Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: Effect of oral phenylalanine loading

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Techniques in diagnostic human biochemical genetics

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Genetic Analysis, Genetic Testing, Molecular Diagnostic Techniques +7

Oral phenylalanine loading in dopa‐responsive dystonia

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Tyrosine Profiles, Health Sciences, Plasma Tyrosine +10

Differential diagnosis of hyperphenylalaninaemia by a combined phenylalanine-tetrahydrobiopterin loading test

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Biochemistry, Medicine, Differential Diagnosis +4

Dihydropteridine reductase deficiency localized to the central nervous system

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