Detalhe da pesquisa
1.
Therapeutic strategy for Fabry disease by intravenous administration of adeno-associated virus 2 or 9 in α-galactosidase A-deficient mice.
J Gene Med
; 25(12): e3560, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37392007
2.
Investigation of the efficacy and adverse effects of lacosamide over 36 months.
Epilepsy Behav
; 144: 109227, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-37207404
3.
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Genet Med
; 24(12): 2453-2463, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36305856
4.
An Adolescent Patient with Sick Sinus Syndrome Complicated by Hypothyroidism Carrying an SCN5A Variant.
Int Heart J
; 63(3): 627-632, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35650162
5.
Beta-propeller protein-associated neurodegeneration presenting Rett-like features: A case report and literature review.
Am J Med Genet A
; 185(2): 579-583, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33251766
6.
Neurodevelopmental outcome and respiratory management of congenital central hypoventilation syndrome: a retrospective study.
BMC Pediatr
; 20(1): 342, 2020 07 13.
Artigo
Inglês
| MEDLINE | ID: mdl-32660452
7.
Demyelinating neuropathy in a 6-year-old girl with autism spectrum disorder.
Pediatr Int
; 59(8): 951-954, 2017 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-28804976
8.
First anaphylaxis case from a deodorant spray including lysozyme chloride.
Pediatr Int
; 63(4): 469-470, 2021 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-33638259
9.
[Transient epileptic amnesia].
Nihon Rinsho
; 74(3): 466-70, 2016 Mar.
Artigo
Japonês
| MEDLINE | ID: mdl-27025088
10.
[Relation between psychological development and respiratory management in patients with congenital central hypoventilation syndrome in Japan].
No To Hattatsu
; 47(5): 343-7, 2015 Sep.
Artigo
Japonês
| MEDLINE | ID: mdl-26502650
11.
Therapeutic Strategy for Fabry Disease by Intravenous Administration of Adeno-Associated Virus 9 in a Symptomatic Mouse Model.
Hum Gene Ther
; 35(5-6): 192-201, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38386497
12.
The first case of hemorrhagic shock and encephalopathy syndrome with fulminant hypercytokinemia associated with pediatric COVID-19.
Brain Dev
; 46(1): 44-48, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37730452
13.
Uncovering genes required for neuronal morphology by morphology-based gene trap screening with a revertible retrovirus vector.
FASEB J
; 26(11): 4662-74, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22874834
14.
Adeno-associated virus vector-based gene therapies for pediatric diseases.
Pediatr Neonatol
; 64 Suppl 1: S3-S9, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36266189
15.
Wound healing responses of urinary extravasation after urethral injury.
Sci Rep
; 13(1): 10628, 2023 06 30.
Artigo
Inglês
| MEDLINE | ID: mdl-37391520
16.
Neonatal onset of Niemann-Pick disease type C in a patient with cholesterol re-accumulation in the transplanted liver and inflammatory bowel disease.
Brain Dev
; 45(9): 517-522, 2023 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-37429811
17.
Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2.
Front Neurosci
; 17: 1085082, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-36922927
18.
Glucocorticoids inhibit MUC5AC production induced by transforming growth factor-α in human respiratory cells.
Allergol Int
; 61(3): 451-9, 2012 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-22824974
19.
WDR45 variants cause ferrous iron loss due to impaired ferritinophagy associated with nuclear receptor coactivator 4 and WD repeat domain phosphoinositide interacting protein 4 reduction.
Brain Commun
; 4(6): fcac304, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36751498
20.
Recurrent pneumonia in three patients with MECP2 duplication syndrome with aspiration as the possible cause.
Brain Dev
; 44(7): 486-491, 2022 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-35351320