Detalhe da pesquisa
1.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 44(1): 178-192, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200442
2.
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Int J Neonatal Screen
; 6(3): 51, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33123633
3.
Dietary practices in methylmalonic acidaemia: a European survey.
J Pediatr Endocrinol Metab
; 33(1): 147-155, 2020 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31846426
4.
High dietary folic Acid and high plasma folate in children and adults with phenylketonuria.
JIMD Rep
; 13: 83-90, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24136656