Liver transplantation in glycogen storage disease type I

por Boers, Susanna JB, Visser, Gepke, Smit, Peter GPA, Fuchs, Sabine A
Publicado 2014

Glucose transporter type 1 deficiency syndrome and the ketogenic diet

por Schwantje, Marit, Verhagen, Lilly M., van Hasselt, Peter M., Fuchs, Sabine A.
Publicado 2019

The Effect of Genetic HLA Matching on Liver Transplantation Outcome: A Systematic Review and Meta-Analysis

por Kok, Gautam, Ilcken, Eveline F., Houwen, Roderick H.J., Lindemans, Caroline A., Nieuwenhuis, Edward E.S., Spierings, Eric, Fuchs, Sabine A.
Publicado 2023

Timing of cognitive decline in CLN3 disease

por Kuper, Willemijn F. E., van Alfen, Claudia, Rigterink, Roeliene H., Fuchs, Sabine A., van Genderen, Maria M., van Hasselt, Peter M.
Publicado 2018

A comprehensive transcriptomic comparison of hepatocyte model systems improves selection of models for experimental use

por Ardisasmita, Arif Ibrahim, Schene, Imre F., Joore, Indi P., Kok, Gautam, Hendriks, Delilah, Artegiani, Benedetta, Mokry, Michal, Nieuwenhuis, Edward E. S., Fuchs, Sabine A.
Publicado 2022

Increased concentrations of both NMDA receptor co-agonists d-serine and glycine in global ischemia: a potential novel treatment target for perinatal asphyxia

por Fuchs, Sabine A., Peeters-Scholte, Cacha M. P. C. D., de Barse, Martina M. J., Roeleveld, Martin W., Klomp, Leo W. J., Berger, Ruud, de Koning, Tom J.
Publicado 2011

NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay

por Muffels, Irena J J, Wiame, Elsa, Fuchs, Sabine A, Massink, Maarten P G, Rehmann, Holger, Musch, Jiska L I, Van Haaften, Gijs, Vertommen, Didier, van Schaftingen, Emile, van Hasselt, Peter M
Publicado 2021

Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling

por Claesen, Joep L. A., Koomen, Erik, Schene, Imre F., Jans, Judith J. M., Mast, Natalia, Pikuleva, Irina A., van der Ham, Maria, de Sain‐van der Velden, Monique G. M., Fuchs, Sabine A.
Publicado 2020

Assessment of human leukocyte antigen matching algorithm PIRCHE‐II on liver transplantation outcomes

por Kok, Gautam, Verstegen, Monique M. A., Houwen, Roderick H. J., Nieuwenhuis, Edward E. S., Metselaar, Herold J., Polak, Wojciech G., van der Laan, Luc J. W., Spierings, Eric, den Hoed, Caroline M., Fuchs, Sabine A.
Publicado 2022

Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity

por Kuper, Willemijn F. E., Oostendorp, Marlies, van den Broek, Brigitte T. A., van Veghel, Karin, Nonkes, Lourens J. P., Nieuwenhuis, Edward E. S., Fuchs, Sabine A., Veenendaal, Tineke, Klumperman, Judith, Huisman, Albert, Nierkens, Stefan, van Hasselt, Peter M.
Publicado 2020

Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy

por Schwantje, Marit, Ebberink, Merel S., Doolaard, Mirjam, Ruiter, Jos P. N., Fuchs, Sabine A., Darin, Niklas, Hedberg‐Oldfors, Carola, Régal, Luc, Donker Kaat, Laura, Huidekoper, Hidde H., Olpin, Simon, Cole, Duncan, Moat, Stuart J., Visser, Gepke, Ferdinandusse, Sacha
Publicado 2022

Prime editing for functional repair in patient-derived disease models

por Schene, Imre F., Joore, Indi P., Oka, Rurika, Mokry, Michal, van Vugt, Anke H. M., van Boxtel, Ruben, van der Doef, Hubert P. J., van der Laan, Luc J. W., Verstegen, Monique M. A., van Hasselt, Peter M., Nieuwenhuis, Edward E. S., Fuchs, Sabine A.
Publicado 2020

Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherland...

por Schwantje, Marit, Fuchs, Sabine A., de Boer, Lonneke, Bosch, Annet M., Cuppen, Inge, Dekkers, Eugenie, Derks, Terry G. J., Ferdinandusse, Sacha, Ijlst, Lodewijk, Houtkooper, Riekelt H., Maase, Rose, van der Pol, W. Ludo, de Vries, Maaike C., Verschoof‐Puite, Rendelien K., Wanders, Ronald J. A., Williams, Monique, Wijburg, Frits, Visser, Gepke
Publicado 2022

The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism

por Lehmann, Vivian, Schene, Imre F., Ardisasmita, Arif I., Liv, Nalan, Veenendaal, Tineke, Klumperman, Judith, van der Doef, Hubert P. J., Verkade, Henkjan J., Verstegen, Monique M. A., van der Laan, Luc J. W., Jans, Judith J. M., Verhoeven‐Duif, Nanda M., van Hasselt, Peter M., Nieuwenhuis, Edward E. S., Spee, Bart, Fuchs, Sabine A.
Publicado 2021

Aminoacyl-tRNA synthetase deficiencies in search of common themes

por Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G. J., van Gassen, Koen L. I., Terheggen-Lagro, Suzanne W. J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E. M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H. J., Mulder, Margot F., van Hasselt, Peter M.
Publicado 2018

Large‐Scale Production of LGR5‐Positive Bipotential Human Liver Stem Cells

por Schneeberger, Kerstin, Sánchez‐Romero, Natalia, Ye, Shicheng, van Steenbeek, Frank G., Oosterhoff, Loes A., Pla Palacin, Iris, Chen, Chen, van Wolferen, Monique E., van Tienderen, Gilles, Lieshout, Ruby, Colemonts‐Vroninks, Haaike, Schene, Imre, Hoekstra, Ruurdtje, Verstegen, Monique M.A., van der Laan, Luc J.W., Penning, Louis C., Fuchs, Sabine A., Clevers, Hans, De Kock, Joery, Baptista, Pedro M., Spee, Bart
Publicado 2020

Treatment of ARS deficiencies with specific amino acids

por Kok, Gautam, Tseng, Laura, Schene, Imre F., Dijsselhof, Monique E., Salomons, Gajja, Mendes, Marisa I., Smith, Desiree E. C., Wiedemann, Arnaud, Canton, Marie, Feillet, François, de Koning, Tom J., Boothe, Megan, Dean, Joy, Kassel, Rachel, Ferreira, Elise A., van den Born, Margreet, Nieuwenhuis, Edward E. S., Rehmann, Holger, Terheggen-Lagro, Suzanne W. J., van Karnebeek, Clara D. M., Fuchs, Sabine A.
Publicado 2021

Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echoc...

por Veenvliet, Annemarijne R.J., Garrelfs, Mark R., Udink ten Cate, Floris E.A., Ferdinandusse, Sacha, Denis, Simone, Fuchs, Sabine A., Schwantje, Marit, Geurtzen, Rosa, van Wegberg, Annemiek M.J., Huigen, Marleen C.D.G., Kluijtmans, Leo A.J., Wanders, Ronald J.A., Derks, Terry G.J., de Boer, Lonneke, Houtkooper, Riekelt H., de Vries, Maaike C., van Karnebeek, Clara D.M.
Publicado 2022

Long-Term Culture of Genome-Stable Bipotent Stem Cells from Adult Human Liver

por Huch, Meritxell, Gehart, Helmuth, van Boxtel, Ruben, Hamer, Karien, Blokzijl, Francis, Verstegen, Monique M.A., Ellis, Ewa, van Wenum, Martien, Fuchs, Sabine A., de Ligt, Joep, van de Wetering, Marc, Sasaki, Nobuo, Boers, Susanne J., Kemperman, Hans, de Jonge, Jeroen, Ijzermans, Jan N.M., Nieuwenhuis, Edward E.S., Hoekstra, Ruurdtje, Strom, Stephen, Vries, Robert R.G., van der Laan, Luc J.W., Cuppen, Edwin, Clevers, Hans
Publicado 2015

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause

por Theunissen, Tom E. J., Nguyen, Minh, Kamps, Rick, Hendrickx, Alexandra T., Sallevelt, Suzanne C. E. H., Gottschalk, Ralph W. H., Calis, Chantal M., Stassen, Alphons P. M., de Koning, Bart, Mulder-Den Hartog, Elvira N. M., Schoonderwoerd, Kees, Fuchs, Sabine A., Hilhorst-Hofstee, Yvonne, de Visser, Marianne, Vanoevelen, Jo, Szklarczyk, Radek, Gerards, Mike, de Coo, Irenaeus F. M., Hellebrekers, Debby M. E. I., Smeets, Hubert J. M.
Publicado 2018