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The malate-aspartate shuttle is important for de novo serine biosynthesis.
Cell Rep. 2023 Sep 26;42(9):113043. doi: 10.1016/j.celrep.2023.113043. Epub 2023 Aug 30.
Cell Rep. 2023.
PMID: 37647199
Free article.
MDH1 deficiency is a metabolic disorder of the malate-aspartate shuttle associated with early onset severe encephalopathy.
Broeks MH, Shamseldin HE, Alhashem A, Hashem M, Abdulwahab F, Alshedi T, Alobaid I, Zwartkruis F, Westland D, Fuchs S, Verhoeven-Duif NM, Jans JJM, Alkuraya FS.
Broeks MH, et al.
Hum Genet. 2019 Dec;138(11-12):1247-1257. doi: 10.1007/s00439-019-02063-z. Epub 2019 Sep 19.
Hum Genet. 2019.
PMID: 31538237
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Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm.
Haijes HA, van der Ham M, Prinsen HCMT, Broeks MH, van Hasselt PM, de Sain-van der Velden MGM, Verhoeven-Duif NM, Jans JJM.
Haijes HA, et al. Among authors: broeks mh.
Int J Mol Sci. 2020 Feb 1;21(3):979. doi: 10.3390/ijms21030979.
Int J Mol Sci. 2020.
PMID: 32024143
Free PMC article.
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Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency.
Van Dooijeweert B, Broeks MH, Verhoeven-Duif NM, Van Beers EJ, Nieuwenhuis EES, Van Solinge WW, Bartels M, Jans JJ, Van Wijk R.
Van Dooijeweert B, et al. Among authors: broeks mh.
Haematologica. 2021 Oct 1;106(10):2720-2725. doi: 10.3324/haematol.2020.266957.
Haematologica. 2021.
PMID: 33054133
Free PMC article.
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Inborn disorders of the malate aspartate shuttle.
Broeks MH, van Karnebeek CDM, Wanders RJA, Jans JJM, Verhoeven-Duif NM.
Broeks MH, et al.
J Inherit Metab Dis. 2021 Jul;44(4):792-808. doi: 10.1002/jimd.12402. Epub 2021 May 24.
J Inherit Metab Dis. 2021.
PMID: 33990986
Free PMC article.
Review.
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Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia.
van Dooijeweert B, Broeks MH, van Beers EJ, Verhoeven-Duif NM, van Solinge WW, Nieuwenhuis EES, Jans JJ, van Wijk R, Bartels M.
van Dooijeweert B, et al. Among authors: broeks mh.
Br J Haematol. 2021 Jun;193(6):1185-1193. doi: 10.1111/bjh.17524. Epub 2021 May 17.
Br J Haematol. 2021.
PMID: 33997957
Free PMC article.
Clinical Trial.
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Metabolic Fingerprint in Hereditary Spherocytosis Correlates With Red Blood Cell Characteristics and Clinical Severity.
van Dooijeweert B, Broeks MH, Verhoeven-Duif NM, van Solinge WW, van Beers EJ, Rab MAE, Nieuwenhuis EES, Jans JJM, Bartels M, van Wijk R.
van Dooijeweert B, et al. Among authors: broeks mh.
Hemasphere. 2021 Jun 12;5(7):e591. doi: 10.1097/HS9.0000000000000591. eCollection 2021 Jul.
Hemasphere. 2021.
PMID: 34131631
Free PMC article.
No abstract available.
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Parasitic, bacterial, viral, immune-mediated, metabolic and nutritional factors associated with nodding syndrome.
Edridge AWD, Abd-Elfarag G, Deijs M, Broeks MH, Cristella C, Sie B, Vaz FM, Jans JJM, Calis J, Verhoef H, Demir A, Poppert S, Nickel B, van Dam A, Sebit B, Titulaer MJ, Verweij JJ, de Jong MD, van Gool T, Faragher B, Verhoeven-Duif NM, Elledge SJ, van der Hoek L, Boele van Hensbroek M.
Edridge AWD, et al. Among authors: broeks mh.
Brain Commun. 2023 Aug 17;5(5):fcad223. doi: 10.1093/braincomms/fcad223. eCollection 2023.
Brain Commun. 2023.
PMID: 37731906
Free PMC article.
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