Detalhe da pesquisa
1.
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
2.
Immunophenotyping of A20 haploinsufficiency by multicolor flow cytometry.
Clin Immunol
; 216: 108441, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32335289
3.
Correction to: the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of Translation.
J Clin Immunol
; 40(4): 646, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32367426
4.
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
5.
Newborn screening of mucopolysaccharidoses: past, present, and future.
J Hum Genet
; 65(7): 557-567, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32277174
6.
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
7.
Identification of Homozygous Somatic DICER1 Mutation in Pleuropulmonary Blastoma.
J Pediatr Hematol Oncol
; 42(4): 307-309, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30585947
8.
Proinflammatory Cytokine Secretion in a Patient With Recurrent Neuroblastoma Related to the Onset of Malignancy-associated Hemophagocytic Lymphohistiocytosis.
J Pediatr Hematol Oncol
; 42(4): e199-e201, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31651727
9.
Immunologic Effects of Sirolimus in Patients With Vascular Anomalies.
J Pediatr Hematol Oncol
; 42(5): e355-e360, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31743321
10.
Analysis of mTOR pathway expression in lymphatic malformation and related diseases.
Pathol Int
; 70(6): 323-329, 2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32067331
11.
The peroxisomal zebrafish SCP2-thiolase (type-1) is a weak transient dimer as revealed by crystal structures and native mass spectrometry.
Biochem J
; 476(2): 307-332, 2019 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-30573650
12.
Respiratory illness and acute flaccid myelitis in the Tokai district in 2018.
Pediatr Int
; 62(3): 337-340, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31886594
13.
Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses.
Int J Mol Sci
; 21(6)2020 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32188102
14.
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Hum Mutat
; 40(10): 1641-1663, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31268215
15.
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
16.
Critical review of current MPS guidelines and management.
Mol Genet Metab
; 126(3): 238-245, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30143438
17.
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
18.
Potential biomarkers of kaposiform lymphangiomatosis.
Pediatr Blood Cancer
; 66(9): e27878, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31207041
19.
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
20.
Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing.
Genet Med
; 20(5): 486-494, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28817111