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1 Ergebnisse
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Severe neonatal MEGDHEL syndrome with a homozygous truncati..:
Fellman, Vineta
;
Banerjee, Rishi
;
Lin, Kai-Lan
...
10.1016/j.bbadis.2021.166298. , 2021
Link:
http://hdl.handle.net/10138/337458
RT Journal T1
Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1
UL https://suche.suub.uni-bremen.de/peid=base-ftunivhelsihelda:oai:helda.helsinki.fi:10138_337458&Exemplar=1&LAN=DE A1 Fellman, Vineta A1 Banerjee, Rishi A1 Lin, Kai-Lan A1 Pulli, Ilari A1 Cooper, Helen A1 Tyynismaa, Henna A1 Kallijärvi, Jukka PB Elsevier Scientific Publ. Co YR 2021 K1 Mitochondrial disease K1 Newborn infant K1 Respiratory chain K1 Endoplasmic reticulum K1 Cholesterol trafficking K1 MEGDEL SYNDROME K1 3-METHYLGLUTACONIC ACIDURIA K1 DEAFNESS K1 DEFICIENCY K1 DYSTONIA K1 ENCEPHALOPATHY K1 DYSFUNCTION K1 Biochemistry K1 cell and molecular biology JF 10.1016/j.bbadis.2021.166298 LK http://hdl.handle.net/10138/337458 DO http://hdl.handle.net/10138/337458 SF ELIB - SuUB Bremen
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