Publications

Mütze, U; Gleich, F; Barić, I; Baumgartner, M; Burlina, A; Chapman, K A; Chien, Y; Cortès-Saladelafont, E; De Laet, C; Dobbelaere, D; Eysken, F; Gautschi, M; Santer, R; Häberle, J; Joaquín, C; Karall, D; Lindner, M; Lund, A M; Mühlhausen, C; Murphy, E; ... (2023). Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases - data from the E-IMD consortium. Journal of inherited metabolic disease, 46(2), pp. 220-231. Wiley 10.1002/jimd.12572

Saner, Christoph; Senior, Alistair M; Zhang, Hanyue; Eloranta, Aino-Maija; Magnussen, Costan G; Sabin, Matthew A; Juonala, Markus; Janner, Marco; Burgner, David P; Schwab, Ursula; Haapala, Eero A; Heitmann, Berit L; Simpson, Stephen J; Raubenheimer, David; Lakka, Timo A (2023). Evidence for protein leverage in a general population sample of children and adolescents. (In Press). European journal of clinical nutrition Springer Nature 10.1038/s41430-023-01276-w

Lucas, Cécily; Sauter, Kay-Sara; Steigert, Michael; Mallet, Delphine; Wilmouth, James; Olabe, Julie; Plotton, Ingrid; Morel, Yves; Aeberli, Daniel; Wagner, Franca; Clevers, Hans; Pandey, Amit V; Val, Pierre; Roucher-Boulez, Florence; Fluck, Christa E (2023). Loss of LGR4/GPR48 causes severe neonatal salt-wasting due to disrupted WNT signaling altering adrenal zonation. The journal of clinical investigation, 133(4) American Society for Clinical Investigation 10.1172/JCI164915

Pignatti, Emanuele; Du Toit, Therina; Flück, Christa E (2023). Development and function of the fetal adrenal. Reviews in endocrine and metabolic disorders, 24(1), pp. 5-21. Springer 10.1007/s11154-022-09756-3

Raftopoulou, Christina; Abawi, Ozair; Sommer, Grit; Binou, Maria; Paltoglou, George; Flück, Christa E; van den Akker, Erica L T; Charmandari, E (2023). Leukocyte Telomere Length in Children with Congenital Adrenal Hyperplasia. The journal of clinical endocrinology and metabolism, 108(2), pp. 443-452. Oxford University Press 10.1210/clinem/dgac560

Flury, Monika; Eckert, Alexander; Datz, Nicolin; Kapellen, Thomas; Boettcher, Claudia; Raile, Klemens; Wolf, Johannes; Rami-Merhar, Birgit; Karges, Beate; Neu, Andreas; Holl, Reinhard Walter (2023). Entwicklung der Insulintherapie in der pädiatrischen Diabetologie-Auswertung des DPV-Registers von 1995-2021 (In Press). Diabetologie und Stoffwechsel Thieme 10.1055/a-2004-4449

Flück, Christa E; Kuiri-Hänninen, Tanja; Silvennoinen, Sanna; Sankilampi, Ulla; Groessl, Michael (2022). The androgen metabolome of preterm infants reflects fetal adrenal gland involution. The journal of clinical endocrinology and metabolism, 107(11), pp. 3111-3119. Oxford University Press 10.1210/clinem/dgac482

Boettcher, Claudia; Burckardt, Marie-Anne; Heldt, Kathrin; Bachmann, Sara; Lang-Muritano, Mariarosaria; Hauschild, Michael; Klee, Philippe; Dirlewanger, Mirjam; Schwitzgebel, Valérie M. (2022). Aktuelle Herausforderungen in der Therapie des Typ-1-Diabetes beim Kind. Swiss medical forum, 22(47), pp. 767-771. EMH Schweizerischer Ärzteverlag AG 10.4414/smf.2022.09285

van Iersel, Laura; Mulder, Renee L; Denzer, Christian; Cohen, Laurie E; Spoudeas, Helen A; Meacham, Lillian R; Sugden, Elaine; Schouten-van Meeteren, Antoinette Y N; Hoving, Eelco W; Packer, Roger J; Armstrong, Gregory T; Mostoufi-Moab, Sogol; Stades, Aline M; van Vuurden, Dannis; Janssens, Geert O; Thomas-Teinturier, Cécile; Murray, Robert D; Di Iorgi, Natascia; Neggers, Sebastian J C M M; Thompson, Joel; ... (2022). Hypothalamic-Pituitary and Other Endocrine Surveillance Among Childhood Cancer Survivors. Endocrine reviews, 43(5), pp. 794-823. Oxford University Press 10.1210/endrev/bnab040

Derks, Britt; Demirbas, Didem; Arantes, Rodrigo R; Banford, Samantha; Burlina, Alberto B; Cabrera, Analía; Chiesa, Ana; Couce, M Luz; Dionisi-Vici, Carlo; Gautschi, Matthias; Grünewald, Stephanie; Morava, Eva; Möslinger, Dorothea; Scholl-Bürgi, Sabine; Skouma, Anastasia; Stepien, Karolina M; Timson, David J; Berry, Gerard T; Rubio-Gozalbo, M Estela (2022). Galactose epimerase deficiency: lessons from the GalNet registry. Orphanet journal of rare diseases, 17(1), p. 331. BioMed Central 10.1186/s13023-022-02494-4

Laemmle, Alexander; Poms, Martin; Hsu, Bernadette; Borsuk, Mariia; Rüfenacht, Véronique; Robinson, Joshua; Sadowski, Martin C.; Nuoffer, Jean-Marc; Häberle, Johannes; Willenbring, Holger (2022). Aquaporin 9 Induction in Human iPSC-derived Hepatocytes Facilitates Modeling of Ornithine Transcarbamylase Deficiency. Hepatology, 76(3), pp. 646-659. Wiley 10.1002/hep.32247

Dennig, Michelle J; Sommer, Grit; Zingg, Tanja; Flück, Christa E; Böttcher, Claudia (2022). Stable Metabolic Control but Increased Demand for Professional Support in Children with Type 1 Diabetes in the Past Ten Years in Bern/Switzerland: A Quality Control Study. Journal of diabetes research, 2022(3170558), p. 3170558. Hindawi 10.1155/2022/3170558

Ilic, Anica; Roser, Katharina; Sommer, Grit; Baenziger, Julia; Mitter, Vera Ruth; Mader, Luzius; Dyntar, Daniela; Michel, Gisela (2022). COVID-19 Information-Seeking, Health Literacy, and Worry and Anxiety During the Early Stage of the Pandemic in Switzerland: A Cross-Sectional Study. International journal of public health, 67, p. 1604717. Frontiers 10.3389/ijph.2022.1604717

Deng, Haibin; Gao, Yanyun; Trappetti, Verdiana; Hertig, Damian; Karatkevich, Darya; Losmanová, Tereza; Urzì, Christian; Ge, Huixiang; Geest, Gerrit Adriaan; Bruggmann, Remy; Djonov, Valentin; Nuoffer, Jean-Marc; Vermathen, Peter; Zamboni, Nicola; Riether, Carsten; Ochsenbein, Adrian; Peng, Ren-Wang; Kocher, Gregor Jan; Schmid, Ralph; Dorn, Patrick; ... (2022). Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damage. Cellular and molecular life sciences, 79(8), p. 445. SP Birkhäuser Verlag Basel 10.1007/s00018-022-04453-5

Pignatti, Emanuele; Altinkiliç, Emre Murat; Bräutigam, Konstantin; Grössl, Michael; Perren, Aurel; Zavolan, Mihaela; Flück, Christa E (2022). Cholesterol deprivation drives DHEA biosynthesis in human adrenals. Endocrinology, 163(7) Endocrine Society 10.1210/endocr/bqac076

Magyar, Benjamin P; Santi, Maristella; Sommer, Grit; Nuoffer, Jean-Marc; Leichtle, Alexander; Grössl, Michael; Fluck, Christa E (2022). Short-Term Fasting Attenuates Overall Steroid Hormone Biosynthesis in Healthy Young Women. Journal of the Endocrine Society, 6(7), bvac075. Oxford University Press 10.1210/jendso/bvac075

Kamrath, Clemens; Tittel, Sascha R; Dunstheimer, Desiree; Fröhlich-Reiterer, Elke; Freff, Markus; Böttcher, Claudia; Scheffler, Nadine; Lenze, Stefanie; Gericke, Elke; Thiele, Susanne; Holl, Reinhard W (2022). Early vs late histological confirmation of coeliac disease in children with new-onset type 1 diabetes. Diabetologia, 65(7), pp. 1108-1118. Springer 10.1007/s00125-022-05701-w

Na'Amneh Elzenaty, Rawda; Du Toit, Therina; Flück, Christa (2022). Basics of androgen synthesis and action. Best practice & research. Clinical endocrinology & metabolism, 36(4), p. 101665. Elsevier 10.1016/j.beem.2022.101665

Urzì, Christian; Hertig, Damian; Meyer, Christoph; Maddah, Sally; Nuoffer, Jean-Marc; Vermathen, Peter (2022). Determination of Intra- and Extracellular Metabolic Adaptations of 3D Cell Cultures upon Challenges in Real-Time by NMR. International journal of molecular sciences, 23(12), p. 6555. MDPI 10.3390/ijms23126555

Wabitsch, Martin; Farooqi, Sadaf; Flück, Christa E; Bratina, Natasa; Mallya, Usha G; Stewart, Murray; Garrison, Jill; van den Akker, Erica; Kühnen, Peter (2022). Natural History of Obesity Due to POMC, PCSK1, and LEPR Deficiency and the Impact of Setmelanotide. Journal of the Endocrine Society, 6(6), bvac057. Oxford University Press 10.1210/jendso/bvac057

Nava, Esmeralda; Hartmann, Britta; Boxheimer, Larissa; Capone Mori, Andrea; Nuoffer, Jean-Marc; Sargsyan, Yelena; Thoms, Sven; Rosewich, Hendrik; Boltshauser, Eugen (2022). How to Detect Isolated PEX10-Related Cerebellar Ataxia? Neuropediatrics, 53(3), pp. 159-166. Thieme 10.1055/s-0041-1741383

Bösch, Florin; Landolt, Markus A; Baumgartner, Matthias R; Fernandez, Susana; Forny, Patrick; Gautschi, Matthias; Grünert, Sarah C; Häberle, Johannes; Horvath, Carolina; Karall, Daniela; Lampis, Danila; Rohrbach, Marianne; Scholl-Bürgi, Sabine; Szinnai, Gabor; Huemer, Martina (2022). Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism. Molecular genetics and metabolism reports, 31, p. 100876. Elsevier 10.1016/j.ymgmr.2022.100876

de Laffolie, Jan; Kamrath, Clemens; Burchert, Diana; Böttcher, Claudia; Wudy, Stefan Alexander; Zimmer, Klaus-Peter (2022). Reversible severe glycogenic hepatopathy in type 1 diabetes. Wiener medizinische Wochenschrift, 172(5-6), pp. 144-147. Springer 10.1007/s10354-020-00795-6

Laemmle, Alexander; Häberle, Johannes; Willenbring, Holger (2022). Reply to "The Role of Aquaporin 9 in Modeling of Ornithine Transcarbamylase Deficiency". Hepatology, 75(4), pp. 1059-1060. Wiley 10.1002/hep.32290

Mathis, Tamara; Poms, Martin; Köfeler, Harald; Gautschi, Matthias; Plecko, Barbara; Baumgartner, Matthias R; Hochuli, Michel (2022). Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I. Journal of inherited metabolic disease, 45(2), pp. 235-247. Wiley 10.1002/jimd.12451

Troger, Tobias; Sommer, Grit; Lang-Muritano, Mariarosaria; Konrad, Daniel; Kuhlmann, Beatrice; Zumsteg, Urs; Flück, Christa E. (2022). Characteristics of growth in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency during adrenarche and beyond. The journal of clinical endocrinology and metabolism, 107(2), e487-e499. Oxford University Press 10.1210/clinem/dgab701

Claahsen-van der Grinten, Hedi L; Speiser, Phyllis W; Ahmed, S Faisal; Arlt, Wiebke; Auchus, Richard J; Falhammar, Henrik; Flück, Christa E; Guasti, Leonardo; Huebner, Angela; Kortmann, Barbara B M; Krone, Nils; Merke, Deborah P; Miller, Walter L; Nordenström, Anna; Reisch, Nicole; Sandberg, David E; Stikkelbroeck, Nike M M L; Touraine, Philippe; Utari, Agustini; Wudy, Stefan A; ... (2022). Congenital adrenal hyperplasia - current insights in pathophysiology, diagnostics and management. Endocrine reviews, 43(1), pp. 91-159. Oxford University Press 10.1210/endrev/bnab016

Boettcher, Claudia; Flück, Christa E. (2022). Rare forms of genetic steroidogenic defects affecting the gonads and adrenals. Best practice & research. Clinical endocrinology & metabolism, 36(1), p. 101593. Elsevier 10.1016/j.beem.2021.101593

Janner, Marco; Saner, Christoph (2022). Impact of Type 1 Diabetes Mellitus on Bone Health in Children. Hormone research in paediatrics, 95(3), pp. 205-214. Karger 10.1159/000521627

Korten, Insa; Kieninger, Elisabeth; Krueger, Linn; Bullo, Marina; Flück, Christa E; Latzin, Philipp; Casaulta, Carmen; Boettcher, Claudia (2022). Short-Term Effects of Elexacaftor/Tezacaftor/Ivacaftor Combination on Glucose Tolerance in Young People With Cystic Fibrosis—An Observational Pilot Study. Frontiers in Pediatrics, 10 Frontiers 10.3389/fped.2022.852551

Saner, Christoph; Flück, Christa E (2022). Normale und gestörte Pubertät: Diagnostik und Therapie. In: Costa, Serban-Dan; Scharl, Anton; Stute, Petra; Janni, Wolfgang (eds.) Die Gynäkologie. Springer Reference Medizin (pp. 1-13). Berlin, Heidelberg: Springer 10.1007/978-3-662-47329-0_13-1

Madhavarapu, Abhinav; Zacharin, Margaret; Flück, Christa E; Saner, Christoph (2022). Adherence to Growth Hormone-Determined by a Consensual, Center-Based Supply-Associates with Height Outcomes in Youth. Archives of Pediatrics, 7(2) Gavin Publishers 10.29011/2575-825X.100218

Martinez de LaPiscina, Idoia; Flück, Christa E. (2021). Genetics of human sexual development and related disorders. Current opinion in pediatrics, 33(6), pp. 556-563. Wolters Kluwer Health 10.1097/MOP.0000000000001066

Laemmle, Alexander; Steck, Andrea Lisa; Schaller, André; Kurth, Sandra; Perret Hoigné, Eveline; Felser, Andrea Deborah; Slavova, Nedelina; Salvisberg, Claudia; Atencio, Mariana; Mochel, Fanny; Nuoffer, Jean-Marc; Gautschi, Matthias (2021). Triheptanoin - Novel therapeutic approach for the ultra-rare disease mitochondrial malate dehydrogenase deficiency. Molecular genetics and metabolism reports, 29, p. 100814. Elsevier 10.1016/j.ymgmr.2021.100814

Boettcher, Claudia; Tittel, Sascha R; Meissner, Thomas; Gohlke, Bettina; Stachow, Rainer; Dost, Axel; Wunderlich, Sybille; Lowak, Iris; Lanzinger, Stefanie (2021). Sex differences over time for glycemic control, pump use and insulin dose in patients aged 10-40 years with type 1 diabetes: a diabetes registry study. BMJ open diabetes research & care, 9(2) BMJ Publishing Group 10.1136/bmjdrc-2021-002494

Mengel, Eugen; Patterson, Marc C; Da Riol, Rosalia M; Del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Grønborg, Sabine; Harmatz, Paul; Héron, Bénédicte; Maier, Esther M; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Andreasen, Anne Katrine; Geist, Marie Aavang; Havnsøe Torp Petersen, Nikolaj; Ingemann, Linda; Hansen, Thomas; ... (2021). Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatment. Journal of inherited metabolic disease, 44(6), pp. 1463-1480. Wiley 10.1002/jimd.12428

Koch, Gilbert; Steffens, Britta; Leroux, Stephanie; Gotta, Verena; Schropp, Johannes; Gächter, Pascal; Bachmann, Freya; Welzel, Tatjana; Janner, Marco; L'Allemand, Dagmar; Konrad, Daniel; Szinnai, Gabor; Pfister, Marc (2021). Modeling of levothyroxine in newborns and infants with congenital hypothyroidism: challenges and opportunities of a rare disease multi-center study. Journal of pharmacokinetics and pharmacodynamics, 48(5), pp. 711-723. Springer 10.1007/s10928-021-09765-w

Guran, Tulay; Flück Pandey, Christa Emma (2021). Introduction (In Press). Hormone research in paediatrics Karger 10.1159/000519896

Kouri, Chrysanthi; Sommer, Grit; Flück, Christa E. (2021). Oligogenic causes of human differences of sex development: Facing the challenge of genetic complexity. (In Press). Hormone research in paediatrics, pp. 279-289. Karger 10.1159/000519691

Puder, Lia; Roth, Sophie; Krabusch, Philipp; Wiegand, Susanna; Opitz, Robert; Bald, Martin; Flück, Christa; Schulz, Esther; Voss, Egbert; Markó, Lajos; Linz, Peter; Berger, Felix; Müller, Dominik N; Kuehne, Titus; Litt, Michael J; Cone, Roger D; Kühnen, Peter; Kelm, Marcus (2021). Cardiac Phenotype and Tissue Sodium Content in Adolescents With Defects in the Melanocortin System. The journal of clinical endocrinology and metabolism, 106(9), pp. 2606-2616. Oxford University Press 10.1210/clinem/dgab368

Santi, Maristella; Flück Pandey, Christa E.; Hauschild, Michael; Kuhlmann, Beatrice; Kuehni, Claudia E.; Sommer, Grit (2021). Health behavior of women with Turner Syndrome. Acta paediatrica, 110(8), pp. 2424-2429. Wiley 10.1111/apa.15814

Poitou, Christine; Puder, Lia; Dubern, Beatrice; Krabusch, Philipp; Genser, Laurent; Wiegand, Susanna; Verkindt, Hélène; Köhn, Arvid; von Schwartzenberg, Reiner Jumpertz; Flück, Christa; Pattou, François; Laville, Martine; Kühnen, Peter; Clément, Karine (2021). Long-term outcomes of bariatric surgery in patients with bi-allelic mutations in the POMC, LEPR, and MC4R genes. Surgery for obesity and related diseases, 17(8), pp. 1449-1456. Elsevier 10.1016/j.soard.2021.04.020

Hertig, Damian; Maddah, Sally; Memedovski, Roman; Kurth, Sandra; Moreno, Aitor; Pennestri, Matteo; Felser, Andrea; Nuoffer, Jean-Marc; Vermathen, Peter (2021). Live monitoring of cellular metabolism and mitochondrial respiration in 3D cell culture system using NMR spectroscopy. Analyst, 146(13), pp. 4326-4339. Royal Society of Chemistry 10.1039/d1an00041a

Longmore, Danielle K; Miller, Jessica E; Bekkering, Siroon; Saner, Christoph; Mifsud, Edin; Zhu, Yanshan; Saffery, Richard; Nichol, Alistair; Colditz, Graham; Short, Kirsty R; Burgner, David P (2021). Diabetes and Overweight/Obesity Are Independent, Nonadditive Risk Factors for In-Hospital Severity of COVID-19: An International, Multicenter Retrospective Meta-analysis. Diabetes care, 44(6), pp. 1281-1290. American Diabetes Association 10.2337/dc20-2676

Pignatti, Emanuele; Flück, Christa E. (2021). Adrenal cortex development and related disorders leading to adrenal insufficiency. Molecular and cellular endocrinology, 527, p. 111206. Elsevier Ireland 10.1016/j.mce.2021.111206

Santi, Maristella; Grafmüller, Stefanie; Zeino, Mazen; Cools, Martine; Van De Vijver, Koen; Trippel, Mafalda; Aliu, Nijas; Flück, Christa E (2021). Approach to the Virilizing Girl at Puberty. The Journal of clinical endocrinology and metabolism, 106(5), pp. 1530-1539. Oxford University Press 10.1210/clinem/dgaa948

Lämmle, Alexander (2021). Editorial. Paediatrica, 32 Schweizerische Gesellschaft für Pädiatrie SGP

Karahoda, Rona; Kallol, Sampada; Groessl, Michael; Ontsouka, Edgar; Anderle, Pascale; Fluck, Christa; Staud, Frantisek; Albrecht, Christiane (2021). Revisiting Steroidogenic Pathways in the Human Placenta and Primary Human Trophoblast Cells. International journal of molecular sciences, 22(4) MDPI 10.3390/ijms22041704

Calaminus, Gabriele; Baust, Katja; Berger, Claire; Byrne, Julianne; Binder, Harald; Casagranda, Leonie; Grabow, Desiree; Grootenhuis, Martha; Kaatsch, Peter; Kaiser, Melanie; Kepak, Tomas; Kepáková, Kateřina; Kremer, Leontien C M; Kruseova, Jarmila; Luks, Ales; Spix, Claudia; van den Berg, Marleen; van den Heuvel-Eibrink, Marry M M; van Dulmen-den Broeder, Eline; Kuonen, Rahel; ... (2021). Health-Related Quality of Life in European Childhood Cancer Survivors: Protocol for a Study Within PanCareLIFE. JMIR research protocols, 10(1), e21851. JMIR Publications 10.2196/21851

Rubio-Gozalbo, M Estela; Derks, Britt; Das, Anibh Martin; Meyer, Uta; Möslinger, Dorothea; Couce, M Luz; Empain, Aurélie; Ficicioglu, Can; Juliá Palacios, Natalia; De Los Santos De Pelegrin, Mariela M; Rivera, Isabel A; Scholl-Bürgi, Sabine; Bosch, Annet M; Cassiman, David; Demirbas, Didem; Gautschi, Matthias; Knerr, Ina; Labrune, Philippe; Skouma, Anastasia; Verloo, Patrick; ... (2021). Galactokinase deficiency: lessons from the GalNet registry. Genetics in medicine, 23(1), pp. 202-210. Springer Nature 10.1038/s41436-020-00942-9

Ali, Salma R; Bryce, Jillian; Haghpanahan, Houra; Lewsey, James D; Tan, Li En; Atapattu, Navoda; Birkebaek, Niels H; Blankenstein, Oliver; Neumann, Uta; Balsamo, Antonio; Ortolano, Rita; Bonfig, Walter; Claahsen-van der Grinten, Hedi L; Cools, Martine; Costa, Eduardo Correa; Darendeliler, Feyza; Poyrazoglu, Sukran; Elsedfy, Heba; Finken, Martijn J J; Fluck, Christa E; ... (2021). Real World Estimates Of Adrenal Insufficiency Related Adverse Events In Children With Congenital Adrenal Hyperplasia. The journal of clinical endocrinology and metabolism, 106(1), e192-e203. Oxford University Press 10.1210/clinem/dgaa694

Lee-Montiel, Felipe T; Laemmle, Alexander; Charwat, Verena; Dumont, Laure; Lee, Caleb S; Huebsch, Nathaniel; Okochi, Hideaki; Hancock, Matthew J; Siemons, Brian; Boggess, Steven C; Goswami, Ishan; Miller, Evan W; Willenbring, Holger; Healy, Kevin E (2021). Integrated Isogenic Human Induced Pluripotent Stem Cell-Based Liver and Heart Microphysiological Systems Predict Unsafe Drug-Drug Interaction. Frontiers in Pharmacology, 12, p. 667010. Frontiers 10.3389/fphar.2021.667010

Treacy, Eileen P.; Vencken, Sebastian; Bosch, Annet M.; Gautschi, Matthias; Rubio‐Gozalbo, Estela; Dawson, Charlotte; Nerney, Darragh; Colhoun, Hugh Owen; Shakerdi, Loai; Pastores, Gregory M.; O'Flaherty, Roisin; Saldova, Radka (2021). Abnormal N ‐glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake. JIMD reports, 61(1), pp. 76-88. Wiley 10.1002/jmd2.12237

Lämmle, Alexander; Schaller, André; Rusca, Nicola; Kurth, Sandra; Salvisberg, Claudia; Fuhrer Kradolfer, Katharina; Wyder, Corinne (2021). Erleichterung und Sorge, Hoffnung und Angst – der Weg zur Diagnosestellung einer SLC16A2-Mutation. Paediatrica, 32(1) Schweizerische Gesellschaft für Pädiatrie SGP 10.35190/d2021.1.2

Hebenstreit, Doris; Ahmed, S Faisal; Krone, Nils; Krall, Christoph; Bryce, Jillian; Alvi, Sabah; Ortolano, Rita; Lima, Mario; Birkebaek, Niels; Bonfig, Walter; Claahsen van der Grinten, Hedi; Costa, Eduardo Correa; Poyrazoglu, Sukran; de Vries, Liat; Flück, Christa E.; Guran, Tulay; Bugrul, Fuat; Güven, Ayla; Iotova, Violeta; Koehler, Birgit; ... (2021). Surgical Practice in Girls with Congenital Adrenal Hyperplasia: An International Registry Study. Sexual development, 15(4), pp. 229-235. Karger 10.1159/000517055

Saner, Christoph; Laitinen, Tomi T.; Nuotio, Joel; Arnup, Sarah J.; Harcourt, Brooke E.; Bekkering, Siroon; McCallum, Zoe; Kao, Kung-Ting; Janner, Marco; Magnussen, Costan G.; Sabin, Matthew A.; Juonala, Markus; Burgner, David P. (2021). Modest decrease in severity of obesity in adolescence associates with low arterial stiffness. Atherosclerosis, 335, pp. 23-30. Elsevier 10.1016/j.atherosclerosis.2021.09.013

Stock, Sarah J.; Zoega, Helga; Brockway, Meredith; Mulholland, Rachel H.; Miller, Jessica E.; Been, Jasper V.; Wood, Rachael; Abok, Ishaya I.; Alshaikh, Belal; Ayede, Adejumoke I.; Bacchini, Fabiana; Bhutta, Zulfiqar A.; Brew, Bronwyn K.; Brook, Jeffrey; Calvert, Clara; Campbell-Yeo, Marsha; Chan, Deborah; Chirombo, James; Connor, Kristin L.; Daly, Mandy; ... (2021). The international Perinatal Outcomes in the Pandemic (iPOP) study: protocol. Wellcome open research, 6, p. 21. Wellcome Trust 10.12688/wellcomeopenres.16507.1

Minger, M; Sommer, G; Mitter, V; Purtschert, L; von Wolff, M; Kohl Schwartz, Alexandra (2021). Childhood growth of singletons conceived following in vitro fertilization (IVF) - does gonadotropin-stimulation matter? Zeitschrift für Geburtshilfe und Neonatologie, 225(Suppl 1), e48-e48. Thieme

Minger, M.; Sommer, G.; Mitter, V.; Purtschert, L.; von Wolff, M.; Kohl Schwartz, A. (2021). Childhood growth of singletons conceived following in vitro fertilization (IVF) - does gonadotropin-stimulation matter? Human reproduction, 36(Suppl 1), i487-i487. Oxford University Press 10.1093/humrep/deab130.767

Mengel, Eugen; Bembi, Bruno; del Toro, Mireia; Deodato, Federica; Gautschi, Matthias; Grunewald, Stephanie; Grønborg, Sabine; Héron, Bénédicte; Maier, Esther M.; Roubertie, Agathe; Santra, Saikat; Tylki-Szymanska, Anna; Day, Simon; Symonds, Tara; Hudgens, Stacie; Patterson, Marc C.; Guldberg, Christina; Ingemann, Linda; Petersen, Nikolaj H. T.; Kirkegaard, Thomas; ... (2021). Correction to: Clinical disease progression and biomarkers in Niemann–Pick disease type C: a prospective cohort study. Orphanet journal of rare diseases, 16(1), p. 246. BioMed Central 10.1186/s13023-021-01855-9