Detalhe da pesquisa
1.
Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC.
J Clin Immunol
; 44(1): 18, 2023 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129603
2.
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
J Immunol
; 207(1): 133-152, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183371
3.
Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-19.
J Clin Immunol
; 42(7): 1360-1370, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35764767
4.
Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
J Clin Immunol
; 41(4): 780-790, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33501615
5.
A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months.
Int J Mol Sci
; 21(3)2020 Feb 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32024277
6.
Correction to: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
J Clin Immunol
; 41(4): 791-794, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33694042
7.
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.
Int J Neonatal Screen
; 10(1)2024 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38390979
8.
Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity.
Int J Neonatal Screen
; 9(4)2023 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37987475
9.
Janus kinase inhibitors ameliorate clinical symptoms in patients with STAT3 gain-of-function.
Immunother Adv
; 3(1): ltad027, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38549698
10.
A complementary approach for genetic diagnosis of inborn errors of immunity using proteogenomic analysis.
PNAS Nexus
; 2(4): pgad104, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37077884
11.
Isolated chronic mucocutaneous candidiasis due to a novel duplication variant of IL17RC.
Res Sq
; 2023 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37577484
12.
Neutralizing Type I Interferon Autoantibodies in Japanese Patients With Severe COVID-19.
Res Sq
; 2022 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35291303
13.
Current Perspectives on Neonatal Screening for Propionic Acidemia in Japan: An Unexpectedly High Incidence of Patients with Mild Disease Caused by a Common PCCB Variant.
Int J Neonatal Screen
; 7(3)2021 Jun 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34203287
14.
Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation.
Int J Neonatal Screen
; 7(3)2021 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34287232