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- PAH
- TYR
- Phenylketonuria
- LIPA : lipase A, lysosomal acid type
- PTS : 6-pyruvoyltetrahydropterin synthase
- GCH1 : GTP cyclohydrolase 1
- PCBD1 : pterin-4 alpha-carbinolamine dehydratase 1
- MMUT : methylmalonyl-CoA mutase
- SCN9A : sodium voltage-gated channel alpha subunit 9
- AANAT
- GCHFR
- LALBA
- LYPLAL1
- PLAGL1 : PLAG1 like zinc finger 1
- Top Clinical Geneticists in India
- Wolman Disease
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