Detalhe da pesquisa
1.
The diagnostic challenge of mild citrulline elevation at newborn screening.
Mol Genet Metab
; 135(4): 327-332, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35279366
2.
Chronic liver involvement in urea cycle disorders.
J Inherit Metab Dis
; 42(6): 1118-1127, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31260111
3.
A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition.
Metabolites
; 10(2)2020 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31991569
4.
Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanisms.
Biochim Biophys Acta
; 1762(4): 478-84, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16495038
5.
Fruit-induced FPIES masquerading as hereditary fructose intolerance.
Pediatrics
; 134(2): e602-5, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25002667
6.
Cognitive findings and behavior in children and adolescents with phenylketonuria.
J Dev Behav Pediatr
; 34(6): 392-8, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23782895
7.
Living with phenylketonuria from the point of view of children, adolescents, and young adults: a qualitative study.
J Dev Behav Pediatr
; 33(3): 229-35, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22249384