| 1 |
Argininemia (ARG) |
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| 2 |
Argininosuccinic aciduria (ASA) |
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| 15 |
Carbamoyl-phosphate synthase deficeincey (CPS) |
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| 6 |
Citrullinemia type I (CIT-I) |
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| 7 |
Citrullinemia type II (CIT-II) |
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| 16 |
Dihydrolipoamide dehydrogenase deficiency (E3) |
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| 4 |
Disorders of biopterin biosynthesis (BIOPT BS) |
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| 5 |
Disorders of biopterin regeneration (BIOPT REG) |
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| 17 |
Girate atrophy of the retina (Hyper ORN) |
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| 18 |
Histidinemia (HIS) |
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| 9 |
Homocystinuria (HCY) |
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| 19 |
Homocystinuria-megaloblastic anemia (CBL G) |
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| 20 |
Hydroxyprolinemia (OH PRO) |
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| 21 |
Hyperlysinemia (Hyper LYS) |
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| 10 |
Hypermethioninemia (MET) |
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| 22 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome (HHH) |
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| 3 |
Hyperphenylalaninemia (variant, benign) (H-PHE) |
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| 23 |
Hyperprolinemia type I (PRO I) |
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| 24 |
Hyperprolinemia type II (PRO II) |
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| 11 |
Maple syrup urine disease (MSUD) |
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| 25 |
Methylcobalamin deficiency (CBL E) |
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| 26 |
Methylene tetrahydrofolate reductase deficiency (MTHFR) |
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| 27 |
Nonketotic hyperglycinemia (glycine encephalopathy) (NKHG) |
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| 28 |
Ornithine transcarbamylase deficiency (OTC) |
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| 8 |
Phenylketonuria (PKU) |
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| 29 |
Pyroglutamic acidemia (5-OXO) |
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| 30 |
Pyruvate carboxylase deficiency |
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| 12 |
Tyrosinemia type I (TYR-1) |
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| 13 |
Tyrosinemia type II (TYR-II) |
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| 14 |
Tyrosinemia type III (TYR-III) |
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| 31 |
Valinemia (Hyper VAL) |
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