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1 Ergebnisse
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Case Report: Severe Hypotonia Without Hyperphenylalaninemia..:
Yun Chen
;
Kaiyu Liu
;
Zailan Yang
..
https://www.frontiersin.org/articles/10.3389/fgene.2022.929069/full. , 2022
Link:
https://doi.org/10.3389/fgene.2022.929069
RT Journal T1 <Title>Case Report: Severe Hypotonia Without Hyperphenylalaninemia Caused by a Homozygous GCH1 Variant: A Case Report and Literature Review</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:129f105292504b12b15727f2a4e18ad1&Exemplar=1&LAN=DE A1 Yun Chen A1 Kaiyu Liu A1 Zailan Yang A1 Yaozhou Wang A1 Hao Zhou PB Frontiers Media S.A. YR 2022 K1 GCH1 K1 dopa-responsive dystonia K1 hypotonia K1 homozygous K1 variant K1 Genetics K1 QH426-470 JF https://www.frontiersin.org/articles/10.3389/fgene.2022.929069/full LK http://dx.doi.org/https://doi.org/10.3389/fgene.2022.929069 DO https://doi.org/10.3389/fgene.2022.929069 SF ELIB - SuUB Bremen
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