Detalhe da pesquisa
1.
Treatment of AICA ribosiduria by suppression of de novo purine synthesis.
Mol Genet Metab
; 141(3): 108124, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38244287
2.
A mutation in the neonatal isoform of SCN2A causes neonatal-onset epilepsy.
Am J Med Genet A
; 188(3): 941-947, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34874093
3.
Metabolic control during the neonatal period in phenylketonuria: associations with childhood IQ.
Pediatr Res
; 91(4): 874-878, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34497359
4.
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.
J Inherit Metab Dis
; 45(6): 1070-1081, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054426
5.
3-Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency-A novel disorder of valine metabolism.
J Inherit Metab Dis
; 44(6): 1323-1329, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176136
6.
Children and Adolescents with Early Treated Phenylketonuria: Cognitive Development and Fluctuations of Blood Phenylalanine Levels.
Int J Environ Res Public Health
; 21(4)2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38673342
7.
Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy.
Orphanet J Rare Dis
; 16(1): 477, 2021 11 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34794480
8.
Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome.
Nutrients
; 13(1)2020 Dec 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-33396520
9.
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
10.
Long-term ketone body therapy of severe multiple acyl-CoA dehydrogenase deficiency: A case report.
Nutrition
; 60: 122-128, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30557775
11.
Ketone body therapy with D/L-ß-hydroxybutyric acid solution in severe MADD.
Mol Genet Metab Rep
; 20: 100491, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31312603
12.
Effect of a Sodium and Calcium DL-ß-Hydroxybutyrate Salt in Healthy Adults.
J Nutr Metab
; 2018: 9812806, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29850235
13.
Effect of dietary regime on metabolic control in phenylketonuria: Is exact calculation of phenylalanine intake really necessary?
Mol Genet Metab Rep
; 5: 36-41, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28649540
14.
Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study.
JIMD Rep
; 13: 101-9, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24190797