Detalhe da pesquisa
1.
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.
Nucleic Acids Res
; 52(1): 114-124, 2024 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38015437
2.
Novel ITPA variants identified by whole genome sequencing and RNA sequencing.
J Hum Genet
; 68(9): 649-652, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37246162
3.
A Case of Multifocal Lymphangioendotheliomatosis With Thrombocytopenia and Changes in Coagulopathy.
J Pediatr Hematol Oncol
; 45(3): e384-e388, 2023 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36730448
4.
The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening.
Mol Genet Metab
; 136(1): 74-79, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35400565
5.
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
6.
In vitro functional analysis of four variants of human asparagine synthetase.
J Inherit Metab Dis
; 44(5): 1226-1234, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34080208
7.
Endoscopic third ventriculostomy for hydrocephalus in a patient with achondroplasia: a case report and literature review.
Childs Nerv Syst
; 37(12): 3907-3911, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33779806
8.
Correction: Biallelic GALM pathogenic variants cause a novel type of galactosemia.
Genet Med
; 22(7): 1281, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499603
9.
Deficiency of 3-hydroxybutyrate dehydrogenase (BDH1) in mice causes low ketone body levels and fatty liver during fasting.
J Inherit Metab Dis
; 43(5): 960-968, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32279332
10.
Biallelic GALM pathogenic variants cause a novel type of galactosemia.
Genet Med
; 21(6): 1286-1294, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30451973
11.
Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.
J Hum Genet
; 64(2): 99-111, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30393371
12.
Primary carnitine deficiency with severe acute hepatitis following rotavirus gastroenteritis.
J Infect Chemother
; 25(11): 913-916, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31189503
13.
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Mol Genet Metab
; 122(3): 67-75, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28801073
14.
Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis.
J Inherit Metab Dis
; 40(6): 845-852, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28695376
15.
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam.
J Inherit Metab Dis
; 40(3): 395-401, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28220263
16.
Long QT as a first sign for propionic acidemia in a 10-year-old girl.
Pediatr Int
; 64(1): e14752, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34747083
17.
Propranolol for infantile hemangiomas with hyperinsulinemic hypoglycemia.
Pediatr Int
; 63(6): 724-725, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34042227
18.
Effectiveness of Medium-Chain Triglyceride Oil Therapy in Two Japanese Citrin-Deficient Siblings: Evaluation Using Oral Glucose Tolerance Tests.
Tohoku J Exp Med
; 240(4): 323-328, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28003588
19.
Neonatal bacteremia caused by emm type 80 group A Streptococcus: A case report.
Pediatr Int
; 62(11): 1305-1306, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33145863
20.
Successive MRI Findings of Reversible Cerebral White Matter Lesions in a Patient with Cystathionine ß-Synthase Deficiency.
Tohoku J Exp Med
; 237(4): 323-7, 2015 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26639091