Genotype-phenotype correlation in MCADD detected by newborn screening and relevance of L-carnitine supplemention in patients homozygous for the common c.985A>G mutation

Couce Pico, María Luz; Castiñeiras Ramos, Daisy E; Bóveda Fontán, María Dolores; Cocho de Juan, José Ángel; García Nimo, Laura; Sánchez Pintos, Paula

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URI: http://hdl.handle.net/20.500.11940/4097

DOI: 10.1007/s10545-013-9633-z

ISSN: 0141-8955

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Date issued

2013

Journal title

JOURNAL OF INHERITED METABOLIC DISEASE

Type of content

Publicación de congreso