Detalhe da pesquisa
1.
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Brain
; 147(5): 1653-1666, 2024 May 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38380699
2.
Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights.
Mol Genet Metab
; 142(1): 108151, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38522180
3.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 47(3): 447-462, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38499966
4.
The burden of epilepsy on long-term outcome of genetic developmental and epileptic encephalopathies: A single tertiary center longitudinal retrospective cohort study.
Epilepsy Behav
; 152: 109670, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38335860
5.
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Genet Med
; 25(2): 100323, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36401616
6.
Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review.
Mol Genet Metab
; 139(2): 107588, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37149991
7.
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
8.
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
J Inherit Metab Dis
; 2023 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37452721
9.
Adult phenotype of KCNQ2 encephalopathy.
J Med Genet
; 59(6): 528-535, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33811133
10.
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
J Med Genet
; 59(9): 888-894, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34675124
11.
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.
Cerebellum
; 21(6): 1144-1150, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34846692
12.
Neurophysiological assessment of juvenile parkinsonism due to primary monoamine neurotransmitter disorders.
J Neural Transm (Vienna)
; 129(8): 1011-1021, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35829818
13.
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.
J Inherit Metab Dis
; 44(4): 1070-1082, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443316
14.
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.
J Inherit Metab Dis
; 44(6): 1489-1502, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34245036
15.
Molecular biomarkers to track clinical improvement following an integrative treatment model in autistic toddlers.
Acta Neuropsychiatr
; 33(5): 267-272, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33928890
16.
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
17.
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
J Inherit Metab Dis
; 43(5): 1121-1130, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32369189
18.
Clinical characterization of tremor in patients with phenylketonuria.
Mol Genet Metab
; 128(1-2): 53-56, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31208951
19.
Children's and parent's psychological profiles in selective mutism and generalized anxiety disorder: a clinical study.
Eur Child Adolesc Psychiatry
; 27(6): 775-783, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29081005
20.
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