-transparent.png){kind=logo}
Very-long-chain acyl-coenzyme A dehydrogenase deficiency in a child with recurrent myoglobinuria. 1998
C Minetti, and
B Garavaglia, and
M Bado, and
F Invernizzi, and
C Bruno, and
M Rimoldi, and
R Pons, and
F Taroni, and
G Cordone
Department of Paediatrics, University of Genova, Italy. minettic@unige.it
A 9-year-old boy had recurrent episodes of myoglobinuria and normal urinary organic acid profile. Very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency was detected biochemically in cultured skin fibroblasts and confirmed by Western blot analysis. The patient had a distinctive plasma fatty-acid profile, which was present even between attacks. Early diagnosis of this disorder is important because of the apparently protective effect of an appropriate dietary regimen.
Related Publications
C Minetti, and
B Garavaglia, and
M Bado, and
F Invernizzi, and
C Bruno, and
M Rimoldi, and
R Pons, and
F Taroni, and
G Cordone
June 1997,
Pediatrics,
C Minetti, and
B Garavaglia, and
M Bado, and
F Invernizzi, and
C Bruno, and
M Rimoldi, and
R Pons, and
F Taroni, and
G Cordone
March 1994,
Neurology,
C Minetti, and
B Garavaglia, and
M Bado, and
F Invernizzi, and
C Bruno, and
M Rimoldi, and
R Pons, and
F Taroni, and
G Cordone
February 2002,
Paediatric anaesthesia,
C Minetti, and
B Garavaglia, and
M Bado, and
F Invernizzi, and
C Bruno, and
M Rimoldi, and
R Pons, and
F Taroni, and
G Cordone
September 2003,
Circulation research,
C Minetti, and
B Garavaglia, and
M Bado, and
F Invernizzi, and
C Bruno, and
M Rimoldi, and
R Pons, and
F Taroni, and
G Cordone
April 1998,
Annals of neurology,
C Minetti, and
B Garavaglia, and
M Bado, and
F Invernizzi, and
C Bruno, and
M Rimoldi, and
R Pons, and
F Taroni, and
G Cordone
May 1991,
The Journal of pediatrics,
C Minetti, and
B Garavaglia, and
M Bado, and
F Invernizzi, and
C Bruno, and
M Rimoldi, and
R Pons, and
F Taroni, and
G Cordone
July 2015,
The journal of obstetrics and gynaecology research,
C Minetti, and
B Garavaglia, and
M Bado, and
F Invernizzi, and
C Bruno, and
M Rimoldi, and
R Pons, and
F Taroni, and
G Cordone
September 2020,
JA clinical reports,
C Minetti, and
B Garavaglia, and
M Bado, and
F Invernizzi, and
C Bruno, and
M Rimoldi, and
R Pons, and
F Taroni, and
G Cordone
April 2023,
Revista espanola de anestesiologia y reanimacion,
C Minetti, and
B Garavaglia, and
M Bado, and
F Invernizzi, and
C Bruno, and
M Rimoldi, and
R Pons, and
F Taroni, and
G Cordone
December 2012,
Journal of anesthesia,
