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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 |
