Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.

Willemijn J van RijtEmmalie A JagerDerk P AllersmaA Çiğdem Aktuğlu ZeybekKaustuv BhattacharyaFrançois-Guillaume DebrayCarolyn J EllawayMatthias GautschiMichael T GeraghtyDavid Gil-OrtegaAustin A LarsonFrancesca MooreEva MoravaAndrew A MorrisKimihiko OishiManuel SchiffSabine Scholl-BürgiMichel C TchanJerry VockleyPeter WittersSaskia B WortmannFrancjan van SpronsenJohan L K Van HoveTerry G J Derks

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

The strength of the current study is the international pooling of data demonstrating that D,L-3-HB treatment can be effective and safe in MADD(-like) patients.

Keyphrases

end stage renal disease
chronic kidney disease
ejection fraction
newly diagnosed
peritoneal dialysis
replacement therapy
combination therapy
deep learning