Detalhe da pesquisa
1.
Effects of 6-O-α-maltosyl-ß cyclodextrin on lipid metabolism in Npc1-deficient Chinese hamster ovary cells.
Mol Genet Metab
; 137(3): 239-248, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36182715
2.
Smart Gene™ as an effective non-invasive point-of-care test to detect Helicobacter pylori clarithromycin-resistant mutation.
J Gastroenterol Hepatol
; 37(9): 1719-1725, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35562319
3.
Developmental disorders in school children are related to allergic diseases.
Pediatr Int
; 64(1): e15358, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36564216
4.
Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan.
Pediatr Int
; 64(1): e15120, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616152
5.
Clinical Evaluation of a Novel Point-of-Care Assay To Detect Mycoplasma pneumoniae and Associated Macrolide-Resistant Mutations.
J Clin Microbiol
; 59(7): e0324520, 2021 06 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33910960
6.
Gastrointestinal adverse reactions reduce the success rate of Helicobacter pylori eradication therapy: A multicenter prospective cohort study.
Helicobacter
; 26(2): e12776, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368891
7.
Intracerebroventricular Treatment with 2-Hydroxypropyl-ß-Cyclodextrin Decreased Cerebellar and Hepatic Glycoprotein Nonmetastatic Melanoma Protein B (GPNMB) Expression in Niemann-Pick Disease Type C Model Mice.
Int J Mol Sci
; 22(1)2021 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33466390
8.
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders.
Hum Mol Genet
; 27(8): 1421-1433, 2018 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29432562
9.
Effect of probiotics during vonoprazan-containing triple therapy on gut microbiota in Helicobacter pylori infection: A randomized controlled trial.
Helicobacter
; 25(3): e12690, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32207209
10.
Assessment of a novel method to detect clarithromycin-resistant Helicobacter pylori using a stool antigen test reagent.
BMC Gastroenterol
; 20(1): 397, 2020 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33228552
11.
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
J Med Genet
; 56(6): 396-407, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842224
12.
Case-Control Study of Rotavirus Vaccine Effectiveness Compared to Test-Negative Controls or Hospital Controls.
J Epidemiol
; 29(8): 282-287, 2019 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30344199
13.
In Vitro and In Vivo Evaluation of 6-O-α-Maltosyl-ß-Cyclodextrin as a Potential Therapeutic Agent Against Niemann-Pick Disease Type C.
Int J Mol Sci
; 20(5)2019 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30845767
14.
Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11.
Hum Mol Genet
; 25(7): 1406-19, 2016 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26908620
15.
Neurological comorbidity in children with neurofibromatosis type 1.
Pediatr Int
; 60(1): 70-75, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28796925
16.
The clinical characteristics of Asian patients with classical-type Hutchinson-Gilford progeria syndrome.
J Hum Genet
; 62(12): 1031-1035, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28878338
17.
Nasal hemophilic pseudotumor in a patient with mild hemophilia A and allergic rhinitis.
Pediatr Int
; 59(2): 237-239, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28211222
18.
In vitro evaluation of 2-hydroxyalkylated ß-cyclodextrins as potential therapeutic agents for Niemann-Pick Type C disease.
Mol Genet Metab
; 118(3): 214-219, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27184436
19.
HPGCD outperforms HPBCD as a potential treatment for Niemann-Pick disease type C during disease modeling with iPS cells.
Stem Cells
; 33(4): 1075-88, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25522247
20.
De novo GABRA1 mutations in Ohtahara and West syndromes.
Epilepsia
; 57(4): 566-73, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26918889