Detalhe da pesquisa
1.
Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.
Mov Disord
; 2024 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38685873
2.
Myelin basic protein recovery during PKU mice lifespan and the potential role of microRNAs on its regulation.
Neurobiol Dis
; 180: 106093, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36948260
3.
Towards precision medicine for phenylketonuria: The effect of restoring a strict metabolic control in adult patients with early-treated phenylketonuria.
Mol Genet Metab
; 140(3): 107666, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37549444
4.
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
5.
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature.
Int J Mol Sci
; 23(8)2022 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35457240
6.
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients.
Mol Genet Metab
; 131(1-2): 155-162, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32651154
7.
Clinical characterization of tremor in patients with phenylketonuria.
Mol Genet Metab
; 128(1-2): 53-56, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31208951
8.
Newborn screening for homocystinurias: Recent recommendations versus current practice.
J Inherit Metab Dis
; 42(1): 128-139, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740731
9.
A new therapy prevents intellectual disability in mouse with phenylketonuria.
Mol Genet Metab
; 124(1): 39-49, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29661557
10.
Predictability and inconsistencies in the cognitive outcome of early treated PKU patients.
J Inherit Metab Dis
; 40(6): 793-799, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28836033
11.
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency.
Eur J Pediatr
; 176(7): 917-924, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28540433
12.
Psychiatric disorders in adolescent and young adult patients with phenylketonuria.
Mol Genet Metab
; 117(1): 12-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26655635
13.
Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study.
Mol Genet Metab
; 115(2-3): 84-90, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25952249
14.
Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency.
Mol Genet Metab
; 115(4): 157-60, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26123188
15.
The outcome of white matter abnormalities in early treated phenylketonuric patients: A retrospective longitudinal long-term study.
Mol Genet Metab
; 116(3): 171-7, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26283467
16.
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
Brain
; 137(Pt 4): 1107-19, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24613933
17.
AP1S2-truncating variant in a patient with severe neurodevelopmental disorder and cerebral folate deficiency.
Acta Paediatr
; 108(3): 564-565, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30383884
18.
Case report: Childhood epilepsy and borderline intellectual functioning hiding an AADC deficiency disorder associated with compound heterozygous DDC gene pathogenic variants.
Front Neurol
; 14: 1284339, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38116105
19.
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism.
Genes (Basel)
; 14(2)2023 01 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36833190
20.
Early Energy Intake and Amino Acid Profile in Preterm Newborns: A Quasi-Experimental Study.
Nutrients
; 15(13)2023 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37447243