Detalhe da pesquisa
1.
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
2.
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
3.
Combined patterns of participation in cervical, breast, and colorectal cancer screenings and factors for non-participation in each screening among women in Japan.
Prev Med
; 150: 106627, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34019930
4.
Growth impairment in individuals with citrin deficiency.
J Inherit Metab Dis
; 42(3): 501-508, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30715743
5.
A preterm newborn-onset juvenile myelomonocytic leukemia-like myeloproliferation with PTPN11 mutation.
Pediatr Blood Cancer
; 70(2): e29915, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35997526
6.
Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review.
J Pediatr Hematol Oncol
; 40(5): 391-394, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29489735
7.
Metabolic and immunological assessment of small-for-gestational-age children during one-year treatment with growth hormone: the clinical impact of apolipoproteins.
Endocr J
; 65(4): 449-459, 2018 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29459555
8.
Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan.
Am J Med Genet A
; 173(2): 360-367, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28102591
9.
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.
J Hum Genet
; 61(5): 451-5, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26763878
10.
Designing Molecularly Imprinted Polymer-Modified Boron-Doped Diamond Electrodes for Highly Selective Electrochemical Drug Sensors.
ACS Sens
; 9(3): 1611-1619, 2024 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38471116
11.
Real-World Discontinuation and Switching Patterns for Interleukin-Inhibitor Treatments in Patients with Moderate-to-Severe Psoriasis in Japan.
Dermatol Ther (Heidelb)
; 14(1): 99-114, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38019410
12.
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
13.
Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome.
Am J Med Genet A
; 161A(1): 34-7, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23239432
14.
Long-term liposteroid therapy for idiopathic pulmonary hemosiderosis.
Eur J Pediatr
; 172(11): 1475-81, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23812505
15.
Trends in socioeconomic inequalities in cervical, breast, and colorectal cancer screening participation among women in Japan, 2010-2019.
Cancer Epidemiol
; 84: 102353, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36989957
16.
Individual experiences and issues in predictive genetic testing for untreatable hereditary neuromuscular diseases in Japan.
Eur J Med Genet
; 66(1): 104667, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36410650
17.
Discovery of diphenyl ether-degrading Streptomyces strains by direct screening based on ether bond-cleaving activity.
J Biosci Bioeng
; 135(6): 474-479, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36973095
18.
Electrochemical detection of triamterene in human urine using boron-doped diamond electrodes.
Biosens Bioelectron
; 217: 114666, 2022 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36113298
19.
An economic evaluation of risankizumab versus other biologic treatments of moderate to severe plaque psoriasis in Japan.
J Dermatolog Treat
; 33(1): 229-239, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32178555
20.
Impact of stage 1 hypertension in the first and second trimesters on adverse pregnancy outcomes: The Japan Environment and Children's study (JECS).
Pregnancy Hypertens
; 30: 232-237, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36410284