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Naslov 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report of a child with rare HMGCL gene variants (Article; Early Access)
Autori Bjelica Milena Stojadinovic Aleksandra Knezevic-Pogancev Marija F Koprivsek Katarina M Sass Jorn Oliver Gruenert Sarah C Wuensche Falko Yamamoto Raina 
Info JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, (2025), vol. br. , str. -
Projekat MVZ Dr. Eberhard & Partner Dortmund [514177501, 528562393-FIP26, 538669957]; Deutsche Forschungsgemeinschaft (DFG, German Research Foundation)
Ispravka Web of Science   Članak   Elečas   Rang časopisa   Citati:
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Naslov Laboratory reporting on the clinical spectrum of CFTR p.Arg117His: Still room for improvement (Article)
Autori 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 
Info JOURNAL OF CYSTIC FIBROSIS, (2020), vol. 19 br. 6, str. 969-974
Ispravka Web of Science   Članak   Elečas   Rang časopisa   Citati: Web of Science   Scopus  
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