Ciapaite, Jolita
75  Ergebnisse:
Personensuche X
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5

Pyridox(am)ine 5′-phosphate oxidase (PNPO) deficiency in ze..:

Ciapaite, Jolita ; Albersen, Monique ; Savelberg, Sanne M.C....
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1866 (2020)  3 - p. 165607 , 2020
 
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8

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartat..:

van Karnebeek, Clara D.M. ; Ramos, Rúben J. ; Wen, Xiao-Yan...
The American Journal of Human Genetics.  105 (2019)  3 - p. 534-548 , 2019
 
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