Detalhe da pesquisa
1.
Mitapivat versus Placebo for Pyruvate Kinase Deficiency.
N Engl J Med
; 386(15): 1432-1442, 2022 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35417638
2.
Erythrocyte transfusions are associated with retinopathy of prematurity in extremely low gestational age newborns.
Acta Paediatr
; 112(12): 2507-2515, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37667535
3.
Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie.
J Clin Immunol
; 40(5): 708-717, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32458183
4.
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Am J Hematol
; 95(5): 472-482, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32043619
5.
Novel variants in FERMT3 and RASGRP2-Genetic linkage in Glanzmann-like bleeding disorders.
Pediatr Blood Cancer
; 67(2): e28078, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31724816
6.
Hereditary spherocytosis is associated with decreased pyruvate kinase activity due to impaired structural integrity of the red blood cell membrane.
Br J Haematol
; 187(3): 386-395, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273765
7.
Bone mineral density in adult patients with pyruvate kinase deficiency on long-term mitapivat treatment.
Haematologica
; 109(3): 963-967, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37731369
8.
Response to the Letter to the Editor "Erythrocyte transfusions and retinopathy of prematurity: Plea for application of the two-phase theory" by Emrani et al., 2023.
Acta Paediatr
; 113(3): 617-618, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129343
9.
Early-onset reduced bone mineral density in patients with pyruvate kinase deficiency.
Am J Hematol
; 98(3): E57-E60, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36594181
10.
Diagnosis of platelet function disorders: A standardized, rational, and modular flow cytometric approach.
Platelets
; 29(4): 347-356, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29227167
11.
A novel two-nucleotide deletion in HPS6 affects mepacrine uptake and platelet dense granule secretion in a family with Hermansky-Pudlak syndrome.
Pediatr Blood Cancer
; 64(5)2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27917594
12.
Early postnatal diagnosis of hereditary spherocytosis by combining light microscopy, acidified glycerol lysis test and eosin-5'-maleimide binding assay.
Ann Hematol
; 94(12): 1959-64, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26336967
13.
Fulminant skin GvHD with a cytokine pattern resemblant of cytokine release syndrome successfully treated with multimodal immunosuppression including tocilizumab.
Pediatr Blood Cancer
; 62(11): 2033-5, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26153219
14.
Diagnosis and management of pyruvate kinase deficiency: international expert guidelines.
Lancet Haematol
; 11(3): e228-e239, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38330977
15.
THROMKIDplus Patient Registry and Biomaterial Banking for Children with Inherited Platelet Disorders.
Hamostaseologie
; 2023 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37918839
16.
IgD shapes the pre-immune naïve B cell compartment in humans.
Front Immunol
; 14: 1096019, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36776874
17.
Ontogenesis of functional platelet subpopulations from preterm and term neonates to adulthood: The PLINIUS study.
Blood Adv
; 7(16): 4334-4348, 2023 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37042931
18.
Indomethacin Prophylaxis Is Associated with Reduced Risk of Intraventricular Hemorrhage in Extremely Preterm Infants Born in the Context of Amniotic Infection Syndrome.
Neonatology
; 120(3): 334-343, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37257433
19.
Virus variant-specific clinical performance of SARS coronavirus two rapid antigen tests in point-of-care use, from November 2020 to January 2022.
Clin Microbiol Infect
; 29(2): 225-232, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36028089
20.
Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37.
Haematologica
; 102(9): e375-e378, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28550182