Detalhe da pesquisa
1.
Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.
Int J Mol Sci
; 21(7)2020 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32235485
2.
Novel Case of Tripeptidyl Peptidase 2 Deficiency Associated with Mild Clinical Phenotype.
J Clin Immunol
; 41(5): 1123-1127, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33682069
3.
Three-year follow up of using combination therapy with fresh-frozen plasma and iron chelation in a patient with acaeruloplasminemia.
JIMD Rep
; 57(1): 23-28, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33473336
4.
Routine management, healthcare resource use and patient and carer-reported outcomes of patients with transfusion-dependent ß-thalassaemia in the United Kingdom: A mixed methods observational study.
EJHaem
; 2(4): 738-749, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-35845207