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Biopsia en los errores innatos del metabolismoBiopsy in inborn errors of metabolism
(Instituto Nacional de Pediatría, 2010)
Investigation of inborn errors of metabolismInvestigação de erros inatos do metabolismo
(HCPA/FAMED/UFRGS, 2022)
Adelantándose al daño: el tamiz neonatal.
(Hospital Infantil de México Federico Gómez, 2003)
Cerebrotendinous Xanthomatosis Revealed in Drug-Resistant Epilepsy Diagnostic Workup
(Lippincott Williams, 2012-04)
Cerebrotendinous xanthomatosis (CTX) is a treatable disorder of bile acid production caused by mutations in the mitochondrial enzyme sterol 27-hydroxilase. This inborn error of bile acid metabolism results in lipid pathologic ...
BPAN manifesting with febrile seizures and language delay:a case report from Brazil
(HCPA/FAMED/UFRGS, 2021)
Plasma excitatory amino acids in autism
(Universidad del Zulia, 2013)