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1 Ergebnisse
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Predicting disease severity in metachromatic leukodystrophy..:
Marena Trinidad
;
Xinying Hong
;
Steven Froelich
...
https://doi.org/10.1186/s13059-023-03001-z. , 2023
Link:
https://doi.org/10.1186/s13059-023-03001-z
RT Journal T1
Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:4606464433f9464689ed0c85be47519b&Exemplar=1&LAN=DE A1 Marena Trinidad A1 Xinying Hong A1 Steven Froelich A1 Jessica Daiker A1 James Sacco A1 Hong Phuc Nguyen A1 Madelynn Campagna A1 Dean Suhr A1 Teryn Suhr A1 Jonathan H. LeBowitz A1 Michael H. Gelb A1 Wyatt T. Clark PB BMC YR 2023 K1 Metachromatic leukodystrophy K1 Genotype–phenotype relationship K1 Newborn screening K1 Mass spectrometry K1 Phenotype K1 Mutation K1 Biology (General) K1 QH301-705.5 K1 Genetics K1 QH426-470 JF https://doi.org/10.1186/s13059-023-03001-z LK http://dx.doi.org/https://doi.org/10.1186/s13059-023-03001-z DO https://doi.org/10.1186/s13059-023-03001-z SF ELIB - SuUB Bremen
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