Detalhe da pesquisa
1.
Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.
J Inherit Metab Dis
; 45(3): 431-444, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35142380
2.
The earliest enzyme replacement for infantile-onset Pompe disease in Japan.
Pediatr Int
; 64(1): e15286, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36074069
3.
Growth impairment in individuals with citrin deficiency.
J Inherit Metab Dis
; 42(3): 501-508, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30715743
4.
A preterm newborn-onset juvenile myelomonocytic leukemia-like myeloproliferation with PTPN11 mutation.
Pediatr Blood Cancer
; 70(2): e29915, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35997526
5.
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
6.
Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan.
Am J Med Genet A
; 173(2): 360-367, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28102591
7.
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.
J Hum Genet
; 61(5): 451-5, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26763878
8.
Rapid and long-lasting efficacy of high-dose ambroxol therapy for neuronopathic Gaucher disease: A case report and literature review.
Mol Genet Genomic Med
; 12(4): e2427, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38553911
9.
Hyperinsulinemic hypoglycemia of infancy in Sotos syndrome.
Am J Med Genet A
; 161A(1): 34-7, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23239432
10.
Case Report: Juvenile Myelomonocytic Leukemia Underlying Ornithine Transcarbamylase Deficiency Safely Treated Using Hematopoietic Stem Cell Transplantation.
Front Pediatr
; 10: 898531, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35601422
11.
The signal transducer and activator of transcription 5B gene polymorphism contributes to the cholesterol metabolism in Japanese children with growth hormone deficiency.
Clin Endocrinol (Oxf)
; 74(5): 611-7, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21470284
12.
Biotin deficiency in a glycogen storage disease type 1b girl fed only with glycogen storage disease-related formula.
Pediatr Dermatol
; 28(3): 339-41, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21371115
13.
Current status of newborn screening for Pompe disease in Japan.
Orphanet J Rare Dis
; 16(1): 516, 2021 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34922579
14.
Physical, cognitive, and social status of patients with urea cycle disorders in Japan.
Mol Genet Metab Rep
; 27: 100724, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-33614409
15.
Malignant transformation of phosphaturic mesenchymal tumor: a case report and literature review.
Clin Pediatr Endocrinol
; 29(2): 69-75, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32313375
16.
Ultrasound appearance of thyroid tissue in hypothyroid infants.
J Pediatr
; 153(1): 101-4, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18571545
17.
Model mice for mild-form glycine encephalopathy: behavioral and biochemical characterizations and efficacy of antagonists for the glycine binding site of N-methyl D-aspartate receptor.
Pediatr Res
; 64(3): 228-33, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18414141
18.
Hypospadias in a male patient with 21-hydroxylase deficiency.
Endocr J
; 55(6): 1051-4, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18719294
19.
Thyroid Follicular Carcinoma in a Fourteen-year-old Girl with Graves' Disease.
Clin Pediatr Endocrinol
; 23(2): 59-64, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24790388
20.
Coagulopathy in patients with late-onset ornithine transcarbamylase deficiency in remission state: a previously unrecognized complication.
Pediatrics
; 131(1): e327-30, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23209112