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searching for Tetrahydrobiopterin deficiency 1 found (21 total)
alternate case: tetrahydrobiopterin deficiency
Human disease modifier gene
(4,334 words)
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S2CID 4273141. Blau N, Thöny B, Heizmann CW, Dhondt JL (January 1993). "Tetrahydrobiopterin Deficiency: From Phenotype to Genotype" (PDF). Pteridines. 4 (1): 1–10