Inborn errors of the malate aspartate shuttle - Update on patients and cellular models.

Autor: Koch J; Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Broeks MH; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands., Gautschi M; Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; University Institute of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Jans J; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, the Netherlands., Laemmle A; Division of Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland; University Institute of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland. Electronic address: alexander.laemmle@insel.ch.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 Aug; Vol. 142 (4), pp. 108520. Date of Electronic Publication: 2024 Jun 24.

Parasitic, bacterial, viral, immune-mediated, metabolic and nutritional factors associated with nodding syndrome.

Autor: Edridge AWD; Amsterdam Centre for Global Child Health, Emma Children's Hospital, Amsterdam UMC, Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.; Department of Medical Microbiology and Infection Prevention, Amsterdam UMC, Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands., Abd-Elfarag G; Amsterdam Centre for Global Child Health, Emma Children's Hospital, Amsterdam UMC, Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.; Department of Neurology & Psychiatry, College of Medicine, University of Juba, P.O. Box 82, Juba, South Sudan., Deijs M; Department of Medical Microbiology and Infection Prevention, Amsterdam UMC, Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands., Broeks MH; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands., Cristella C; Department of Medical Microbiology and Infection Prevention, Amsterdam UMC, Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands., Sie B; Division of Genetics, Brigham and Women's Hospital, Howard Hughes Medical Institute, Boston, MA 02115, USA.; Department of Genetics, Harvard Medical School, Boston, MA 02115, USA., Vaz FM; Department of Clinical Chemistry, Amsterdam UMC, Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands., Jans JJM; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands., Calis J; Amsterdam Centre for Global Child Health, Emma Children's Hospital, Amsterdam UMC, Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.; Department of Paediatrics and Child Health, Kamuzu University of Health Sciences, P.O. Box 95, Blantyre, Malawi., Verhoef H; Division of Human Nutrition and Health, Wageningen University, 6701 AR Wageningen, The Netherlands., Demir A; Laboratory for Clinical Chemistry and Hematology, Meander Medical Centre, 3813 TZ Amersfoort, The Netherlands., Poppert S; Diagnostic Centre, Swiss Tropical and Public Health Institute, University of Basel, 4123 Allschwil, Switzerland.; University of Basel, 4056 Basel, Switzerland., Nickel B; Diagnostic Centre, Swiss Tropical and Public Health Institute, University of Basel, 4123 Allschwil, Switzerland.; University of Basel, 4056 Basel, Switzerland., van Dam A; Department of Medical Microbiology and Infection Prevention, Amsterdam UMC, Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands., Sebit B; Department of Neurology & Psychiatry, College of Medicine, University of Juba, P.O. Box 82, Juba, South Sudan., Titulaer MJ; Department of Neurology, Erasmus MC University Medical Center, 3000 CA Rotterdam, The Netherlands., Verweij JJ; Microvida Laboratory for Medical Microbiology and Immunology, Elisabeth-Tweesteden Hospital, 5022 GC Tilburg, The Netherlands., de Jong MD; Department of Medical Microbiology and Infection Prevention, Amsterdam UMC, Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands., van Gool T; Department of Medical Microbiology and Infection Prevention, Amsterdam UMC, Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands., Faragher B; Department of Clinical Sciences, Liverpool School of Tropical Medicine, Liverpool L3 5QA, UK., Verhoeven-Duif NM; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands., Elledge SJ; Division of Genetics, Brigham and Women's Hospital, Howard Hughes Medical Institute, Boston, MA 02115, USA., van der Hoek L; Department of Medical Microbiology and Infection Prevention, Amsterdam UMC, Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands., Boele van Hensbroek M; Amsterdam Centre for Global Child Health, Emma Children's Hospital, Amsterdam UMC, Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.

Publikováno v: Brain communications [Brain Commun] 2023 Aug 17; Vol. 5 (5), pp. fcad223. Date of Electronic Publication: 2023 Aug 17 (Print Publication: 2023).

Inborn disorders of the malate aspartate shuttle.

Autor: Broeks MH; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht, The Netherlands., van Karnebeek CDM; Departments of Pediatrics, Amsterdam University Medical Center, Amsterdam, The Netherlands.; Department of Pediatrics, Amalia Children's Hospital, Radboud Center for Mitochondrial Diseases, Radboud University Medical Center, Nijmegen, The Netherlands.; On behalf of 'United for Metabolic Diseases', The Netherlands., Wanders RJA; Departments of Pediatrics and Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Jans JJM; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht, The Netherlands.; On behalf of 'United for Metabolic Diseases', The Netherlands., Verhoeven-Duif NM; Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Utrecht, The Netherlands.; On behalf of 'United for Metabolic Diseases', The Netherlands.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Jul; Vol. 44 (4), pp. 792-808. Date of Electronic Publication: 2021 May 24.

Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia.

Autor: van Dooijeweert B; Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.; Department of Paediatric Haematology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Broeks MH; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., van Beers EJ; Van Creveldkliniek, University Medical Center Utrecht, Utrecht, the Netherlands., Verhoeven-Duif NM; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., van Solinge WW; Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Nieuwenhuis EES; Department of Paediatric Haematology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Jans JJ; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., van Wijk R; Central Diagnostic Laboratory-Research, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Bartels M; Department of Paediatric Haematology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands.; Van Creveldkliniek, University Medical Center Utrecht, Utrecht, the Netherlands.

Publikováno v: British journal of haematology [Br J Haematol] 2021 Jun; Vol. 193 (6), pp. 1185-1193. Date of Electronic Publication: 2021 May 17.

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

Autor: Broeks MH; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, 3584 EA, Utrecht, The Netherlands., Shamseldin HE; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, 12713, Saudi Arabia., Alhashem A; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, 11159, Saudi Arabia., Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, 12713, Saudi Arabia., Abdulwahab F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, 12713, Saudi Arabia., Alshedi T; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, 12713, Saudi Arabia., Alobaid I; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, 12713, Saudi Arabia., Zwartkruis F; Department of Molecular Cancer Research, Center for Molecular Medicine, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands., Westland D; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, 3584 EA, Utrecht, The Netherlands., Fuchs S; Section Metabolic Diseases, Department of Child Health, Wilhelmina Children's Hospital, University Medical Center Utrecht, 3584 EA, Utrecht, The Netherlands., Verhoeven-Duif NM; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, 3584 EA, Utrecht, The Netherlands., Jans JJM; Section Metabolic Diagnostics, Department of Genetics, University Medical Center Utrecht, 3584 EA, Utrecht, The Netherlands. J.J.M.Jans@umcutrecht.nl., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, 12713, Saudi Arabia. falkuraya@kfshrc.edu.sa.

Publikováno v: Human genetics [Hum Genet] 2019 Dec; Vol. 138 (11-12), pp. 1247-1257. Date of Electronic Publication: 2019 Sep 19.