@ARTICLE{
author={Bjelica Milena|,Stojadinovic Aleksandra|0009-0002-0750-313X,Knezevic-Pogancev Marija F|,Koprivsek Katarina M|,Sass Jorn Oliver|,Gruenert Sarah C|,Wuensche Falko|,Yamamoto Raina|},
year={2025},
title={3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report of a child with rare HMGCL gene variants},
journal={JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM},
volume={},
number={},
pages={-},
document_type={Article; Early Access},
} 

@ARTICLE{
author={Laudus Nele|,Audrezet Marie-Pierre|,Girodon Emmanuelle|,Morris Michael A|,Radojkovic Dragica P|,Raynal Caroline|,Seia Manuela|,Stambergova Alexandra|,Torkler Heike|,Yamamoto Raina|,Dequeker Elisabeth MC|},
year={2020},
title={Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement},
journal={JOURNAL OF CYSTIC FIBROSIS},
volume={19},
number={6},
pages={969-974},
document_type={Article},
}