Detalhe da pesquisa
1.
Clinical performance of a novel chemiluminescent enzyme immunoassay for FGF23.
J Bone Miner Metab
; 39(6): 1066-1075, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34255195
2.
Pyridoxal 5'-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy.
Mol Genet Metab
; 125(1-2): 174-180, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30049651
3.
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
4.
[Rickets/Osteomalacia. Vitamin D dependency.]
Clin Calcium
; 28(10): 1343-1349, 2018.
Artigo
em Japonês
| MEDLINE | ID: mdl-30269116
5.
Spectrum of LMX1B mutations: from nail-patella syndrome to isolated nephropathy.
Pediatr Nephrol
; 32(10): 1845-1850, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27450397
6.
Steroid-resistant nephrotic syndrome as the initial presentation of nail-patella syndrome: a case of a de novo LMX1B mutation.
BMC Nephrol
; 18(1): 100, 2017 03 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28335748
7.
Partial monosomy of 10p and duplication of another chromosome in two patients.
Pediatr Int
; 59(1): 99-102, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28102624
8.
[Vitamin D dependency and its treatment].
Clin Calcium
; 26(2): 277-83, 2016 Feb.
Artigo
em Japonês
| MEDLINE | ID: mdl-26813508
9.
Mineral status of premature infants in early life and linear growth at age 3.
Pediatr Int
; 57(5): 864-9, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25865080
10.
Validity of a self-administered diet history questionnaire for estimating vitamin D intakes of Japanese pregnant women.
Matern Child Nutr
; 11(4): 525-36, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24118748
11.
[Kenny-Caffey syndrome and its related syndromes].
Nihon Rinsho
; 73(11): 1959-64, 2015 Nov.
Artigo
em Japonês
| MEDLINE | ID: mdl-26619675
12.
LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy.
Nephrol Dial Transplant
; 29(1): 81-8, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24042019
13.
Familial dysalbuminemic hyperthyroxinemia in a 12-year-old girl.
Pediatr Int
; 61(5): 520-522, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31087584
14.
A novel pathogenic variant in fibroblast growth factor 23 outside the furin-recognizing RXXR motif in an autosomal dominant hypophosphatemic rickets patient.
Horm Res Paediatr
; 2024 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38493780
15.
MLL2 and KDM6A mutations in patients with Kabuki syndrome.
Am J Med Genet A
; 161A(9): 2234-43, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23913813
16.
Cephalhematoma and petechial rashes associated with acute parvovirus B19 infection: a case report.
BMC Infect Dis
; 13: 465, 2013 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24093148
17.
[Updates on rickets and osteomalacia: vitamin D dependency].
Clin Calcium
; 23(10): 1437-43, 2013 Oct.
Artigo
em Japonês
| MEDLINE | ID: mdl-24076641
18.
Association of vitamin D-related gene polymorphisms with manifestation of vitamin D deficiency in children.
Endocr J
; 59(11): 1007-14, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22785457
19.
Growth hormone deficiency: a possible complication of glucose transporter 1 deficiency?
Acta Paediatr
; 101(6): e259-62, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22251140
20.
The Boy:Girl Ratio of Children Diagnosed with Growth Hormone Deficiency-Induced Short Stature Is Associated with the Boy:Girl Ratio of Children Visiting Short Stature Clinics.
Horm Res Paediatr
; 94(5-6): 211-218, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34425577