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Items: 16

1.

#261640 - HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A; HPABH4A

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, DUE TO PARTIAL PTS DEFICIENCY, INCLUDED

Cytogenetic locations: 614908

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#261600 - PHENYLKETONURIA; PKU

HYPERPHENYLALANINEMIA, NON-PKU MILD, INCLUDED

Cytogenetic locations: 11683647

10.

#233910 - HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE, INCLUDED

Cytogenetic locations: 617828

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#168600 - PARKINSON DISEASE, LATE-ONSET; PD

Cytogenetic locations: 1p36, 1p36, 1p36, 607849, 1p36, 613386, 1p36

15.

*163731 - NITRIC OXIDE SYNTHASE 1; NOS1

NITRIC OXIDE SYNTHASE, NEURONAL, INCLUDED

Cytogenetic locations: 17685260

16.
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