Detalhe da pesquisa
1.
Relapse of Aplastic Anemia with Majority Donor Chimerism (Donor-Type Aplasia) Occurring Late after Bone Marrow Transplantation.
Biol Blood Marrow Transplant;
26(3): 480-485, 2020 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31733299
2.
Neutropenia in Barth syndrome: characteristics, risks, and management.
Curr Opin Hematol;
26(1): 6-15, 2019 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30451719
3.
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients.
J Inherit Metab Dis;
40(6): 853-860, 2017 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28687938
4.
Clinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK Experience.
Pediatr Cardiol;
37(1): 167-76, 2016 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26337810
5.
Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome.
J Lipid Res;
56(9): 1787-94, 2015 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26144817
6.
Similar outcome of upfront-unrelated and matched sibling stem cell transplantation in idiopathic paediatric aplastic anaemia. A study on behalf of the UK Paediatric BMT Working Party, Paediatric Diseases Working Party and Severe Aplastic Anaemia Working Party of EBMT.
Br J Haematol;
171(4): 585-94, 2015 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26223288
7.
Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.
J Inherit Metab Dis;
38(2): 279-86, 2015 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25112388
8.
Odontoid infiltration and spinal compression in Farber Disease: reversal by haematopoietic stem cell transplantation.
Eur J Pediatr;
173(10): 1399-403, 2014 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23881344
9.
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.
Blood;
117(1): 53-62, 2011 Jan 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-20926771
10.
Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis.
J Inherit Metab Dis;
36(5): 741-6, 2013 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23109063
11.
Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life.
Pediatr Blood Cancer;
60(9): E94-6, 2013 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23625800
12.
Successful mechanical circulatory support for 251 days in a child with intermittent severe neutropenia due to Barth syndrome.
Pediatr Transplant;
17(2): E46-9, 2013 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23190323
13.
Successful cord blood transplantation in a patient with malignant infantile osteopetrosis and hemophilia.
Pediatr Transplant;
17(1): E20-4, 2013 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22913475
14.
The Barth Syndrome Registry: distinguishing disease characteristics and growth data from a longitudinal study.
Am J Med Genet A;
158A(11): 2726-32, 2012 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23045169
15.
Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome).
BMC Pediatr;
12: 48, 2012 May 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22554078
16.
Erratum to: Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype.
J Inherit Metab Dis;
39(1): 151, 2016 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26373950
17.
Challenges in long-term control of hypercalcaemia with denosumab after haematopoietic stem cell transplantation for TNFRSF11A osteoclast-poor autosomal recessive osteopetrosis.
Bone Rep;
14: 100738, 2021 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33364264
18.
Self-regulation in Barth syndrome: a qualitative perspective of adolescents, adults and parents in the U.K.
Orphanet J Rare Dis;
16(1): 404, 2021 09 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34587980
19.
Treatment of Barth Syndrome by Cardiolipin Manipulation (CARDIOMAN) With Bezafibrate: Protocol for a Randomized Placebo-Controlled Pilot Trial Conducted in the Nationally Commissioned Barth Syndrome Service.
JMIR Res Protoc;
10(5): e22533, 2021 May 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34057417
20.
Targeted busulfan-based reduced-intensity conditioning and HLA-matched HSCT cure hemophagocytic lymphohistiocytosis.
Blood Adv;
4(9): 1998-2010, 2020 05 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32384542