المؤلفون: Koch, Jasmine, Broeks, Melissa H., Gautschi, Matthias, Jans, Judith, Laemmle, Alexander

المساهمون: Genetica, Genetica Sectie Metabole Diagnostiek, Cancer, Brain, Child Health

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Biochemistry, Molecular Biology, Genetics

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/454008

الاتاحة: https://dspace.library.uu.nl/handle/1874/454008

المؤلفون: Mathis, Déborah, Koch, Jasmine, Koller, Sophie, Sauter, Kay, Flück, Christa, Uldry, Anne-Christine, Forny, Patrick, Froese, D Sean, Laemmle, Alexander

المصدر: Mathis, Déborah; Koch, Jasmine; Koller, Sophie; Sauter, Kay; Flück, Christa; Uldry, Anne-Christine; Forny, Patrick; Froese, D Sean; Laemmle, Alexander (2024). Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency. Molecular genetics and metabolism reports, 39(101066) Elsevier 10.1016/j.ymgmr.2024.101066

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/193680/

الاتاحة: https://boris.unibe.ch/193680/1/1-s2.0-S2666520424000353-main.pdf
https://boris.unibe.ch/193680/

المؤلفون: Brachet, Cécile, Laemmle, Alexander, Cools, Martine, Sauter, Kay-Sara, De Baere, Elfride, Vanlander, Arnaud, Pandey, Amit V, Du Toit, Therina, Voegel, Clarissa D, Heinrichs, Claudine, Verdin, Hannah, Flück, Christa E

المصدر: Brachet, Cécile; Laemmle, Alexander; Cools, Martine; Sauter, Kay-Sara; De Baere, Elfride; Vanlander, Arnaud; Pandey, Amit V; Du Toit, Therina; Voegel, Clarissa D; Heinrichs, Claudine; Verdin, Hannah; Flück, Christa E (2024). Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant. European journal of endocrinology, 191(2), pp. 144-155. Oxford Academic 10.1093/ejendo/lvae090

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/199474/

الاتاحة: https://boris.unibe.ch/199474/1/lvae090.pdf
https://boris.unibe.ch/199474/

المؤلفون: Lämmle, Bernhard, Lämmle, Alexander

المصدر: Lämmle, Bernhard; Lämmle, Alexander (2024). Vitamin B12 deficiency misdiagnosed as TTP: What can we learn from it? (In Press). British journal of haematology Wiley-Blackwell 10.1111/bjh.19702

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/199642/

الاتاحة: https://boris.unibe.ch/199642/1/Br_J_Haematol_-_2024_-_L_mmle_-_Vitamin_B12_deficiency_misdiagnosed_as_TTP__What_can_we_learn_from_it.pdf
https://boris.unibe.ch/199642/

المؤلفون: Ramosaj, Adhuresa, Singhal, Palak, Schaller, André, Laemmle, Alexander

المصدر: Ramosaj, Adhuresa; Singhal, Palak; Schaller, André; Laemmle, Alexander (2023). Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation. Molecular genetics and metabolism reports, 37(101007), p. 101007. Elsevier 10.1016/j.ymgmr.2023.101007

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/189889/

الاتاحة: https://boris.unibe.ch/189889/1/1-s2.0-S2214426923000538-main__1_.pdf
https://boris.unibe.ch/189889/

المؤلفون: Genetica, Genetica Sectie Metabole Diagnostiek, Cancer, Brain, Child Health, Koch, Jasmine, Broeks, Melissa H., Gautschi, Matthias, Jans, Judith, Laemmle, Alexander

URL: https://doi.org/10.1016/j.ymgme.2024.108520
http://hdl.handle.net/1874/454008
http://www.scopus.com/inward/record.url?scp=85197364626&partnerID=8YFLogxK
1096-7192
Molecular Genetics and Metabolism
142
4
108520

المؤلفون: Laemmle, Alexander, Poms, Martin, Hsu, Bernadette, Borsuk, Mariia, Rüfenacht, Véronique, Robinson, Joshua, Sadowski, Martin C, Nuoffer, Jean-Marc, Häberle, Johannes, Willenbring, Holger

المصدر: 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):646-659.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health, Hepatology

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/209426/1/POMMA-Aquaporin_9_Induction_in_Human_iPSC-der.pdf; info:pmid/34786702; urn:issn:0270-9139

الاتاحة: https://www.zora.uzh.ch/id/eprint/209426/
https://doi.org/10.1002/hep.32247

المؤلفون: Laemmle, Alexander, Häberle, Johannes, Willenbring, Holger

المصدر: 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

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/164006/

الاتاحة: https://boris.unibe.ch/164006/1/2021_-_Laemmle_-_Reply_to_The_Role_of_Aquaporin_9_in_Modeling_of_Ornithine_Transcarbamylase_Deficiency.Hepatology.pdf
https://boris.unibe.ch/164006/

المؤلفون: Lämmle, Alexander, Häberle, Johannes

المصدر: Lämmle, Alexander; Häberle, Johannes (2024). Dyslipidämien im Kindesalter. Pädiatrie, 23(3), pp. 24-27. Rosenfluh

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/196157/

الاتاحة: https://boris.unibe.ch/196157/1/Dyslipidaemien-im-Kindesalter.pdf
https://boris.unibe.ch/196157/
https://www.rosenfluh.ch/paediatrie-2023-03

المؤلفون: Lämmle, Alexander, Schaller, André, Rusca, Nicola, Kurth, Sandra, Salvisberg, Claudia, Fuhrer Kradolfer, Katharina, Wyder, Corinne

المصدر: 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

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/161512/

الاتاحة: https://boris.unibe.ch/161512/1/32_1_2021_3_de.pdf
https://boris.unibe.ch/161512/

المؤلفون: 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

المصدر: 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

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/160497/

الاتاحة: https://boris.unibe.ch/160497/1/2021_Laemmle.pdf
https://boris.unibe.ch/160497/

المؤلفون: 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

المصدر: 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

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/157168/

الاتاحة: https://boris.unibe.ch/157168/1/Integrated_Isogenic_Human_Induced_puripotent_stemm_cell.pdf
https://boris.unibe.ch/157168/

المؤلفون: 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.

المصدر: Frontiers in Pharmacology ; volume 12 ; ISSN 1663-9812

الاتاحة: http://dx.doi.org/10.3389/fphar.2021.667010
https://www.frontiersin.org/articles/10.3389/fphar.2021.667010/full

المؤلفون: Laemmle, Alexander, Häberle, Johannes, Willenbring, Holger

المساهمون: University of Zurich, Laemmle, Alexander

مصطلحات موضوعية: 10036 Medical Clinic, 610 Medicine & health, 2721 Hepatology

وصف الملف: ZORA_229874.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::744efbce1d38fe9fd8f1d36dce832194

المؤلفون: Laemmle, Alexander; https://orcid.org/0000-0001-9191-1886, Poms, Martin; https://orcid.org/0000-0002-4426-314X, Hsu, Bernadette; https://orcid.org/0000-0002-7826-0780, Borsuk, Mariia, Rüfenacht, Véronique, Robinson, Joshua; https://orcid.org/0000-0002-2421-4535, Sadowski, Martin C; https://orcid.org/0000-0002-5267-1442, Nuoffer, Jean-Marc; https://orcid.org/0000-0003-3650-6153, Häberle, Johannes; https://orcid.org/0000-0003-0635-091X, Willenbring, Holger; https://orcid.org/0000-0002-7397-2957

المصدر: 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):646-659.

مصطلحات الفهرس: Medical Clinic, 610 Medicine & health, Hepatology, Journal Article, PeerReviewed, info:eu-repo/semantics/article, info:eu-repo/semantics/acceptedVersion

URL: https://www.zora.uzh.ch/id/eprint/209426/
https://www.zora.uzh.ch/id/eprint/209426
10.1002/hep.32247

المؤلفون: Laemmle, Alexander, Gallagher, Renata C, Keogh, Adrian, Stricker, Tamar, Gautschi, Matthias, Nuoffer, Jean-Marc, Baumgartner, Matthias R, Häberle, Johannes

المصدر: Laemmle, Alexander; Gallagher, Renata C; Keogh, Adrian; Stricker, Tamar; Gautschi, Matthias; Nuoffer, Jean-Marc; Baumgartner, Matthias R; Häberle, Johannes (2016). Frequency and pathophysiology of acute liver failure in Ornithine Transcarbamylase Deficiency (OTCD). PLoS ONE, 11(4):e0153358.

مصطلحات موضوعية: Medical Clinic, Zurich Center for Integrative Human Physiology (ZIHP), 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/132022/1/132022.pdf; info:pmid/27070778; urn:issn:1932-6203

الاتاحة: https://www.zora.uzh.ch/id/eprint/132022/
https://www.zora.uzh.ch/id/eprint/132022/1/132022.pdf
https://doi.org/10.1371/journal.pone.0153358

المؤلفون: Kölker, Stefan, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut‐Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi‐Vici, Carlo, Barić, Ivo, Karall, Daniela, Augoustides‐Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean‐Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco‐Alonso, Javier, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, i Saladelafont, Elisenda Cortès, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Dvorakova, Veronika, Furlan, Francesca, Gleich, Florian, Gradowska, Wanda, Grünewald, Stephanie, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Lachmann, Robin, Laemmle, Alexander, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, de Baulny, Hélène Ogier, Ortez, Carlos, Peña‐Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl‐Bürgi, Sabine, Sokal, Etienne, Staufner, Christian, Summar, Marshall L., Thompson, Nicholas

المصدر: Journal of Inherited Metabolic Disease ; volume 38, issue 6, page 1041-1057 ; ISSN 0141-8955 1573-2665

الاتاحة: https://doi.org/10.1007/s10545-015-9839-3
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-015-9839-3

المؤلفون: Kölker, Stefan, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut‐Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi‐Vici, Carlo, Barić, Ivo, Karall, Daniela, Augoustides‐Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean‐Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco‐Alonso, Javier, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, i Saladelafont, Elisenda Cortès, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Dvorakova, Veronika, Furlan, Francesca, Gleich, Florian, Gradowska, Wanda, Grünewald, Stephanie, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Lachmann, Robin, Laemmle, Alexander, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, de Baulny, Hélène Ogier, Ortez, Carlos, Peña‐Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl‐Bürgi, Sabine, Sokal, Etienne, Staufner, Christian, Summar, Marshall L., Thompson, Nicholas

المصدر: Journal of Inherited Metabolic Disease ; volume 38, issue 6, page 1155-1156 ; ISSN 0141-8955 1573-2665

الاتاحة: http://dx.doi.org/10.1007/s10545-015-9867-z
https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-015-9867-z

المؤلفون: Lämmle, Alexander

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

مصطلحات موضوعية: 610 Medicine & health

وصف الملف: application/pdf

Relation: https://boris.unibe.ch/161538/

الاتاحة: https://boris.unibe.ch/161538/1/1_Editorial_D_AL.pdf
https://boris.unibe.ch/161538/
https://www.paediatrieschweiz.ch/editorial/editorial-18/

المؤلفون: Laemmle, Alexander, Balmer, Christian, Doell, Carsten, Sass, Jörn Oliver, Häberle, Johannes, Baumgartner, Matthias R

المصدر: Laemmle, Alexander; Balmer, Christian; Doell, Carsten; Sass, Jörn Oliver; Häberle, Johannes; Baumgartner, Matthias R (2014). Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. European Journal of Pediatrics, 173(7):971-974.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/96820/1/ZORA_NL_96820.pdf; info:pmid/24916042; urn:issn:0340-6199

الاتاحة: https://www.zora.uzh.ch/id/eprint/96820/
https://www.zora.uzh.ch/id/eprint/96820/1/ZORA_NL_96820.pdf