Detalhe da pesquisa
1.
Pituitary apoplexy after cardiac surgery in a 14-year-old girl with Carney complex: a case report.
Endocr J
; 66(12): 1117-1123, 2019 Dec 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31484850
2.
Non-invasive discrimination of acute focal bacterial nephritis with pyelonephritis.
Pediatr Int
; 61(8): 777-780, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31410918
3.
Sufficient increment of sulfonylurea without reintroduction of insulin ameliorates pubertal deterioration of glycaemic control in KCNJ11 neonatal diabetes treated with long-term sulfonylurea.
Diabetologia
; 63(8): 1659-1661, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32448915
4.
Severe gastrointestinal involvement predictive score in IgA vasculitis is also a risk factor for nephritis being varied depending on their ages of onset.
J Paediatr Child Health
; 55(5): 609-610, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31017368
5.
Glycemic control and motor development in a patient with intermediate DEND.
Pediatr Int
; 56(3): 432-5, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24894933
6.
Identification of a novel mutation in the exon 2 splice donor site of the POU1F1/PIT-1 gene in Japanese identical twins with mild combined pituitary hormone deficiency.
Clin Endocrinol (Oxf)
; 76(1): 78-87, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21722153
7.
HLA-class II and class I genotypes among Japanese children with Type 1A diabetes and their families.
Pediatr Diabetes
; 13(1): 33-44, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22128760
8.
Early Diagnosis of Wolfram Syndrome by Ophthalmologic Screening in a Patient with Type 1B Diabetes Mellitus: A Case Report.
J Clin Res Pediatr Endocrinol
; 2022 Aug 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35983751
9.
Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision).
Clin Pediatr Endocrinol
; 31(3): 116-143, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35928387
10.
A mutation of the ß-domain in POU1F1 causes pituitary deficiency due to dominant PIT-1ß expression.
Eur J Endocrinol
; 185(1): 1-12, 2021 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33886498
11.
Patient reports: Two novel frameshift mutations in the SOX9 gene in two patients with campomelic dysplasia who showed long-term survival.
J Pediatr Endocrinol Metab
; 23(11): 1189-93, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21284335
12.
Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism.
J Physiol Sci
; 70(1): 33, 2020 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32646367
13.
Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited.
J Clin Endocrinol Metab
; 105(11)2020 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32835366
14.
A 34-year-old Japanese patient exhibiting NBAS deficiency with a novel mutation and extended phenotypic variation.
Eur J Med Genet
; 63(11): 104039, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32805445
15.
Increased diagnosis of autoimmune childhood-onset Japanese type 1 diabetes using a new glutamic acid decarboxylase antibody enzyme-linked immunosorbent assay kit, compared with a previously used glutamic acid decarboxylase antibody radioimmunoassay kit.
J Diabetes Investig
; 11(3): 594-602, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31756289
16.
Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing.
J Hum Genet
; 54(8): 493-6, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19609281
17.
Prevalence and risk factors of vitamin D deficiency rickets in Hokkaido, Japan.
Pediatr Int
; 51(4): 559-62, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19419526
18.
Molecular basis of neonatal diabetes in Japanese patients.
J Clin Endocrinol Metab
; 92(10): 3979-85, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17635943
19.
Serial sonographic findings during progression from acute pyelonephritis to renal abscess: a rare case report.
CEN Case Rep
; 6(1): 18-21, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28509119
20.
High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism.
J Pediatr Endocrinol Metab
; 29(7): 807-12, 2016 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27166716