Detalhe da pesquisa
1.
A pH imbalance is linked to autophagic dysregulation of inner ear hair cells in Atp6v1ba-deficient zebrafish.
Biochem Biophys Res Commun
; 699: 149551, 2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38277730
2.
Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model.
J Hum Genet
; 69(3-4): 133-138, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38316882
3.
Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites.
Mol Genet Metab
; 140(1-2): 107703, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37802748
4.
Acute myeloid leukemia associated with CHARGE syndrome.
Am J Med Genet A
; 191(3): 878-881, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36543163
5.
Multifaceted support for quality of life in childhood cancer survivors: Questionnaire survey.
Pediatr Int
; 65(1): e15706, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38088502
6.
Celiac Disease Genetics, Pathogenesis, and Standard Therapy for Japanese Patients.
Int J Mol Sci
; 24(3)2023 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768398
7.
Stability of amino acids, free and acyl-carnitine in stored dried blood spots.
Pediatr Int
; 64(1): e15072, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34817917
8.
Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan.
Pediatr Int
; 64(1): e15120, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616152
9.
Sensorineural Hearing Loss in Sjögren's Syndrome.
Int J Mol Sci
; 23(19)2022 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36232483
10.
Psoriasis with short stature improved by adalimumab.
Pediatr Dermatol
; 38(5): 1379-1381, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34514629
11.
Tyrosine pre-transfer RNA fragments are linked to p53-dependent neuronal cell death via PKM2.
Biochem Biophys Res Commun
; 525(3): 726-732, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32143824
12.
Gastric Carcinoma as Second Malignant Neoplasm in a Survivor From High-risk Neuroblastoma.
J Pediatr Hematol Oncol
; 42(2): 160-162, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30688828
13.
Early Recovery of Height Velocity in Prepubertal Children With Acute Lymphoblastic Leukemia Treated by a Short Intensive Phase Without Cranial Radiation Therapy.
J Pediatr Hematol Oncol
; 42(4): 271-274, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31842181
14.
Pediatric procedural sedation in Japan: A single-facility study of 1,436 cases.
Pediatr Int
; 62(12): 1346-1350, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32501599
15.
Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood.
Endocr J
; 66(3): 215-221, 2019 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30674755
16.
Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin-requiring antibody-negative type 1 diabetes.
Pediatr Diabetes
; 19(2): 243-250, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28597946
17.
Pancreatoblastoma with a novel fusion gene of IQSEC1-RAF1.
Pediatr Blood Cancer
; 70(4): e30155, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36519595
18.
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
19.
Incidence rate and characteristics of symptomatic vitamin D deficiency in children: a nationwide survey in Japan.
Endocr J
; 65(6): 593-599, 2018 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29526992
20.
Unique cell tropism of HHV-6B in an infantile autopsy case of primary HHV-6B encephalitis.
Neuropathology
; 2018 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29582466