Detalhe da pesquisa
1.
Imbalance in T-Helper 17 Cells and Targeted Therapy in an Infant with SAM-like Syndrome.
N Engl J Med
; 381(22): 2176-2178, 2019 11 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31774967
2.
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.
J Clin Med
; 11(17)2022 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36078975
3.
High Blood Pressure in a Urea Cycle Disorder: Case Report.
AJP Rep
; 10(4): e347-e351, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33133764
4.
Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders.
J Pharm Biomed Anal
; 176: 112798, 2019 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31394303
5.
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.
Eur J Hum Genet
; 27(4): 556-562, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30626930