Detalhe da pesquisa
1.
High-risk screening for Fabry disease in hemodialysis patients in Chiba Prefecture, Japan.
Clin Exp Nephrol
; 27(3): 288-294, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36574104
2.
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.
J Inherit Metab Dis
; 45(3): 431-444, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35142380
3.
The earliest enzyme replacement for infantile-onset Pompe disease in Japan.
Pediatr Int
; 64(1): e15286, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36074069
4.
Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.
Am J Med Genet A
; 185(7): 2026-2036, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33851512
5.
Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.
Mol Genet Genomic Med
; 12(4): e2427, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38553911
6.
Gene therapy for spinal muscular atrophy is considerably effective when administered as early as possible after birth.
Mol Genet Metab Rep
; 35: 100973, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37091744
7.
Frequency of iduronate-2-sulfatase gene variants detected in newborn screening for mucopolysaccharidosis type II in Japan.
Mol Genet Metab Rep
; 37: 101003, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38053932
8.
Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.
Front Genet
; 13: 952467, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36303552
9.
Newborn screening for spinal muscular atrophy in Japan: One year of experience.
Mol Genet Metab Rep
; 32: 100908, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35942129
10.
Newborn screening for Gaucher disease in Japan.
Mol Genet Metab Rep
; 31: 100850, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35242582
11.
High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.
Diagnostics (Basel)
; 11(10)2021 Sep 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34679477
12.
Characteristics of Neurological Symptoms in Adult Japanese Patients with Fabry Disease.
Intern Med
; 60(12): 1819-1826, 2021 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33456042
13.
Current status of newborn screening for Pompe disease in Japan.
Orphanet J Rare Dis
; 16(1): 516, 2021 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34922579
14.
Newborn Screening for Pompe Disease.
Int J Neonatal Screen
; 6(2): 31, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33073027
15.
Effect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case Report.
Case Rep Neurol
; 12(3): 299-306, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33082768
16.
Fabry disease screening in high-risk populations in Japan: a nationwide study.
Orphanet J Rare Dis
; 15(1): 220, 2020 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-32843101
17.
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screening.
Mol Genet Genomic Med
; 8(11): e1502, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33016649
18.
Newborn screening for Fabry disease in the western region of Japan.
Mol Genet Metab Rep
; 22: 100562, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31956509
19.
Rhabdomyolysis in organic acidemia patients manifesting with metabolic decompensation.
Hemodial Int
; 23(4): E115-E119, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31476111
20.
The Effect of S-Adenosylmethionine Treatment on Neurobehavioral Phenotypes in Lesch-Nyhan Disease: A Case Report.
Case Rep Neurol
; 11(3): 256-264, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607891