Uhlig, F.
572  results:
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1

Treatment of AICA ribosiduria by suppression of de novo pur..:

Park, Julien H. ; Och, Ulrike ; Braun, Tim...
Molecular Genetics and Metabolism.  141 (2024)  3 - p. 108124 , 2024
 
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Phosphomannomutase 2 (PMM2) variants leading to hyperinsuli..:

Kiparissi, F ; Dastamani, A ; Palm, L...
https://discovery.ucl.ac.uk/id/eprint/10165754/1/Kleta_Phosphomannomutase%202%20%28PMM2%29%20variants%20leading%20to%20hyperinsulinism-polycystic%20kidney%20disease%20are%20associated%20with%20early-onset%20inflammatory%20bowel%20disease%20and%20gastric%20antral%20foveolar%20hyperplasia_VoR.pdf.  , 2023
 
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