Detalhe da pesquisa
1.
Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations.
Mol Genet Metab
; 141(3): 108148, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38302374
2.
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Mol Genet Metab
; 142(1): 108363, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38452608
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.
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.
Hum Genet
; 142(12): 1755-1776, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37962671
5.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
6.
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.
Ann Neurol
; 92(2): 292-303, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616651
7.
The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.
Epilepsia
; 64(6): 1516-1526, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36961285
8.
Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1.
J Inherit Metab Dis
; 2023 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38084654
9.
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up.
J Inherit Metab Dis
; 2023 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37402126
10.
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
11.
Relationship of Genotype, Phenotype, and Treatment in Dopa-Responsive Dystonia: MDSGene Review.
Mov Disord
; 37(2): 237-252, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34908184
12.
How longitudinal observational studies can guide screening strategy for rare diseases.
J Inherit Metab Dis
; 45(5): 889-901, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35488475
13.
Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders.
Neuroradiology
; 64(11): 2179-2190, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35662359
14.
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience.
Mol Genet Metab
; 133(1): 56-62, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33744095
15.
Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins.
Mol Genet Metab
; 134(1-2): 147-155, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34479793
16.
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Mov Disord
; 36(3): 690-703, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33152132
17.
Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria.
J Inherit Metab Dis
; 44(5): 1272-1287, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34145613
18.
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
19.
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
20.
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Am J Hum Genet
; 100(2): 257-266, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132689