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2024-03-23T03:06:47Z
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Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency
10.1006/mgme.2001.3213
11592814
000171468700015
N.
Blau
author
L.
Bonafe
author
B.
Thony
author
article
review
2001-10
Molecular Genetics and Metabolism
1096-7192
journal
74
1-2
172-85
Alcohol Oxidoreductases/*deficiency/*genetics
Animals
Biopterin/*analogs & derivatives/biosynthesis/*deficiency/*genetics
Dystonia/*diagnosis/drug therapy/enzymology/*genetics
Humans
Phenylalanine/*blood/urine
Phenylketonurias/pathology
Journal Article
Research Support, Non-U.S. Gov't
Review --- Old month value: Sep-Oct
60_published
peer-reviewed