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Beneficios claros de la detección temprana
Desórdenes Primarios
Desórdenes Del Aminoácido
Argininocuccinyl-CO A lysase deficiency (ASAL deficiency
Homocystinuria/ cystathionine beta-synthase deficiency (CBS deficiency)
Desórdenes Del Ácido Orgánico
Methylmelonic acidemia (Cbl A, B)
Multiple Carboxylase deficiency (MCD)
Desórdenes De la Oxidación Del Ácido Graso
Carnitine transporter deficiency
Carnitine palmitoyl transfer deficiency-type 1 (CPT-1 deficiency)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD deficiency)
Very long chain acyl-CoA dehydrogenase deficiency (VLCAD deficiency)
Desórdenes Secundarios
Homocitrulinuria hyperomithinenia, hyperammonemia -HHH
Hyperornithinemia with gyrate atrophy of the cornea and retina
Tyrosenemia Type I (TYR-1)
INVESTIGACIÓN OBLIGATORIA
Desórdenes Primarias
Desórdenes Del Aminoácido
Biopterin Disorders (4)
Hyperphenylalaninemia -Classical Phenylketonuria (PKU)
Hyperphenylalaninemia -Variant PKU |
