Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
Dopa-responsive dystonia. / Doparesponsive dystonier.
Tidsskr Nor Laegeforen
; 138(19)2018 11 27.
Artigo
em Inglês, Norueguês
| MEDLINE | ID: mdl-30497245
9.
Troublesome eye movements. / Sjenerende øyebevegelser.
Tidsskr Nor Laegeforen
; 139(13)2019 Sep 24.
Artigo
em Norueguês, Inglês
| MEDLINE | ID: mdl-31556522
10.
Increased Sphingomyelin and Free Sialic Acid in Cerebrospinal Fluid of Kearns-Sayre Syndrome: New Findings Using Untargeted Metabolomics.
Pediatr Neurol
; 143: 68-76, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37018879
11.
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