Detalhe da pesquisa
1.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32668217
2.
Does the 48-hour BH4 loading test miss responsive PKU patients?
Mol Genet Metab
; 129(3): 186-192, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31924462
3.
Tetrahydrobiopterin treatment in phenylketonuria: A repurposing approach.
J Inherit Metab Dis
; 43(2): 189-199, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31373030
4.
The first European guidelines on phenylketonuria: Usefulness and implications for BH4 responsiveness testing.
J Inherit Metab Dis
; 43(2): 244-250, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31503351
5.
Anthropomorphic measurements and nutritional biomarkers after 5â¯years of BH4 treatment in phenylketonuria patients.
Mol Genet Metab
; 124(4): 238-242, 2018 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30078395
6.
Dietary Liberalization in Tetrahydrobiopterin-Treated PKU Patients: Does It Improve Outcomes?
Nutrients
; 14(18)2022 Sep 19.
Artigo
Inglês
| MEDLINE | ID: mdl-36145250