Detalhe da pesquisa
1.
Current status of transition medicine for 21-hydroxylase deficiency in Japan: from the perspective of pediatric endocrinologists.
Endocr J
; 69(1): 75-83, 2022 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34373418
2.
A 29-year-old patient with adrenoleukodystrophy presenting with Addison's disease.
Endocr J
; 67(6): 655-658, 2020 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-32101828
3.
Clinical characteristics of cytochrome P450 oxidoreductase deficiency: a nationwide survey in Japan.
Endocr J
; 67(8): 853-857, 2020 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32321882
4.
Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency.
Endocr J
; 66(9): 837-842, 2019 Sep 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31178538
5.
Clinical and Immunological Analyses of Ten Patients with MIRAGE Syndrome.
J Clin Immunol
; 41(3): 709-711, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33423168
6.
Criteria for radiologic diagnosis of hypochondroplasia in neonates.
Pediatr Radiol
; 46(4): 513-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26867606
7.
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.
Clin Endocrinol (Oxf)
; 80(5): 706-13, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24313804
8.
Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia.
J Clin Endocrinol Metab
; 109(3): 641-648, 2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37878959
9.
Comment on: Acquired monosomy 7 myelodysplastic syndrome in a child with clinical features of dyskeratosis congenita and IMAGe association.
Pediatr Blood Cancer
; 65(1)2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28834235
10.
Fibroblast growth factor 23 levels in cord and peripheral blood during early neonatal period as possible predictors of affected offspring of X-linked hypophosphatemic rickets: report of three female cases from two pedigrees.
J Pediatr Endocrinol Metab
; 36(8): 786-790, 2023 Aug 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-37342899
11.
Growth Hormone Injection Log Analysis with Electronic Injection Device for Qualifying Adherence to Low-Irritant Formulation and Exploring Influential Factors on Adherence.
Patient Prefer Adherence
; 17: 1885-1894, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37545653
12.
Incidence and Risk Factors for Adrenal Crisis in Pediatric-onset Adrenal Insufficiency: A Prospective Study.
J Clin Endocrinol Metab
; 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38128002
13.
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
14.
A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.
J Inherit Metab Dis
; 33 Suppl 3: S307-13, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20652411
15.
A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux.
Clin Pediatr Endocrinol
; 29(3): 99-103, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32694885
16.
Role of NPR2 mutation in idiopathic short stature: Identification of two novel mutations.
Mol Genet Genomic Med
; 8(3): e1146, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31960617
17.
Response to Letter to the Editor from Janot et al: « Single-Exon Deletions of ZNRF3 Exon 2 cause Congenital Adrenal Hypoplasia ¼.
J Clin Endocrinol Metab
; 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38591244
18.
Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review.
J Endocr Soc
; 3(7): 1367-1374, 2019 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31286101
19.
Pubertal Development and Pregnancy Outcomes in 46,XX Patients With Nonclassic Lipoid Congenital Adrenal Hyperplasia.
J Clin Endocrinol Metab
; 104(5): 1866-1870, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476142
20.
Rapid Growth and Early Metastasis of Papillary Thyroid Carcinoma in an Adolescent Girl with Graves' Disease.
Horm Res Paediatr
; 91(3): 210-215, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30092570