Effects of Germline VHL Deficiency on Growth, Metabolism, and Mitochondria

Perrotta, S; Roberti, D; Bencivenga, D; Corsetto, P; O'Brien, KA; Caiazza, M; Stampone, E; Allison, L; Fleck, RA; Scianguetta, S; Tartaglione, I; Robbins, PA; Casale, M; West, JA; Franzini-Armstrong, C; Griffin, JL; Rizzo, AM; Sinisi, AA; Murray, AJ; Borriello, A; Formenti, F; Della Ragione, F

Della Ragione, F (corresponding author), Univ Campania Luigi Vanvitelli, Dept Precis Med, Via De Crecchio 7, I-80138 Naples, Italy.; Formenti, F (corresponding author), Kings Coll London, Ctr Human & Appl Physiol Sci, Fac Life Sci & Med, London SE1 1UL, England.

NEW ENGLAND JOURNAL OF MEDICINE, 2020; 382 (9): 835

Abstract

A young man with polycythemia, reduced growth rate, persistent hypoglycemia, and mitochondrial defects first appearing at birth was found to have a sy......

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