Detalhe da pesquisa
1.
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
J Inherit Metab Dis
; 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38563533
2.
Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review.
Clin Genet
; 98(5): 507-514, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32799315
3.
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.
J Inherit Metab Dis
; 43(4): 712-725, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31930732
4.
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Am J Hum Genet
; 99(3): 695-703, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27545681
5.
The "Young Metabolic Society": An interest group for young professionals in the field of metabolic medicine.
J Inherit Metab Dis
; 44(4): 789, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34131931
6.
Validated UPLC-MS/MS method for the analysis of vitamin B6 pyridoxal 5Ì-phosphate, pyridoxal, pyridoxine, pyridoxamine, and pyridoxic acid in human cerebrospinal fluid.
J Chromatogr B Analyt Technol Biomed Life Sci
; 1212: 123503, 2022 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36279779