Sabine Fuchs

2024

An unbiased approach of molecular characterization of the endometrium: toward defining endometrial-based infertility

Bui, B. N., Ardisasmita, A. I., Kuijk, E., Altmäe, S., Steba, G., Mackens, S., Fuchs, S., Broekmans, F. & Nieuwenhuis, E., 1 Feb 2024, In: Human reproduction (Oxford, England). 39, 2, p. 275-281 7 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

File

Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable Isotopes

Meijer, N. W. F., Zwakenberg, S., Gerrits, J., Westland, D., Ardisasmita, A. I., Fuchs, S. A., Verhoeven-Duif, N. M., Jans, J. J. M. & Zwartkruis, F. J. T., 25 Apr 2024, In: Metabolites. 14, 5, 13 p., 246.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

Long-term monitoring of fatty acid oxidation defects: results from a MetabERN survey

Schwantje, M., Grünert, S. C. & Fuchs, S. A., 20 Jan 2024, In: Orphanet Journal of Rare Diseases. 19, 1, 21.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

Misidentification of neural cell identity in liver-derived organoid systems

Schene, I. F., Ardisasmita, A. I. & Fuchs, S. A., 12 Mar 2024, In: Stem Cell Reports. 19, 3, p. 315-316 2 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

2 Downloads (Pure)

Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders

Schwantje, M., Mosegaard, S., Knottnerus, S. J. G., van Klinken, J. B., Wanders, R. J., van Lenthe, H., Hermans, J., IJlst, L., Denis, S. W., Jaspers, Y. R. J., Fuchs, S. A., Houtkooper, R. H., Ferdinandusse, S. & Vaz, F. M., 29 Feb 2024, In: FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 38, 4, e23478.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

1 Downloads (Pure)

UPLC-Orbitrap-HRMS application for analysis of plasma sterols

van der Ham, M., Gerrits, J., Prinsen, B., van Hasselt, P., Fuchs, S., Jans, J., Willems, A. & de Sain-van der Velden, M., 1 Apr 2024, In: Analytica Chimica Acta. 1296, 10 p., 342347.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

2023

Abnormal glucose homeostasis and fasting intolerance in patients with congenital porto-systemic shunts

van Albada, M. E., Shah, P., Derks, T. G. J., Fuchs, S., Jans, J. J. M., McLin, V. & van der Doef, H. P. J., 18 Aug 2023, In: Frontiers in Endocrinology. 14, 7 p., 1190473.

Research output: Contribution to journal › Short survey › peer-review

Open Access

File

8 Downloads (Pure)

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening

Veldman, A., Kiewiet, M. B. G., Westra, D., Bosch, A. M., Brands, M. M. G., de Coo, R. I. F. M., Derks, T. G. J., Fuchs, S. A., van den Hout, J. M. P., Huidekoper, H. H., Kluijtmans, L. A. J., Koop, K., Lubout, C. M. A., Mulder, M. F., Panis, B., Rubio-Gozalbo, M. E., de Sain-van der Velden, M. G., Schaefers, J., Schreuder, A. B., Visser, G., & 4 othersWevers, R. A., Wijburg, F. A., Heiner-Fokkema, M. R. & van Spronsen, F. J., 11 Oct 2023, In: International Journal of Neonatal Screening. 9, 4, 56.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

6 Downloads (Pure)

Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration

Muffels, I. J. J., Schene, I. F., Rehmann, H., Massink, M. P. G., van der Wal, M. M., Bauder, C., Labeur, M., Armando, N. G., Lequin, M. H., Houben, M. L., Giltay, J. C., Haitjema, S., Huisman, A., Vansenne, F., Bluvstein, J., Pappas, J., Shailee, L. V., Zarate, Y. A., Mokry, M., van Haaften, G. W., & 5 othersNieuwenhuis, E. E. S., Refojo, D., van Wijk, F., Fuchs, S. A. & van Hasselt, P. M., 5 Jan 2023, In: American Journal of Human Genetics. 110, 1, p. 146-160 15 p.

Research output: Contribution to journal › Article › Academic › peer-review

Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study

Crefcoeur, L., Ferdinandusse, S., van der Crabben, S. N., Dekkers, E., Fuchs, S. A., Huidekoper, H., Janssen, M., Langendonk, J., Maase, R., de Sain, M., Rubio, E., van Spronsen, F. J., Vaz, F. M., Verschoof, R., de Vries, M., Wijburg, F., Visser, G. & Langeveld, M., 27 Nov 2023, In: Journal of Medical Genetics. 60, 12, p. 1177-1185 9 p., jmg-2023-109206.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

12 Downloads (Pure)

Next-generation Sequencing Performed in Patients Raising the Suspicion of an Inborn Error of Metabolism Uncovered a Homozygous Variant in Yars1 Allowing a Novel Therapeutic Trial

Translated title of the contribution: Next-generation Sequencing Performed in Patients Raising the Suspicion of an Inborn Error of Metabolism Uncovered a Homozygous Variant in Yars1 Allowing a Novel Therapeutic TrialNasser Samra, N., Morani, I., Bayan, H., Bakry, D., Shaalan, M., Saadi, H., Beni Shrem, S., Sawaed, A., Kok, G., Muffels, I. J., Fuchs, S. A., Shapira-Rootman, M., Mor-Shaked, H. & Mandel, H., Jun 2023, In: Harefuah. 162, 6, p. 344-351 8 p.

Research output: Contribution to journal › Article › Academic › peer-review

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

Kok, G., Ilcken, E. F., Houwen, R. H. J., Lindemans, C. A., Nieuwenhuis, E. E. S., Spierings, E. & Fuchs, S. A., Sept 2023, In: Annals of surgery open : perspectives of surgical history, education, and clinical approaches. 4, 3, p. 1-7 e334.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

7 Downloads (Pure)

2022

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

Ardisasmita, A. I., Schene, I. F., Joore, I. P., Kok, G., Hendriks, D., Artegiani, B., Mokry, M., Nieuwenhuis, E. E. S. & Fuchs, S. A., 14 Oct 2022, In: Communications biology. 5, 1, 1094.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

2 Downloads (Pure)

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

Kok, G., Verstegen, M. M., Houwen, R. H., Nieuwenhuis, E. E., Metselaar, H. J., Polak, W. G., van der Laan, L. J., Spierings, E., den Hoed, C. M. & Fuchs, S. A., Aug 2022, In: Liver Transplantation. 28, 8, p. 1356-1366 11 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

3 Downloads (Pure)

Delivery of modified mRNA to damaged myocardium by systemic administration of lipid nanoparticles

Evers, M. J. W., Du, W., Yang, Q., Kooijmans, S. A. A., Vink, A., van Steenbergen, M., Vader, P., de Jager, S. C. A., Fuchs, S. A., Mastrobattista, E., Sluijter, J. P. G., Lei, Z. & Schiffelers, R., Mar 2022, In: Journal of controlled release : official journal of the Controlled Release Society. 343, p. 207-216 10 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

12 Downloads (Pure)

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

Schwantje, M., Fuchs, S. A., de Boer, L., Bosch, A. M., Cuppen, I., Dekkers, E., Derks, T. G. J., Ferdinandusse, S., Ijlst, L., Houtkooper, R. H., Maase, R., van der Pol, W. L., de Vries, M. C., Verschoof-Puite, R. K., Wanders, R. J. A., Williams, M., Wijburg, F. & Visser, G., Jul 2022, In: Journal of Inherited Metabolic Disease. 45, 4, p. 804-818 15 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

2 Citations (Scopus)

6 Downloads (Pure)

Mogelijke toepassingen van organoïden in de geneeskunde

Translated title of the contribution: Possible applications of organoids in medicineMijnders, M., Fuchs, S. A. & Nieuwenhuis, E. E. S., 12 Jan 2022, In: Nederlands Tijdschrift voor Geneeskunde. 166, d6011.

Research output: Contribution to journal › Article › Academic › peer-review

Mutation-specific reporter for optimization and enrichment of prime editing

Schene, I. F., Joore, I. P., Baijens, J. H. L., Stevelink, R., Kok, G., Shehata, S., Ilcken, E. F., Nieuwenhuis, E. E. S., Bolhuis, D. P., van Rees, R. C. M., Spelier, S. A., van der Doef, H. P. J., Beekman, J. M., Houwen, R. H. J., Nieuwenhuis, E. E. S. & Fuchs, S. A., 1 Mar 2022, In: Nature Communications. 13, 1, 1028.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

21 Downloads (Pure)

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

Veenvliet, A. R. J., Garrelfs, M. R., Udink Ten Cate, F. E. A., Ferdinandusse, S., Denis, S., Fuchs, S. A., Schwantje, M., Geurtzen, R., van Wegberg, A. M. J., Huigen, M. C. D. G., Kluijtmans, L. A. J., Wanders, R. J. A., Derks, T. G. J., de Boer, L., Houtkooper, R. H., de Vries, M. C. & van Karnebeek, C. D. M., Jun 2022, In: Molecular Genetics and Metabolism Reports. 31, 100873.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

7 Downloads (Pure)

Response to Shen et al

Kok, G., van Karnebeek, C. D. M. & Fuchs, S. A., Feb 2022, In: Genetics in medicine : official journal of the American College of Medical Genetics. 24, 2, p. 506-507 2 p.

Research output: Contribution to journal › Letter › Academic › peer-review

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

Lehmann, V., Schene, I. F., Ardisasmita, A. I., Liv, N., Veenendaal, T., Klumperman, J., van der Doef, H. P. J., Verkade, H. J., Verstegen, M. M. A., van der Laan, L. J. W., Jans, J. J. M., Verhoeven-Duif, N. M., van Hasselt, P. M., Nieuwenhuis, E. E. S., Spee, B. & Fuchs, S. A., Mar 2022, In: Journal of Inherited Metabolic Disease. 45, 2, p. 353-365 13 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

4 Downloads (Pure)

Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy

Schwantje, M., Ebberink, M. S., Doolaard, M., Ruiter, J. P. N., Fuchs, S. A., Darin, N., Hedberg-Oldfors, C., Régal, L., Donker Kaat, L., Huidekoper, H. H., Olpin, S., Cole, D., Moat, S. J., Visser, G. & Ferdinandusse, S., Jul 2022, In: Journal of Inherited Metabolic Disease. 45, 4, p. 819-831 13 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

2021

A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever

Ravel, J-M., Dreumont, N., Mosca, P., Smith, D. E. C., Mendes, M. I., Wiedemann, A., Coelho, D., Schmitt, E., Rivière, J-B., Tran Mau-Them, F., Thevenon, J., Kuentz, P., Polivka, M., Fuchs, S. A., Kok, G., Thauvin-Robinet, C., Guéant, J-L., Salomons, G. S., Faivre, L. & Feillet, F., Dec 2021, In: Human mutation. 42, 12, p. 1576-1583 8 p.

Research output: Contribution to journal › Article › Academic › peer-review

A generic emergency protocol for patients with inborn errors of metabolism causing fasting intolerance: A retrospective, single-center study and the generation of www.emergencyprotocol.net

Sept 2021, In: Journal of Inherited Metabolic Disease. 44, 5, p. 1124-1135 12 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

2 Citations (Scopus)

5 Downloads (Pure)

Building consensus on definition and nomenclature of hepatic, pancreatic, and biliary organoids

ETH Zurich, 6 May 2021, In: Cell stem cell. 28, 5, p. 816-832 17 p.

Research output: Contribution to journal › Review article › peer-review

21 Citations (Scopus)

High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome

Molema, F., Haijes, H. A., Janssen, M. C., Bosch, A. M., van Spronsen, F. J., Mulder, M. F., Verhoeven-Duif, N. M., Jans, J. J. M., van der Ploeg, A. T., Wagenmakers, M. A., Rubio-Gozalbo, M. E., Brouwers, M. C. G. J., de Vries, M. C., Fuchs, S., Langendonk, J. G., Rizopoulos, D., van Hasselt, P. M. & Williams, M., May 2021, In: Clinical Nutrition. 40, 5, p. 3622-3630 9 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

13 Downloads (Pure)

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Jul 2021, In: Human Genetics. 140, 7, p. 1109-1120 12 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

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

Muffels, I. J. J., Wiame, E., Fuchs, S. A., Massink, M. P. G., Rehmann, H., Musch, J. L. I., Van Haaften, G., Vertommen, D., van Schaftingen, E. & van Hasselt, P. M., 2021, In: Brain communications. 3, 4, p. 1-14 fcab256.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

2 Citations (Scopus)

10 Downloads (Pure)

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

den Hollander, B., Rasing, A., Post, M. A., Klein, W. M., Oud, M. M., Brands, M. M., de Boer, L., Engelke, U. F. H., van Essen, P., Fuchs, S. A., Haaxma, C. A., Jensson, B. O., Kluijtmans, L. A. J., Lengyel, A., Lichtenbelt, K. D., Østergaard, E., Peters, G., Salvarinova, R., Simon, M. E. H., Stefansson, K., & 6 othersThorarensen, Ó., Ulmen, U., Coene, K. L. M., Willemsen, M. A., Lefeber, D. J. & van Karnebeek, C. D. M., Jun 2021, In: Frontiers in Neurology. 12, 21 p., 668640.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

12 Downloads (Pure)

Response to Shen and Zou

Kok, G., van Karnebeek, C. D. M. & Fuchs, S. A., Mar 2021, In: Genetics in medicine : official journal of the American College of Medical Genetics. 23, 3, p. 589-590 2 p.

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

Treatment of ARS deficiencies with specific amino acids

Kok, G., Tseng, L., Schene, I. F., Dijsselhof, M. E., Salomons, G., Mendes, M. I., Smith, D. E. C., Wiedemann, A., Canton, M., Feillet, F., de Koning, T. J., Boothe, M., Dean, J., Kassel, R., Ferreira, E. A., van den Born, M., Nieuwenhuis, E. E. S., Rehmann, H., Terheggen-Lagro, S. W. J., van Karnebeek, C. D. M., & 1 othersFuchs, S. A., Nov 2021, In: Genetics in Medicine. 23, 11, p. 2202-2207 6 p.

Research output: Contribution to journal › Article › Academic › peer-review

3 Citations (Scopus)

2020

Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes

Fuchs, S. A., Schene, I. F., Kok, G., Jansen, J. M., Nikkels, P. G. J., van Gassen, K. L. I., Terheggen-Lagro, S. W. J., van der Crabben, S. N., Hoeks, S. E., Niers, L. E. M., Wolf, N. I., de Vries, M. C., Koolen, D. A., Houwen, R. H. J., Mulder, M. F. & van Hasselt, P. M., 15 Sept 2020, In: Genetics in Medicine. 23, 10, p. 1-1

Research output: Contribution to journal › Comment/Letter to the editor › Academic › peer-review

Ethical challenges for pediatric liver organoid transplantation

Schneemann, S. A., Boers, S. N., van Delden, J. J. M., Nieuwenhuis, E. E. S., Fuchs, S. A. & Bredenoord, A. L., 15 Jul 2020, In: Science translational medicine. 12, 552, p. 1-3 eaau8471.

Research output: Contribution to journal › Editorial › Academic › peer-review

Glucose transporter type 1 deficiency syndrome and the ketogenic diet

Schwantje, M., Verhagen, L. M., van Hasselt, P. M. & Fuchs, S. A., Mar 2020, In: Journal of Inherited Metabolic Disease. 43, 2, p. 216-222 7 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

File

3 Downloads (Pure)

Human extrahepatic and intrahepatic cholangiocyte organoids show region-specific differentiation potential and model cystic fibrosis-related bile duct disease

Verstegen, M. M. A., Roos, F. J. M., Burka, K., Gehart, H., Jager, M., de Wolf, M., Bijvelds, M. J. C., de Jonge, H. R., Ardisasmita, A. I., van Huizen, N. A., Roest, H. P., de Jonge, J., Koch, M., Pampaloni, F., Fuchs, S. A., Schene, I. F., Luider, T. M., van der Doef, H. P. J., Bodewes, F. A. J. A., de Kleine, R. H. J., & 6 othersSpee, B., Kremers, G-J., Clevers, H., IJzermans, J. N. M., Cuppen, E. & van der Laan, L. J. W., 14 Dec 2020, In: Scientific Reports. 10, 1, p. 1-16 16 p., 21900.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

16 Downloads (Pure)

Large-scale Production of LGR5-positive Bipotential Human Liver Stem Cells

Schneeberger, K., Sánchez-Romero, N., Ye, S., van Steenbeek, F. G., Oosterhoff, L. A., Pla Palacin, I., Chen, C., van Wolferen, M. E., van Tienderen, G., Lieshout, R., Colemonts-Vroninks, H., Schene, I., Hoekstra, R., Verstegen, M. M. A., van der Laan, L. J. W., Penning, L. C., Fuchs, S. A., Clevers, H., De Kock, J., Baptista, P. M., & 1 othersSpee, B., Jul 2020, In: Hepatology (Baltimore, Md.). 72, 1, p. 257-270 14 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

Long-Term Survival of Transplanted Autologous Canine Liver Organoids in a COMMD1-Deficient Dog Model of Metabolic Liver Disease

Kruitwagen, H. S., Oosterhoff, L. A., van Wolferen, M. E., Chen, C., Nantasanti Assawarachan, S., Schneeberger, K., Kummeling, A., van Straten, G., Akkerdaas, I. C., Vinke, C. R., van Steenbeek, F. G., van Bruggen, L. W. L., Wolfswinkel, J., Grinwis, G. C. M., Fuchs, S. A., Gehart, H., Geijsen, N., Vries, R. G., Clevers, H., Rothuizen, J., & 3 othersSchotanus, B. A., Penning, L. C. & Spee, B., 11 Feb 2020, In: Cells. 9, 2, 410.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

9 Downloads (Pure)

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

Claesen, J. LA., Koomen, E., Schene, I. F., Jans, J. J., Mast, N., Pikuleva, I. A., van der Ham, M., de Sain-van der Velden, M. G. & Fuchs, S. A., Jul 2020, In: Journal of Inherited Metabolic Disease. 43, 4, p. 843-851 9 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

Mitochondrial Cardiomyopathies

Blank, AC., Breur, JMPJ., Fuchs, S. A., Koop, K. & Baas, AF., 1 Jan 2020, Clinical Cardiogenetics: Third Edition. Baars, H. F., Doevendans, P. A. F. M., Houweling, A. C. & van Tintelen, J. P. (eds.). Springer International Publishing AG, p. 179-190 12 p.

Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

Mitochondrial Cardiomyopathy

Blank, AC., Breur, JMPJ., Fuchs, S. A., Koop, K. & Baas, AF., 2020, Clinical Cardiogenetics: Mitochondrial cardiomyopathy. Baars, H., Doevendans, P. A. F. M., Houweling, A. & van Tintelen, P. (eds.). 3 ed. Springer, p. 179-190

Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic

Prime editing for functional repair in patient-derived disease models

Schene, I. F., Joore, I. P., Oka, R., Mokry, M., van Vugt, A. H. M., van Boxtel, R., van der Doef, H. P. J., van der Laan, L. J. W., Verstegen, M. M. A., van Hasselt, P. M., Nieuwenhuis, E. E. S. & Fuchs, S. A., 1 Dec 2020, In: Nature Communications. 11, 1, 5352.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

9 Downloads (Pure)

Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity

Kuper, W. F. E., Oostendorp, M., van den Broek, B. T. A., van Veghel, K., Nonkes, L. J. P., Nieuwenhuis, E. E. S., Fuchs, S. A., Veenendaal, T., Klumperman, J., Huisman, A., Nierkens, S. & van Hasselt, P. M., Jul 2020, In: JIMD Reports. 54, 1, p. 87-97 11 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

1 Citation (Scopus)

2019

Aminoacyl-tRNA synthetase deficiencies in search of common themes

Fuchs, S. A., Schene, I. F., Kok, G., Jansen, J. M., Nikkels, P. G. J., van Gassen, K. L. I., Terheggen-Lagro, S. W. J., van der Crabben, S. N., Hoeks, S. E., Niers, L. E. M., Wolf, N. I., de Vries, M. C., Koolen, D. A., Houwen, R. H. J., Mulder, M. F. & van Hasselt, P. M., 1 Feb 2019, In: Genetics in Medicine. 21, 2, p. 319-330 12 p.

Research output: Contribution to journal › Article › Academic › peer-review

A narrative review of factors associated with the development and progression of non-alcoholic fatty liver disease

de Nooijer, A., Vreugdenhil, A., Karnebeek, K., van Hasselt, PM. & Fuchs, S. A., Jul 2019, In: GastroHep. 1, 4, p. 180-191 12 p.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

2 Downloads (Pure)

Glycogen storage disease type IV: A rare cause for neuromuscular disorders or often missed?

Schene, I. F., Korenke, C. G., Huidekoper, H. H., van der Pol, L., Dooijes, D., Breur, J. M. P. J., Biskup, S., Fuchs, S. A. & Visser, G., 1 Jan 2019, JIMD Reports volume 45. Springer, p. 99-104 6 p. (JIMD Reports; vol. 45).

Research output: Chapter in Book/Report/Conference proceeding › Chapter › Academic › peer-review

Identification of human D lactate dehydrogenase deficiency

Monroe, G. R., van Eerde, A. M., Tessadori, F., Duran, K. J., Savelberg, S. M. C., van Alfen, J. C., Terhal, P. A., van der Crabben, S. N., Lichtenbelt, K. D., Fuchs, S. A., Gerrits, J., van Roosmalen, M. J., van Gassen, K. L., van Aalderen, M., Koot, B. G., Oostendorp, M., Duran, M., Visser, G., de Koning, T. J., Calì, F., & 8 othersBosco, P., Geleijns, K., de Sain-van der Velden, M. G. M., Knoers, N. V., Bakkers, J., Verhoeven-Duif, N. M., van Haaften, G. & Jans, J. J., 1 Apr 2019, In: Nature Communications. 10, 1, 1477.

Research output: Contribution to journal › Article › Academic › peer-review

Open Access

File

MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy

Broeks, M. H., Shamseldin, H. E., Alhashem, A., Hashem, M., Abdulwahab, F., Alshedi, T., Alobaid, I., Zwartkruis, F., Westland, D., Fuchs, S., Verhoeven-Duif, N. M., Jans, J. J. M. & Alkuraya, F. S., Dec 2019, In: Human Genetics. 138, 11-12, p. 1247-1257 11 p.

Research output: Contribution to journal › Article › Academic › peer-review

2018

Aminoacyl-tRNA synthetase deficiencies: in search of common themes

Kok, G., Schene, IF., Nikkels, PGJ., van Gassen, KLI., Terheggen-Lagro, S. W. J., van der Crabben, SN., Hoeks, S. B. E. A., Niers, L. E. M., Wolf, N. I., de Vries, M. C., Koolen, D. A., Houwen, RHJ., Mulder, M. F., van Hasselt, PM. & Fuchs, SA., 4 Sept 2018. 2 p.

Research output: Contribution to conference › Abstract › Academic

Open Access

File

Aminoacyl-tRNA synthetase deficiencies: in search of common themes

Kok, G., Schene, IF., Nikkels, PGJ., van Gassen, KLI., Terheggen-Lagro, S. W. J., van der Crabben, SN., Niers, L. E. M., Wolf, V. I., de Vries, M. C., Koolen, D. A., Houwen, RHJ., Mulder, M. F., van Hasselt, PM. & Fuchs, SA., 4 Sept 2018, p. 1. 1 p.

Research output: Contribution to conference › Poster › Academic

CTX or propofol? Interference of urinary bile acid profiling by propofol

Fuchs, SA., Koomen, E., Schene, IF., Mast, N., Pikuleva, I. A., Jans, JJM. & van der Velden, MGM., 4 Sept 2018. 1 p.

Research output: Contribution to conference › Poster › Academic

Sabine Fuchs

Research output

Search results