shu-Zhen Sun, Fang Deng, Yang Dong, Xiao-Wen Wang, Jiang-Wei Luan},
  journal={Kidney international},
  doi={10.1016/j.kint.2022.04.029},
}
@article{UBHD-69009959,
  author={Drovandi, Stefania and Lipska-Ziętkiewicz, Beata S. and Ozaltin, Fatih and Emma, Francesco and Gulhan, Bora and Boyer, Olivia and Trautmann, Agnes and Ziętkiewicz, Szymon and Xu, Hong and Shen, Qian and Rao, Jia and Riedhammer, Korbinian M. and Heemann, Uwe and Hoefele, Julia and Stenton, Sarah L. and Tsygin, Alexey N. and Ng, Kar-Hui and Fomina, Svitlana and Benetti, Elisa and Aurelle, Manon and Prikhodina, Larisa and Schijvens, Anne M. and Tabatabaeifar, Mansoureh and Jankowski, Maciej and Baiko, Sergey and Mao, Jianhua and Feng, Chunyue and Deng, Fang and Rousset-Rouviere, Caroline and Stańczyk, Małgorzata and Bałasz-Chmielewska, Irena and Fila, Marc and Durkan, Anne M. and Levart, Tanja Kersnik and Dursun, Ismail and Esfandiar, Nasrin and Haas, Dorothea and Bjerre, Anna and Anarat, Ali and Benz, Marcus R. and Talebi, Saeed and Hooman, Nakysa and Ariceta, Gema and Schaefer, Franz},
  title={Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy},
  year={2022},
  pages={592-603},
  language={eng},
  issn={1523-1755},
  volume={102},
  number={3 vom: Sept.},
  note={Gesehen am 25.01.2023 ; PodoNet Consortium: Sergey Baiko, Lina Maria Serna Higuita, Franz Schaefer, Agnes Trautmann, Mansoureh Tabatabaeifar, Alaleh Gheissari, Nakysa Hooman, Elisa Benetti, Francesco Emma, Nazym Nigmatullina, Beata S. Lipska-Ziętkiewicz, Irena Bałasz-Chmielewska, Marcin Tkaczyk, Małgorzata Stańczyk, Halina Borzecka, Alexey N. Tsygin, Larisa Prikhodina, Radovan Bogdanovic, Ali Anarat, Fatih Ozaltin, Sevgi Mir, Svitlana Fomina ; MitoNET Consortium: Thomas Klopstock, Holger Prokisch, Cornelia Kornblum ; CCGKDD Consortium: Hong Xu, Qian Shen, Jia Rao, Cui-Hua Liu, Shu-Zhen Sun, Fang Deng, Yang Dong, Xiao-Wen Wang, Jiang-Wei Luan},
  journal={Kidney international},
  doi={10.1016/j.kint.2022.02.040},
}
@article{UBHD-69283525,
  author={Erdal, Izzet and Yıldız, Yılmaz and Kuseyri H{\"u}bschmann, Oya and Haas, Dorothea and G{\"u}nbey, Ceren and Ertuğrul, İlker and Yalnızoğlu, Dilek},
  title={Dihydropyrimidinase deficiency with atrioventricular septal defect},
  subtitle={a case report},
  year={2024},
  pages={741-744},
  language={eng},
  issn={2191-0251},
  volume={37},
  number={8},
  note={Gesehen am 13.12.2024},
  journal={The journal of pediatric endocrinology and metabolism},
  doi={10.1515/jpem-2023-0518},
}
@article{UBHD-68405382,
  author={Garbade, Sven and Himmelreich, Nastassja and Haas, Dorothea and Trefz, Friedrich K. and Hoffmann, Georg F. and Burgard, Peter and Blau, Nenad},
  title={Allelic phenotype values},
  subtitle={a model for genotype-based phenotype prediction in phenylketonuria},
  year={2019},
  pages={580-590},
  language={eng},
  issn={1530-0366},
  volume={21},
  number={3},
  note={Published: 12 July 2018 ; Gesehen am 05.07.2019},
  journal={Genetics in medicine},
  doi={10.1038/s41436-018-0081-x},
}
@article{UBHD-68792364,
  author={Garbade, Sven and Ederer, Viviane and Burgard, Peter and Wendel, Udo and Spiekerk{\"o}tter, Ute and Haas, Dorothea and Gr{\"u}nert, Sarah},
  title={Impact of glycogen storage disease type I on adult daily life},
  subtitle={a survey},
  year={2021},
  pages={1-10},
  language={eng},
  issn={1750-1172},
  volume={16},
  number={Artikel-ID 371},
  note={Gesehen am 21.10.2021},
  journal={Orphanet journal of rare diseases},
  doi={10.1186/s13023-021-02006-w},
}
@article{UBHD-69036583,
  author={Gr{\"u}nert, Sarah and Derks, Terry G. J. and Adrian, Katarina and Al-Thihli, Khalid and Ballhausen, Diana and Bidiuk, Joanna and Bordugo, Andrea and Boyer, Monica and Bratkovic, Drago and Brunner-Krainz, Michaela and Burlina, Alberto and Chakrapani, Anupam and Corpeleijn, Willemijn and Cozens, Alison and Dawson, Charlotte and Dhamko, Helena and Milosevic, Maja Djordjevic and Eiroa, Hernan and Finezilber, Yael and Moura de Souza, Carolina Fischinger and Garcia-Jiménez, Maria Concepción and Gasperini, Serena and Haas, Dorothea and H{\"a}berle, Johannes and Halligan, Rebecca and Fung, Law Hiu and H{\"o}rbe-Blindt, Alexandra and Horka, Laura Maria and Huemer, Martina and Uçar, Sema Kalkan and Kecman, Bozica and Kilavuz, Sebile and Kriván, Gergely and Lindner, Martin and L{\"u}sebrink, Natalia and Makrilakis, Konstantinos and Mei-Kwun Kwok, Anne and Maier, Esther M. and Maiorana, Arianna and McCandless, Shawn E. and Mitchell, John James and Mizumoto, Hiroshi and Mundy, Helen and Ochoa, Carlos and Pierce, Kathryn and Fraile, Pilar Quijada and Regier, Debra and Rossi, Alessandro and Santer, René and Schuman, Hester C. and Sobieraj, Piotr and Spenger, Johannes and Spiegel, Ronen and Stepien, Karolina M. and Tal, Galit and Tanšek, Mojca Zerjav and Torkar, Ana Drole and Tchan, Michel and Thyagu, Santhosh and Schrier Vergano, Samantha A. and Vucko, Erika and Weinhold, Natalie and Zsidegh, Petra and Wortmann, Saskia B.},
  title={Efficacy and safety of empagliflozin in glycogen storage disease type Ib},
  subtitle={data from an international questionnaire},
  year={2022},
  pages={1781-1788},
  language={eng},
  issn={1530-0366},
  volume={24},
  number={8 vom: Aug.},
  note={Gesehen am 03.02.2023},
  journal={Genetics in medicine},
  doi={10.1016/j.gim.2022.04.001},
}
@article{UBHD-69305114,
  author={Gr{\"u}nert, Sarah and Gautschi, Matthias and Baker, Joshua and Boyer, Monica and Burlina, Alberto and Casswall, Thomas and Corpeleijn, Willemijn and Çıki, Kismet and Cotter, Melanie and Crushell, Ellen and Derks, Terry G. J. and Haas, Dorothea and Kilavuz, Sebile and Kingma, Sandra D. K. and Korman, Stanley H. and Kozek, Anne and de Laet, Corinne and Mundy, Helen and Nassogne, Marie Cecile and Quintero, Victor and Rossi, Alessandro and Spenger, Johannes and Spiegel, Ronen and Stephenne, Xavier and Stojkov, Darko and Tal, Galit and Veiga-da Cunha, Maria and Wortmann, Saskia B.},
  title={Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b},
  year={2024},
  pages={1-6},
  language={eng},
  issn={1096-7206},
  volume={142},
  note={Online ver{\"o}ffentlicht: 27. April 2024, Artikelversion: 10. Mai 2024 ; Gesehen am 17.02.2025},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2024.108486},
}
@article{UBHD-69083466,
  author={Haas, Dorothea and Muenke, Maximilian},
  title={Abnormal sterol metabolism in holoprosencephaly},
  year={2010},
  pages={102-108},
  language={eng},
  issn={1552-4876},
  volume={154C},
  number={1},
  note={Gesehen am 07.06.2023},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.c.30243},
}
@book{UBHD-67985003,
  author={Haas, Dorothea},
  organization={Universit{\"a}t Heidelberg},
  title={Defekte der Cholesterolbiosynthese und des Cholestroltransports als Ursache metabolischer Fehlbildungssyndrome},
  subtitle={diagnostische und therapeutische M{\"o}glichkeiten},
  address={Heidelberg},
  year={2015},
  pages={62 Bl{\"a}tter},
  language={ger},
  school={Habilitationsschrift,  Medizinische Fakult{\"a}t Heidelberg der Ruprecht-Karls-Universit{\"a}t,  2016},
  library={UB [Signatur: 2016 U 422]},
}
@article{UBHD-67928865,
  author={Haas, Dorothea and Gan-Schreier, Hongying and Langhans, Claus-Dieter and Anninos, Alexandros and Haege, Gisela and Burgard, Peter and Schulze, Andreas and Hoffmann, Georg F. and Okun, J{\"u}rgen G.},
  title={Diagnosis and therapeutic monitoring of inborn errors of creatine metabolism and transport using liquid chromatography-tandem mass spectrometry in urine, plasma and CSF},
  year={2014},
  pages={188-194},
  language={eng},
  issn={1879-0038},
  volume={538},
  number={1},
  note={Gesehen am 22.01.2016},
  journal={Gene},
  doi={10.1016/j.gene.2014.01.019},
}
@article{UBHD-68807089,
  author={Haas, Dorothea and Hauke, Jana and Schwarz, Kathrin V. and Consalvi, Lucia and Trefz, Friedrich K. and Blau, Nenad and Hoffmann, Georg F. and Burgard, Peter and Garbade, Sven and Okun, J{\"u}rgen G.},
  title={Differences of phenylalanine concentrations in dried blood spots and in plasma},
  subtitle={erythrocytes as a neglected component for this observation},
  year={2021},
  pages={1-10},
  language={eng},
  issn={2218-1989},
  volume={11},
  note={Gesehen am 01.12.2021},
  journal={Metabolites},
  doi={10.3390/metabo11100680},
}
@article{UBHD-68300400,
  author={Haas, Dorothea and Gan-Schreier, Hongying and Langhans, Claus-Dieter and Engelmann, Guido and Hoffmann, Georg F. and Okun, J{\"u}rgen G.},
  title={Differential diagnosis in patients with suspected bile acid synthesis defects},
  year={2012},
  pages={1067-1076},
  language={eng},
  issn={2219-2840},
  volume={18},
  number={10},
  note={Gesehen am 30.08.2018},
  journal={World journal of gastroenterology},
  doi={10.3748/wjg.v18.i10.1067},
}
@article{UBHD-68687313,
  author={Haas, Dorothea and Haege, Gisela and Hoffmann, Georg F. and Burgard, Peter},
  title={Prenatal presentation and diagnostic evaluation of suspected Smith-Lemli-Opitz (RSH) syndrome},
  year={2013},
  pages={1008-1011},
  language={eng},
  issn={1552-4833},
  volume={161},
  number={5},
  note={Gesehen am 10.02.2021},
  journal={American journal of medical genetics},
  doi={10.1002/ajmg.a.35837},
}
@article{UBHD-68934481,
  author={Iuso, Arcangela and Zhang, Fangfang and Rusha, Ejona and Campbell, Birgit and Dorn, Tatjana and Zanuttigh, Enrica and Haas, Dorothea and Anikster, Yair and Lederer, Gabriele and Pertek, Anna and Nteli, Polyxeni and Laugwitz, Karl-Ludwig and Moretti, Alessandra},
  title={Generation of two human iPSC lines, HMGUi003-A and MRIi028-A, carrying pathogenic biallelic variants in the PPCS gene},
  year={2022},
  pages={1-5},
  language={eng},
  issn={1876-7753},
  volume={61},
  number={Artikel-ID 102773},
  note={Available online 31 March 2022 ; Gesehen am 24.06.2022},
  journal={Stem cell research},
  doi={10.1016/j.scr.2022.102773},
}
@article{UBHD-68491185,
  author={Iuso, Arcangela and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and Haas, Dorothea},
  title={Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy},
  year={2018},
  pages={1018-1030},
  language={eng},
  issn={1537-6605},
  volume={102},
  number={6},
  note={Gesehen am 19.02.2020},
  journal={The American journal of human genetics},
  doi={10.1016/j.ajhg.2018.03.022},
}
@incollection{UBHD-68279563,
  author={Jahnel, J{\"o}rg and Haas, Dorothea},
  title={Attempt to determine the prevalence of two inborn errors of primary bile acid synthesis},
  subtitle={results of a European survey},
  year={2017},
  pages={5 S.},
  language={eng},
  note={Originally published: June 1, 2017 ; Gesehen am 02.07.2018},
  doi={10.1097/MPG.0000000000001546},
}
@article{UBHD-68201854,
  author={Kipp, Sandra and Haas, Dorothea},
  title={Identification of a haplotype associated with cholesterol deficiency and increased juvenile mortality in Holstein cattle},
  year={2016},
  pages={8915-8931},
  language={eng},
  issn={1525-3198},
  volume={99},
  number={11},
  note={Gesehen am 14.12.2017},
  journal={Journal of dairy science},
  doi={10.3168/jds.2016-11118},
}
@article{UBHD-68323692,
  author={Kuseyri H{\"u}bschmann, Oya and Haas, Dorothea and Lang, Nina and Sch{\"a}kel, Knut and Bettendorf, Markus},
  title={Amyloidosis cutis dyschromica, a rare cause of hyperpigmentation},
  subtitle={a new case and literature review},
  year={2017},
  pages={6 S.},
  language={eng},
  issn={1098-4275},
  volume={139},
  note={Gesehen am 31.10.2018},
  journal={Pediatrics},
  doi={10.1542/peds.2016-0170},
}
@article{UBHD-68087537,
  author={Lanthaler, Barbara and Hinderhofer, Katrin and Maas, Bianca and Haas, Dorothea},
  title={Characterization of large deletions in the DHCR7 gene},
  year={2015},
  pages={149-154},
  language={eng},
  issn={1399-0004},
  volume={88},
  number={2},
  note={Gesehen am 21.02.2017},
  journal={Clinical genetics},
  doi={10.1111/cge.12454},
}
@article{UBHD-68767002,
  author={Lim, Pei Jin and Marfurt, Severin and Lindert, Uschi and Opitz, Lennart and Ndarugendamwo, Timothée and Srikanthan, Pakeerathan and Poms, Martin and Hersberger, Martin and Langhans, Claus-Dieter and Haas, Dorothea and Rohrbach, Marianne and Giunta, Cecilia},
  title={Omics profiling of S2P mutant fibroblasts as a mean to unravel the pathomechanism and molecular signatures of X-linked MBTPS2 osteogenesis imperfecta},
  year={2021},
  pages={1-22},
  language={eng},
  issn={1664-8021},
  volume={12(2021) vom: Mai},
  number={Artikel-ID 662751},
  note={Gesehen am 04.08.2021},
  journal={Frontiers in genetics},
  doi={10.3389/fgene.2021.662751},
}
@article{UBHD-67821445,
  author={Liu, Wei and Haas, Dorothea},
  title={A highly sensitive method for analysis of 7-dehydrocholesterol for the study of Smith-Lemli-Opitz syndrome},
  year={2014},
  pages={329-337},
  language={eng},
  issn={1539-7262},
  volume={55},
  number={2},
  note={Gesehen am 22.05.2015},
  journal={Journal of lipid research},
  doi={10.1194/jlr.D043877},
}
@article{UBHD-68739471,
  author={Liu, Wei and Xu, Libin and Lamberson, Connor R. and Merkens, Louise S. and Steiner, Robert D. and Elias, Ellen R. and Haas, Dorothea and Porter, Ned A.},
  title={Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients},
  year={2013},
  pages={244-253},
  language={eng},
  issn={1539-7262},
  volume={54},
  number={1 vom: Jan.},
  note={ Available online 4 January 2021 ;  Published, JLR Papers in Press, October 16, 2012 ; Gesehen am 19.05.2021},
  journal={Journal of lipid research},
  doi={10.1194/jlr.M031732},
}
@article{UBHD-69067561,
  author={Meyer, Sascha and Acquaviva, Cécile and Shamdeen, Mohammed Ghiath and Haas, Dorothea and Vianey-Saban, Christine},
  title={A novel missense mutation in a neonate with nonketotic hyperglycinemia},
  year={2010},
  pages={363-367},
  language={eng},
  issn={1873-5150},
  volume={43},
  number={5 vom: Nov.},
  note={Gesehen am 20.04.2023},
  journal={Pediatric neurology},
  doi={10.1016/j.pediatrneurol.2010.05.025},
}
@article{UBHD-68405757,
  author={Monostori, Péter and Klinke, Glynis and Garbade, Sven and Hoffmann, Georg F. and Langhans, Claus-Dieter and Haas, Dorothea and Okun, J{\"u}rgen G.},
  title={Extended diagnosis of purine and pyrimidine disorders from urine},
  subtitle={LC MS/MS assay development and clinical validation},
  year={2019},
  pages={17 S.},
  language={eng},
  issn={1932-6203},
  volume={14(2019},
  note={Gesehen am 08.07.2019},
  journal={PLOS ONE},
  doi={10.1371/journal.pone.0212458},
  url={https://doi.org/10.1371/journal.pone.0212458},
  library={UB},
}
@article{UBHD-68784520,
  author={M{\"u}tze, Ulrike and Walter, Magdalena and Keller, Mareike and Gramer, Gwendolyn and Garbade, Sven and Gleich, Florian and Haas, Dorothea and Posset, Roland and Gr{\"u}nert, Sarah C. and Hennermann, Julia B. and Thimm, Eva and Fang-Hoffmann, Junmin and Syrbe, Steffen and Okun, J{\"u}rgen G. and Hoffmann, Georg F. and K{\"o}lker, Stefan},
  title={Health outcomes of infants with vitamin B12 deficiency identified by newborn screening and early treated},
  year={2021},
  pages={42-48},
  language={eng},
  issn={1097-6833},
  volume={235(2021) vom: Aug.},
  note={Im Titel ist die Zahl 12 tiefgestellt ; Gesehen am 29.09.2021},
  journal={The journal of pediatrics},
  doi={10.1016/j.jpeds.2021.02.009},
}
@article{UBHD-69346455,
  author={M{\"u}tze, Ulrike and Gleich, Florian and Haas, Dorothea and Urschitz, Michael S. and R{\"o}schinger, Wulf and Janzen, Nils and Hoffmann, Georg F. and Garbade, Sven and Syrbe, Steffen and K{\"o}lker, Stefan},
  title={Vitamin B12 deficiency newborn screening},
  year={2024},
  pages={1-10},
  language={eng},
  issn={1098-4275},
  volume={154},
  note={Online verf{\"u}gbar: 23. Juli 2024 ; Im Titel ist 12 tiefgestellt ; Gesehen am 20.05.2025},
  journal={Pediatrics},
  doi={10.1542/peds.2023-064809},
}
@article{UBHD-67672315,
  author={Opladen, Thomas and Sengupta, Devjani and Moog, Ute and Fischer, Christine and B{\"u}rger, Friederike and Haas, Dorothea and Harting, Inga and Hoffmann, Georg F.},
  title={Aspartylglucosaminuria},
  subtitle={unusual neonatal presentation in qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family},
  year={2014},
  pages={36-42},
  language={eng},
  issn={1708-8283},
  volume={29},
  number={1},
  note={Gesehen am 10.09.2014},
  journal={Journal of child neurology},
  doi={10.1177/0883073812469049},
}
@article{UBHD-68862000,
  author={Pavlou, Evangelos and Augoustides-Savvopoulou, Persephone and Gregersen, Niels and Haas, Dorothea and Gkampeta, Anastasia and Athanassiadou-Piperopoulou, Fani},
  title={An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder},
  year={2013},
  pages={668-671},
  language={eng},
  issn={1708-8283},
  volume={28},
  number={5},
  note={First published July 17, 2012 ; Gesehen am 03.01.2022},
  journal={Journal of child neurology},
  doi={10.1177/0883073812449070},
}
@article{UBHD-68426708,
  author={Pilotto, Andrea and Blau, Nenad and Leks, Edytha and Schulte, Claudia and Deuschl, Christian and Zipser, Carl and Piel, David and Freisinger, Peter and Gramer, Gwendolyn and K{\"o}lker, Stefan and Haas, Dorothea and Burgard, Peter and Nawroth, Peter and Hoffmann, Georg F. and Scheffler, Klaus and Berg, Daniela and Trefz, Friedrich K.},
  title={Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria},
  year={2019},
  pages={398-406},
  language={eng},
  issn={1573-2665},
  volume={42},
  number={3},
  note={Gesehen am 04.09.2019},
  journal={Journal of inherited metabolic disease},
  doi={10.1002/jimd.12049},
}
@article{UBHD-68675934,
  author={Prietsch, Viola and Mayatepek, Ertan and Krastel, Hermann and Haas, Dorothea and Zundel, Dorothee and Waterham, Hans R. and Wanders, Ronald J. A. and Gibson, K. Michael and Hoffmann, Georg F.},
  title={Mevalonate kinase deficiency},
  subtitle={enlarging the clinical and biochemical spectrum},
  year={2003},
  pages={258-261},
  language={eng},
  issn={1098-4275},
  volume={111},
  number={2},
  note={Gesehen am 22.12.2020},
  journal={Pediatrics},
  doi={10.1542/peds.111.2.258},
}
@article{UBHD-68970956,
  author={Sauer, Sven and Merle, Uta and Opp, Silvana and Haas, Dorothea and Hoffmann, Georg F. and Stremmel, Wolfgang and Okun, J{\"u}rgen G.},
  title={Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b−/− mice as a model for Wilson disease},
  year={2011},
  pages={1607-1615},
  language={eng},
  issn={1879-260X},
  volume={1812},
  number={12},
  note={Gesehen am 06.10.2022 ; Im Titel ist der Ausdruck "-/-" hochgestellt},
  journal={Biochimica et biophysica acta},
  doi={10.1016/j.bbadis.2011.08.011},
}
@article{UBHD-69084876,
  author={Schmelzer, Constance and Okun, J{\"u}rgen G. and Haas, Dorothea and Higuchi, Keiichi and Sawashita, Jinko and Mori, Masayuki and D{\"o}ring, Frank},
  title={The reduced form of coenzyme Q10 mediates distinct effects on cholesterol metabolism at the transcriptional and metabolite level in SAMP1 mice},
  year={2010},
  pages={812-818},
  language={eng},
  issn={1521-6551},
  volume={62},
  number={11 vom: Nov.},
  note={Gesehen am 13.06.2023},
  journal={IUBMB life},
  doi={10.1002/iub.388},
}
@article{UBHD-68972882,
  author={Schmelzer, Constance and Niklowitz, Petra and Okun, J{\"u}rgen G. and Haas, Dorothea and Menke, Thomas and D{\"o}ring, Frank},
  title={Ubiquinol-induced gene expression signatures are translated into altered parameters of erythropoiesis and reduced low density lipoprotein cholesterol levels in humans},
  year={2011},
  pages={42-48},
  language={eng},
  issn={1521-6551},
  volume={63},
  number={1},
  note={Gesehen am 12.10.2022},
  journal={IUBMB life},
  doi={10.1002/iub.413},
}
@article{UBHD-69124833,
  author={Schnabel-Besson, Elena and K{\"o}lker, Stefan and Gleich, Florian and Feyh, Patrik and H{\"o}rster, Friederike and Haas, Dorothea and Fang-Hoffmann, Junmin and Morath, Marina and Gramer, Gwendolyn and R{\"o}schinger, Wulf and Garbade, Sven and Hoffmann, Georg F. and Okun, J{\"u}rgen G. and M{\"u}tze, Ulrike},
  title={Combined newborn screening allows comprehensive identification also of attenuated phenotypes for methylmalonic acidurias and homocystinuria},
  year={2023},
  pages={1-15},
  language={eng},
  issn={2072-6643},
  volume={15},
  note={Ver{\"o}ffentlicht: 28. Juli 2023 ; Gesehen am 27.09.2023},
  journal={Nutrients},
  doi={10.3390/nu15153355},
}
@article{UBHD-68297416,
  author={Schrank, Bertold and Haas, Dorothea},
  title={Dropped head syndrom als Folge einer behandelbaren metabolischen Myopathie},
  year={2017},
  pages={102-106},
  language={ger},
  issn={1439-4081},
  volume={48},
  number={02},
  note={Gesehen am 21.08.2018},
  journal={Klinische Neurophysiologie},
  doi={10.1055/s-0043-107738},
}
@book{UBHD-67672298,
  editor={Haas, Dorothea},
  title={Das SLO-Syndrom},
  subtitle={ein Ratgeber f{\"u}r Eltern und {\"A}rzte},
  publisher={Mabuse-Verl.},
  address={Frankfurt a. Main},
  year={2013},
  pages={113 S.},
  language={ger},
  isbn={978-3-86321-158-5},
  note={Literaturangaben},
}
@article{UBHD-68975339,
  author={Smits, Paulien and Saada, Ann and Wortmann, Saskia B. and Heister, Angelien J. and Brink, Maaike and Pfundt, Rolph and Miller, Chaya and Haas, Dorothea and Hantschmann, Ralph and Rodenburg, Richard J. T. and Smeitink, Jan A. M. and van den Heuvel, Lambert P.},
  title={Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy},
  year={2011},
  pages={394-399},
  language={eng},
  issn={1476-5438},
  volume={19},
  number={4},
  note={online ver{\"o}ffentlicht 29 December 2010 ; Gesehen am 18.10.2022},
  journal={European journal of human genetics},
  doi={10.1038/ejhg.2010.214},
}
@article{UBHD-68576392,
  author={Staufner, Christian and Lindner, Martin and Straub, Beate Katharina and K{\"o}lker, Stefan and Haas, Dorothea and Hoffmann, Georg F.},
  title={Adenosine kinase deficiency},
  subtitle={expanding the clinical spectrum and evaluating therapeutic options},
  year={2016},
  pages={273-283},
  language={eng},
  issn={1573-2665},
  volume={39},
  number={2},
  note={Published online: 7 December 2015 ; Gesehen am 13.05.2020},
  journal={Journal of inherited metabolic disease},
  doi={10.1007/s10545-015-9904-y},
}
@article{UBHD-69322496,
  author={Trefz, Friedrich K. and Frauendienst-Egger, Georg and Dienel, Gerald and Cannet, Claire and Schmidt-Mader, Brigitte and Haas, Dorothea and Blau, Nenad and Himmelreich, Nastassja and Spraul, Manfred and Freisinger, Peter and Dobrowolski, Steven and Berg, Daniela and Pilotto, Andrea},
  title={Does hyperphenylalaninemia induce brain glucose hypometabolism?},
  subtitle={ Cerebral spinal fluid findings in treated adult phenylketonuric patients},
  year={2024},
  pages={1-11},
  language={eng},
  issn={1096-7206},
  volume={142},
  note={Gesehen am 26.03.2025},
  journal={Molecular genetics and metabolism},
  doi={10.1016/j.ymgme.2024.108464},
}
@article{UBHD-67906669,
  author={Vinkler, Chana and Haas, Dorothea},
  title={A newly recognized syndrome of severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features},
  year={2014},
  pages={288-292},
  language={eng},
  issn={1878-0849},
  volume={57},
  number={6},
  note={Gesehen am 24.11.2015},
  journal={European journal of medical genetics},
  doi={10.1016/j.ejmg.2014.03.010},
}
@article{UBHD-68882389,
  author={Wegberg, Annemiek M. J. van and Trefz, Friedrich K. and Gizewska, Maria and Ahmed, Sibtain and Chabraoui, Layachi and Zaki, Maha S. and Maillot, François and van Spronsen,  Francjan J. and Haas, Dorothea and Gramer, Gwendolyn},
  title={Undiagnosed phenylketonuria can exist everywhere},
  subtitle={results from an international survey},
  year={2021},
  pages={6 S.},
  language={eng},
  issn={1097-6833},
  volume={239(2021) Seite 231-234},
  note={Additional members of the Study Group on Missed PKU and Missed to Follow-Up: D. Haas, G. Gramer [und andere] ; Gesehen am 09.03.2022},
  journal={The journal of pediatrics},
  doi={10.1016/j.jpeds.2021.08.070},
}
@article{UBHD-68803072,
  author={Witsch-Baumgartner, Martina and Sawyer, Hilary and Haas, Dorothea},
  title={Clinical utility gene card for Smith-Lemli-Opitz Syndrome [SLOS]},
  year={2013},
  pages={891-894},
  language={eng},
  issn={1476-5438},
  volume={21},
  number={8},
  note={Gesehen am 18.11.2021},
  journal={European journal of human genetics},
  doi={10.1038/ejhg.2012.255},
}
@article{UBHD-68498037,
  author={Yu, Qiuliyang and Xue, Lin and Hiblot, Julien and Griss, Rudolf and Fabritz, Sebastian and Roux, Clothilde and Binz, Pierre-Alain and Haas, Dorothea and Okun, J{\"u}rgen G. and Johnsson, Kai},
  title={Semisynthetic sensor proteins enable metabolic assays at the point of care},
  year={2018},
  pages={1122-1126},
  language={eng},
  issn={1095-9203},
  volume={361},
  number={6407},
  note={Gesehen am 05.03.2020},
  journal={Science},
  doi={10.1126/science.aat7992},
}