Detalhe da pesquisa
1.
Clinical outcomes in pregnant women with coronavirus disease 2019 in a perinatal medical centre in Japan: a retrospective study of the first 1 year of the pandemic.
J Obstet Gynaecol
; 42(7): 2684-2692, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35678738
2.
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Am J Med Genet A
; 182(10): 2333-2344, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32803813
3.
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease.
J Hum Genet
; 64(7): 695-699, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30988410
4.
The beneficial effects of long-term enzyme replacement therapy on cardiac involvement in Japanese Fabry patients.
Mol Genet Metab
; 124(2): 143-151, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29747997
5.
Selective bronchial occlusion as treatment for pulmonary interstitial emphysema.
Pediatr Int
; 64(1): e14848, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34747099
6.
Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST).
Clin Exp Nephrol
; 20(2): 284-93, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26197777
7.
Characteristics of Cerebral Microbleeds in Patients with Fabry Disease.
J Stroke Cerebrovasc Dis
; 25(6): 1320-5, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26987491
8.
Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain.
Mol Genet Metab
; 110(3): 405-10, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23906479
9.
No accumulation of globotriaosylceramide in the heart of a patient with the E66Q mutation in the α-galactosidase A gene.
Mol Genet Metab
; 107(4): 711-5, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23146289
10.
Risk factors for hyperglycemia in extremely low birth weight infants during the first 14 days.
Pediatr Neonatol
; 63(1): 13-18, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34330686
11.
Experience with enteral sulfonylurea monotherapy for extremely low birth weight infants with hyperglycemia.
Clin Pediatr Endocrinol
; 31(4): 225-233, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36405438
12.
The role of native T1 values on the evaluation of cardiac manifestation in Japanese Fabry disease patients.
Mol Genet Metab Rep
; 31: 100858, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35782602
13.
Myeloschisis repair in a premature neonate with a birth weight of 599 g.
Pediatr Neurosurg
; 47(5): 379-82, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22571956
14.
Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapy.
Mol Genet Metab Rep
; 24: 100623, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32714835
15.
Characteristics of the Electrocardiogram in Japanese Fabry Patients Under Long-Term Enzyme Replacement Therapy.
Front Cardiovasc Med
; 7: 614129, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33521063
16.
Clinical findings of gadolinium-enhanced cardiac magnetic resonance in Fabry patients.
J Cardiol
; 75(1): 27-33, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31623930
17.
Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction.
Hum Genome Var
; 5: 11, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29899996
18.
Characterization of a Small Supernumerary Marker Chromosome Derived from Xq28 and 14q11.2 Detected Prenatally.
Case Rep Obstet Gynecol
; 2018: 2875241, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29854510
19.
Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome.
Hum Genome Var
; 5: 5, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29760939
20.
Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions.
JIMD Rep
; 30: 63-72, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27255140