Detalhe da pesquisa
1.
RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing.
J Hum Genet
; 69(2): 91-99, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38102195
2.
Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study.
J Inherit Metab Dis
; 46(4): 618-633, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37114839
3.
Retrotransposition disrupting EBP in a girl and her mother with X-linked dominant chondrodysplasia punctata.
J Hum Genet
; 67(5): 303-306, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34999728
4.
Muscle biochemical and pathological diagnosis in Pompe disease.
J Neurol Neurosurg Psychiatry
; 2022 Apr 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35470251
5.
Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via 13C-fatty acid loading test.
Pediatr Res
; 92(5): 1391-1399, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35136200
6.
Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant.
J Hum Genet
; 66(12): 1185-1187, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34112922
7.
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Clin Genet
; 100(1): 40-50, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33644862
8.
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures.
J Hum Genet
; 64(4): 313-322, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30655572
9.
De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.
Hum Genet
; 137(1): 95-104, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29322246
10.
A novel PHKA2 variant in a Japanese boy with glycogen storage diseases type IXa.
Pediatr Int
; 64(1): e14839, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34837663
11.
[Abnormal cerebral blood flow distributions during the post-ictal phase of febrile status epilepticus in three pediatric patients measured by arterial spin labeling perfusion MRI].
No To Hattatsu
; 48(3): 213-7, 2016 May.
Artigo
em Japonês
| MEDLINE | ID: mdl-27349086
12.
[Recurrent posterior reversible encephalopathy due to vasospasm and cerebral hypoperfusionin in acute leukemia: a case report].
No To Hattatsu
; 47(6): 449-53, 2015 Nov.
Artigo
em Japonês
| MEDLINE | ID: mdl-26717647
13.
Monitoring of anti-L-asparaginase antibody and L-asparaginase activity levels in a pediatric patient with acute lymphoblastic leukemia and hypersensitivity to native Escherichia coli L-asparaginase during desensitization courses.
J Pediatr Hematol Oncol
; 36(2): e91-3, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23689289
14.
Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome.
Front Pediatr
; 12: 1360867, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38628357
15.
Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study.
J Inherit Metab Dis
; 35(2): 301-10, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21984055
16.
Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency.
Intern Med
; 61(8): 1241-1245, 2022 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34615823
17.
A Mild Clinical Phenotype with Myopathic and Hemolytic Forms of Phosphoglycerate Kinase Deficiency (PGK Osaka): A Case Report and Literature Review.
Intern Med
; 61(23): 3589-3594, 2022 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35527021
18.
A 78-year-old Japanese male with late-onset PHKA1-associated distal myopathy: Case report and literature review.
Neuromuscul Disord
; 32(9): 769-773, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35710611
19.
[We fully enjoy our career and life].
No To Hattatsu
; 48(3): 159-68, 2016 May.
Artigo
em Japonês
| MEDLINE | ID: mdl-27349076
20.
Guidelines for the diagnosis and treatment of acute encephalopathy in childhood.
Brain Dev
; 43(1): 2-31, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32829972