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Sepiapterin reductase deficiency
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publication
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
2020 |
1. lékařská fakulta
publication
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry
2021 |
1. lékařská fakulta