Detalhe da pesquisa
1.
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
2.
Comparison of methemoglobin levels in food protein-induced enterocolitis syndrome and other gastrointestinal diseases in neonates.
Allergol Immunopathol (Madr)
; 48(5): 490-495, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32451130
3.
Acute Encephalopathy Caused by Inherited Metabolic Diseases.
J Clin Med
; 12(11)2023 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37297992
4.
Precision dual-comb spectroscopy using wavelength-converted frequency combs with low repetition rates.
Sci Rep
; 13(1): 2549, 2023 Feb 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36781885
5.
Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder.
Sci Rep
; 13(1): 22005, 2023 12 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38086984
6.
Adult-onset Still's disease during pregnancy that delivered a neonate with haemophagocytic lymphohistiocytosis and severe liver failure requiring liver transplantation: A case report and literature review.
Mod Rheumatol Case Rep
; 6(2): 260-265, 2022 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34904166
7.
A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia.
Orphanet J Rare Dis
; 17(1): 78, 2022 02 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35197081
8.
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.
Mitochondrion
; 63: 1-8, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34933128
9.
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.
Arch Dis Child Fetal Neonatal Ed
; 107(3): 329-334, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34625524
10.
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion.
Mol Genet Metab Rep
; 33: 100912, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36061954
11.
Long-term prognosis and genetic background of cardiomyopathy in 223 pediatric mitochondrial disease patients.
Int J Cardiol
; 341: 48-55, 2021 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34298071
12.
Therapeutic effect of N-carbamylglutamate in CPS1 deficiency.
Mol Genet Metab Rep
; 24: 100622, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32670798
13.
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation.
Orphanet J Rare Dis
; 15(1): 169, 2020 07 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32703289
14.
Vigabatrin Therapy for Infantile Spasms in a Case of Cardiofaciocutaneous Syndrome with Cardiac Hypertrophy Developing during Adrenocorticotropic Hormone Treatment.
J Nippon Med Sch
; 83(4): 167-71, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27680485
15.
Complications in Infants of Diabetic Mothers Related to Glycated Albumin and Hemoglobin Levels During Pregnancy.
Pediatr Neonatol
; 57(6): 496-500, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27131880