Detalhe da pesquisa
1.
Living donor liver transplantation for myocerebrohepatopathy spectrum due to POLG mutations.
Pediatr Transplant
; 28(1): e14659, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38012111
2.
Recurrent tandem duplication of UNC13D in familial hemophagocytic lymphohistiocytosis type 3.
Clin Immunol
; 242: 109104, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36041693
3.
Rapid Flow Cytometry-Based Assay for the Functional Classification of MEFV Variants.
J Clin Immunol
; 41(6): 1187-1197, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33733382
4.
Immunophenotyping of A20 haploinsufficiency by multicolor flow cytometry.
Clin Immunol
; 216: 108441, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32335289
5.
Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis.
Blood
; 131(18): 2016-2025, 2018 05 03.
Artigo
Inglês
| MEDLINE | ID: mdl-29549174
6.
Successful cord blood transplantation using reduced intensity conditioning in a 5-month-old patient with IL-10RA deficiency.
Pediatr Blood Cancer
; : e31056, 2024 May 09.
Artigo
Inglês
| MEDLINE | ID: mdl-38721857
7.
Characterization of a large UNC13D gene duplication in a patient with familial hemophagocytic lymphohistiocytosis type 3.
Clin Immunol
; 191: 63-66, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29596912
8.
Anti-Integrin αvß6 Antibody as a Diagnostic Marker for Pediatric Patients With Ulcerative Colitis.
Gastroenterology
; 163(4): 1094-1097.e14, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35709831
9.
Alemtuzumab-based reduced-intensity conditioning for XIAP deficiency.
Pediatr Int
; 65(1): e15576, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37534620
10.
A CD57+ CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients.
J Clin Immunol
; 37(1): 92-99, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27896523
11.
Diagnostic accuracy of endoscopic features of pediatric acute gastrointestinal graft-versus-host disease.
Dig Endosc
; 28(5): 548-55, 2016 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-26773564
12.
Laboratory parameters identify familial haemophagocytic lymphohistiocytosis from other forms of paediatric haemophagocytosis.
Br J Haematol
; 170(4): 532-8, 2015 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-25921443
13.
Acute lymphoblastic leukemia in a girl with Wilson's disease.
Pediatr Int
; 56(4): 626-9, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-25252055
14.
Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders.
J Allergy Clin Immunol
; 141(4): 1485-1488.e11, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29241730
15.
Sustained high plasma mannose less sensitive to fluctuating blood glucose in glycogen storage disease type Ia children.
J Inherit Metab Dis
; 36(1): 75-81, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22971957
16.
[Utility of endoscopic ultrasound-guided fine needle aspiration for diagnosis of Burkitt lymphoma in two pediatric cases].
Rinsho Ketsueki
; 54(7): 653-7, 2013 Jul.
Artigo
Japonês
| MEDLINE | ID: mdl-23912349
17.
Clinical outcome of ulcerative colitis with severe onset in children: a multicenter prospective cohort study.
J Gastroenterol
; 58(5): 472-480, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36884071
18.
Fatty liver and anti-oxidant enzyme activities along with peroxisome proliferator-activated receptors γ and α expressions in the liver of Wilson's disease.
Mol Genet Metab
; 107(3): 542-7, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22940187
19.
Acute liver failure in young children with systemic-onset juvenile idiopathic arthritis without macrophage activation syndrome: report of two cases.
J Paediatr Child Health
; 48(3): E122-5, 2012 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-22050445
20.
Case Report: A Pediatric Case of Familial Mediterranean Fever Concurrent With Autoimmune Hepatitis.
Front Immunol
; 13: 917398, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35812376