Found: 19
Select item for more details and to access through your institution.
Preserving Ambulation in a Gene Therapy-Treated Girl Affected by Metachromatic Leukodystrophy: A Case Report.
- Published in:
- Journal of Personalized Medicine, 2023, v. 13, n. 4, p. 637, doi. 10.3390/jpm13040637
- By:
- Publication type:
- Article
Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency.
- Published in:
- Frontiers in Immunology, 2022, v. 13, p. 01, doi. 10.3389/fimmu.2022.910021
- By:
- Publication type:
- Article
Wiskott–Aldrich syndrome: Oral findings and microbiota in children and review of the literature.
- Published in:
- Clinical & Experimental Dental Research, 2022, v. 8, n. 1, p. 28, doi. 10.1002/cre2.503
- By:
- Publication type:
- Article
The Alteration of Lipid Metabolism in Burkitt Lymphoma Identifies a Novel Marker: Adipophilin.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0044315
- By:
- Publication type:
- Article
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03075-3
- By:
- Publication type:
- Article
Clonality Analysis of Immunoglobulin Gene Rearrangement by Next-Generation Sequencing in Endemic Burkitt Lymphoma Suggests Antigen Drive Activation of BCR as Opposed to Sporadic Burkitt Lymphoma.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Hemophagocytic inflammatory syndrome in ADA-SCID: report of two cases and literature review.
- Published in:
- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1187959
- By:
- Publication type:
- Article
Echocardiographic Screening for Rheumatic Heart Disease in a Ugandan Orphanage: Feasibility and Outcomes.
- Published in:
- Children, 2022, v. 9, n. 10, p. 1451, doi. 10.3390/children9101451
- By:
- Publication type:
- Article
Unexpected Huge Prevalence of Intracardiac Extension of Wilms Tumor—A Single Center Experience from a Ugandan Hospital.
- Published in:
- Children, 2022, v. 9, n. 5, p. 743, doi. 10.3390/children9050743
- By:
- Publication type:
- Article
A Case of William’s Syndrome in a Ugandan Child: A Feasible Diagnosis Even in a Low-Resource Setting.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Mild SARS-CoV-2 Infection After Gene Therapy in a Child With Wiskott-Aldrich Syndrome: A Case Report.
- Published in:
- Frontiers in Immunology, 2020, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.603428
- By:
- Publication type:
- Article
A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease.
- Published in:
- Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1742, doi. 10.1007/s10875-022-01338-x
- By:
- Publication type:
- Article
A Case of Two Adult Brothers with Wiskott-Aldrich Syndrome, One Treated with Gene Therapy and One with HLA-Identical Hematopoietic Stem Cell Transplantation.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Distinct Viral and Mutational Spectrum of Endemic Burkitt Lymphoma.
- Published in:
- PLoS Pathogens, 2015, v. 11, n. 10, p. 1, doi. 10.1371/journal.ppat.1005158
- By:
- Publication type:
- Article
Metachromatic leukodystrophy: A single‐center longitudinal study of 45 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 5, p. 1151, doi. 10.1002/jimd.12388
- By:
- Publication type:
- Article
Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 543, doi. 10.1007/s10545-017-0052-4
- By:
- Publication type:
- Article
Outcome of BCG Vaccination in ADA-SCID Patients: A 12-Patient Series.
- Published in:
- Biomedicines, 2023, v. 11, n. 7, p. 1809, doi. 10.3390/biomedicines11071809
- By:
- Publication type:
- Article
Lymphomas in sub-Saharan Africa - what can we learn and how can we help in improving diagnosis, managing patients and fostering translational research?
- Published in:
- British Journal of Haematology, 2011, v. 154, n. 6, p. 696, doi. 10.1111/j.1365-2141.2011.08772.x
- By:
- Publication type:
- Article
Diagnosis of Burkitt lymphoma using an algorithmic approach - applicable in both resource-poor and resource-rich countries.
- Published in:
- British Journal of Haematology, 2011, v. 154, n. 6, p. 770, doi. 10.1111/j.1365-2141.2011.08771.x
- By:
- Publication type:
- Article