Concepedia
Molecular Genetics and Metabolism · 2004 · 40 citations · 17 references
Life SciencesDiagnostic SciencesClinical BiochemistryClinical MedicineClinical NutritionAmino Acid Metabolism DisordersDiagnostic Test UtilizationDiagnostic Test ProceduresDiagnostic Test YieldPhenylalanine Metabolism
17
Tetrahydrobiopterin biosynthesis, regeneration and functions
Beat Thöny, Günter Auerbach, Nenad Blau · Biochemical Journal · 2000 · 857 citations · Full text
Life Sciences, Biochemistry, Molecular Biology +17
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
Hiroshi Ichinose, Tamae Ohye, Ei-ichi Takahashi et al. · Nature Genetics · 1994 · 775 citations
Life Sciences, Genetics, Neurology +12
Hereditary progressive dystonia with marked diurnal fluctuation
Masaya Segawa, Yoshiko Nomura · Key topics in brain research · 1991 · 474 citations
Medicine, Neurology, Neuroscience +9
Techniques in diagnostic human biochemical genetics
Emmanuel Shapira · Europe PMC (PubMed Central) · 1991 · 351 citations
Life Sciences, Genetics, Molecular Genetics +7
Beat Thöny, Günter Auerbach, Nenad Blau · Biochemical Journal · 2000 · 195 citations