Detalhe da pesquisa
1.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 47(3): 447-462, 2024 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38499966
2.
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.
J Inherit Metab Dis
; 2023 Jul 15.
Artigo
Inglês
| MEDLINE | ID: mdl-37452721
3.
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
Inglês
| MEDLINE | ID: mdl-34245036
4.
KCNQ2 Encephalopathy and Responsiveness to Pyridoxal-5'-Phosphate.
J Pediatr Genet
; 12(1): 90-94, 2023 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-36684546
5.
Erratum: Erratum: KCNQ2 Encephalopathy and Responsiveness to Pyridoxal-5'-Phosphate.
J Pediatr Genet
; 12(1): e1, 2023 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-36688947
6.
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Nat Commun
; 12(1): 5529, 2021 09 20.
Artigo
Inglês
| MEDLINE | ID: mdl-34545092
7.
Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong.
Child Neurol Open
; 2(2): 2329048X15585345, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-28503591