Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2019 | 1 |
2020 | 1 |
2021 | 4 |
2023 | 0 |
Search Results
6 results
Results by year
Page 1
Inborn disorders of the malate aspartate shuttle.
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.
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.
Item in Clipboard
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.
Item in Clipboard
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.
Item in Clipboard
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.
Item in Clipboard
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
Item in Clipboard
Cite
Cite