Detalhe da pesquisa
1.
Urogenital Abnormalities in Adenosine Deaminase Deficiency.
J Clin Immunol
; 40(4): 610-618, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32307643
2.
Anthropometric characteristics of newborns with Prader-Willi syndrome.
Am J Med Genet A
; 179(10): 2067-2074, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31361394
3.
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.
Blood
; 128(1): 45-54, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27129325
4.
Endocrine features of Prader-Willi syndrome: a narrative review focusing on genotype-phenotype correlation.
Front Endocrinol (Lausanne)
; 15: 1382583, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38737552
5.
Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency.
Nat Med
; 30(2): 488-497, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355973
6.
Increased IGFBP proteolysis, IGF-I bioavailability and pappalysin levels in children with Prader-Willi syndrome.
J Clin Endocrinol Metab
; 2023 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141219
7.
Guided Growth in Leg Length Discrepancy in Beckwith-Wiedemann Syndrome: A Consecutive Case Series.
Children (Basel)
; 8(12)2021 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34943348
8.
Uniparental disomy and pretreatment IGF-1 may predict elevated IGF-1 levels in Prader-Willi patients on GH treatment.
Growth Horm IGF Res
; 48-49: 9-15, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31487604
9.
Lentiviral haemopoietic stem/progenitor cell gene therapy for treatment of Wiskott-Aldrich syndrome: interim results of a non-randomised, open-label, phase 1/2 clinical study.
Lancet Haematol
; 6(5): e239-e253, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30981783
10.
First Occurrence of Plasmablastic Lymphoma in Adenosine Deaminase-Deficient Severe Combined Immunodeficiency Disease Patient and Review of the Literature.
Front Immunol
; 9: 113, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29456531
11.
Ictal central sleep-related apnoea in Prader-Willi syndrome
Epileptic Disord
; 24(5): 957-960, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35811433
12.
Prolonged asymptomatic SARS-CoV-2 infection in a child receiving immunosuppressive therapy.
Pediatr Pulmonol
; 55(10): 2504-2505, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32735761
13.
In vivo tracking of T cells in humans unveils decade-long survival and activity of genetically modified T memory stem cells.
Sci Transl Med
; 7(273): 273ra13, 2015 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25653219