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List of works by Patricia Alcaide

Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene

scientific article published on 5 November 2009

Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.

scientific article published on 16 September 2014

Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers

scientific article published on 29 July 2017

Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients

scientific article

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