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Rebouche, Charles J.

Mayo Clinic

Mayo Clinic

Citations 4

Freeze‐fracture electronmicroscopic analysis of plasma membranes of cultured muscle cells in Duchenne dystrophy
Osame, Mitsuhiro, Engel, Andrew G. , Rebouche, Charles J., Scott, Robert E.

Neurology | May 13, 2012 | Volume: 31 | Issue: 8 | Pages: 972-972

10.1212/wnl.31.8.972 Get It

Primary systemic carnitine dehciency. II. Renal handling of carnitine
Engel, Andrew G. , Rebouche, Charles J., Wilson, David M. , Glasgow, Allen M., Romshe, Carolyn A., Cruse, Robert P.

Neurology | May 13, 2012 | Volume: 31 | Issue: 7 | Pages: 819-819

10.1212/wnl.31.7.819 Get It

Primary systemic carnitine deficiency
Rebouche, Charles J., Engel, Andrew G.

Neurology | May 13, 2012 | Volume: 31 | Issue: 7 | Pages: 813-813

10.1212/wnl.31.7.813 Get It

Carnitine metabolism and inborn errors
Engel, Andrew G. , Rebouche, Charles J.

Journal of Inherited Metabolic Disease | June 25, 2009 | Volume: 7 | Issue: S1 | Pages: 38-43

10.1007/bf03047372 Get It

AbstractCurrent knowledge of the metabolic role, biosynthesis, cellular uptake, excretion and turnover of carnitine is reviewed. The clinical spectrum and possible aetiology of the primary muscle and primary systemic carnitine deficiency syndromes are considered and the various genetic defects of intermediary metabolism which can give rise to secondary carnitine deficiency are indicated.