Detalhe da pesquisa
1.
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
2.
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.
Ann Neurol
; 92(2): 292-303, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616651
3.
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
4.
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
5.
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
6.
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
7.
Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.
Int J Mol Sci
; 21(22)2020 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33203024
8.
Corrigendum to: 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(4): 107647, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453860
9.
An AI-based segmentation and analysis pipeline for high-field MR monitoring of cerebral organoids.
Sci Rep
; 13(1): 21231, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38040865
10.
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Nat Commun
; 12(1): 5529, 2021 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-34545092
11.
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Orphanet J Rare Dis
; 15(1): 126, 2020 05 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32456656
12.
Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Orphanet J Rare Dis
; 15(1): 202, 2020 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32758270
13.
Analysis of Catecholamines and Pterins in Inborn Errors of Monoamine Neurotransmitter Metabolism-From Past to Future.
Cells
; 8(8)2019 08 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31405045