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GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia
by
NIEDERWIEBER, A
,
BLAU, N
,
WANG, M
,
JOLLER, P
,
ATARES, M
,
CARDESA-GARCIA, J
Published in
European journal of pediatrics
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European Journal Of Pediatrics
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Subjects
Adolescent
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Aminohydrolases - Deficiency
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Biological And Medical Sciences
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Biopterins - Analogs & Derivatives
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Biopterins - Biosynthesis
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Biopterins - Deficiency
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Biopterins - Therapeutic Use
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Child
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Child, Preschool
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Deficiencies Of: Gtp Cyclohydrolase I, Neopterin, Tetrahydrobiopterin
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Dopamine - Deficiency
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Errors Of Metabolism
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Female
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Gtp Cyclohydrolase - Deficiency
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Humans
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Hyperphenylalaninemia
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Infant
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Life Sciences & Biomedicine
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Lipids
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Liver - Enzymology
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Springer Nature:jisc Collections:springer Nature Read And Publish 2023-2025: Springer Reading List
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Springerlink Online Journals Archive Complete
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Springerlink Contemporary 1997-Present
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