Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation

Cannet, C; Pilotto, A; Rocha, JC; Schafer, H; Spraul, M; Berg, D; Nawroth, P; Kasperk, C; Gramer, G; Haas, D; Piel, D; Kolker, S; Hoffmann, G; Freisinger, P; Trefz, F

Trefz, F (corresponding author), Univ Hosp, Dept Pediat, Ctr Pediat & Adolescent Med, Div Neuropaediatr & Metab Med, Heidelberg, Germany.; Trefz, F (corresponding author), Metabol Consulting, Reutlingen, Germany.

ORPHANET JOURNAL OF RARE DISEASES, 2020; 15 (1):

Abstract

Background Phenylketonuria (PKU; OMIM#261600) is a rare metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene resulting i......

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