Detalhe da pesquisa
1.
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
2.
Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial.
Clin Endocrinol (Oxf)
; 87(1): 10-19, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28374482
3.
Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders.
Ann Neurol
; 78(5): 814-23, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26463265
4.
Effect of bezafibrate treatment on late-onset mitochondrial myopathy in mice.
Hum Mol Genet
; 21(3): 526-35, 2012 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22012983
5.
Molecular pathology of MELAS and L-arginine effects.
Biochim Biophys Acta
; 1820(5): 608-14, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21944974
6.
MELAS: a nationwide prospective cohort study of 96 patients in Japan.
Biochim Biophys Acta
; 1820(5): 619-24, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21443929
7.
Selenium deficiency and scurvy due to an imbalanced diet of snacks and lacto-fermenting drinks: a case report of a 7-year-old boy with autism spectrum disorder.
BMC Nutr
; 9(1): 41, 2023 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36890584
8.
A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay.
HGG Adv
; 4(1): 100148, 2023 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36299998
9.
Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2-q14.
Clin Case Rep
; 10(11): e6545, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36381038
10.
Urinary stone in a 12-year-old adolescent with new-onset type 1 diabetes and diabetic ketoacidosis.
Clin Pediatr Endocrinol
; 31(3): 199-204, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35928383
11.
Estimated Gestational Age From Infant's Foot Length in Japanese.
Cureus
; 14(12): e32991, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36712774
12.
An exploratory study to identify neonatal arterial ischemic stroke: A single-center study.
Brain Dev
; 44(10): 672-680, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36058756
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.
Increased Serum-Immunoglobulin G4 Levels in a 12-Year-Old Male Patient With Central Diabetes Insipidus.
Cureus
; 13(8): e17362, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34567902
15.
Caffeine Intoxication Due to Antipyretic Analgesic Overdose in an Adolescent.
Cureus
; 13(9): e17922, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34660114
16.
Temporal changes and control variables of growth differentiation factor 15 levels during the first week of life in hospitalised newborn infants.
Mitochondrion
; 61: 25-30, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34508892
17.
Severe Hypernatremia in Combined Diabetic Ketoacidosis and Hyperglycemic Hyperosmolar State: A Case Report of Two Japanese Children.
Cureus
; 12(8): e9672, 2020 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32923267
18.
Growth differentiation factor 15 as a useful biomarker of heart failure in young patients with unrepaired congenital heart disease of left to right shunt.
J Cardiol
; 75(6): 697-701, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31883956
19.
Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function Studies.
J Clin Endocrinol Metab
; 105(11)2020 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32841355
20.
A case of combined 21-hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism.
Mol Genet Genomic Med
; 7(6): e730, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31060112