1,076 results on '"Hershfield, Michael"'
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2. Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation
3. Normal IgH Repertoire Diversity in an Infant with ADA Deficiency After Gene Therapy
4. Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency
5. Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2
6. Long-Term Immune Reconstitution in ADA-Deficient Patients Treated With Elapegademase: A Real-World Experience
7. Gout, Hyperuricaemia and Crystal-Associated Disease Network (G-CAN) consensus statement regarding labels and definitions of disease states of gout
8. 128 Increased dosage of elapegademase-lvlr improved metabolic and immunologic function in a patient with late-onset adenosine deaminase deficiency and neutralizing anti-drug antibodies
9. 20 Multi-Year Registry Study of Elapegademase-lvlr Treatment in Patients with Adenosine Deaminase Severe Combined Immunodeficiency (ADA-SCID) Requiring Enzyme Replacement Therapy (ERT)
10. Newborn tandem mass spectroscopy screening for adenosine deaminase deficiency
11. Anti-PEG Antibodies Inhibit the Anticoagulant Activity of PEGylated Aptamers
12. Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency.
13. Outcomes following treatment for ADA-deficient severe combined immunodeficiency: a report from the PIDTC
14. Common Variable Immunodeficiency in a Carrier of the ADA2 R169Q Variant: Coincidence or Causality?
15. Intrinsic Defects in B Cell Development and Differentiation, T Cell Exhaustion and Altered Unconventional T Cell Generation Characterize Human Adenosine Deaminase Type 2 Deficiency
16. Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients
17. Adenosine Deaminase (ADA) Deficiency: A functional in vitro assay to assess the pathogenicity potential of 44 novel ADA gene variants of unknown significance (VUS).
18. Long-term outcomes after gene therapy for adenosine deaminase severe combined immune deficiency
19. Correction to: Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency: Report on 30 Patients
20. Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2)
21. Deficiency of Adenosine Deaminase 2—a Monogenic Cause of Wunderlich Syndrome
22. Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency.
23. A Case with Purine Nucleoside Phosphorylase Deficiency Suffering from Late-Onset Systemic Lupus Erythematosus and Lymphoma
24. Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient—Addendum to the Genotype-Phenotype Puzzle
25. Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency
26. Neurologic Status of Patients With Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation
27. Childhood Hodgkin Lymphoma: Think DADA2
28. Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2
29. Recommendations from the ClinGen SCID VCEP: Implementation of ACMG/AMP Variant Curation Guidelines for Severe Combined Immunodeficiency Disease
30. Early immune reconstitution in an infant with adenosine deaminase deficient severe combined immunodeficiency started on enzyme replacement therapy
31. Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement
32. ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome
33. Event Free Survival in Severe Combined Immune Deficiency (SCID) Infants after Conditioned Umbilical Cord Blood Transplantation (UCBT) Benefits from Omitting Serotherapy
34. Hematopoietic Stem Cell Transplantation in ADA2 Deficiency: Early Restoration of ADA2 Enzyme Activity and Disease Relapse upon Drop of Donor Chimerism
35. 116 - Event Free Survival in Severe Combined Immune Deficiency (SCID) Infants after Conditioned Umbilical Cord Blood Transplantation (UCBT) Benefits from Omitting Serotherapy
36. Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency
37. Case Report: Deficiency of Adenosine Deaminase 2 (DADA2) as a Cause of Brainstem Stroke in a 3-Year-Old Girl and the Importance of Early Fast-Track Genetic Diagnostics to Influence Therapy
38. Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots
39. Development of PEGylated mammalian urate oxidase as a therapy for patients with refractory gout
40. Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency
41. Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders
42. Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience
43. Biochemical and Immunological Abnormalities in Purine Nucleoside Phosphorylase Deficient Mice
44. Inhibition of Fetal Thymic Caspases Abrogates the Consequences of Adenosine Deaminase Deficiency
45. Gene therapy for adenosine deaminase–deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans
46. Outcomes in Two Japanese Adenosine Deaminase-Deficiency Patients Treated by Stem Cell Gene Therapy with No Cytoreductive Conditioning
47. Outcomes after Hematopoietic Cell Transplant and Gene Therapy for Adenosine Deaminase (ADA) Severe Combined Immune Deficiency: A Combined Analysis from the Primary Immune Deficiency Treatment Consortium (PIDTC) 6901 and 6902 Studies
48. Polyethylene Glycol‐Like Brush Polymer Conjugate of a Protein Drug Does Not Induce an Antipolymer Immune Response and Has Enhanced Pharmacokinetics than Its Polyethylene Glycol Counterpart
49. Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach
50. Uric acid is a danger signal of increasing risk for osteoarthritis through inflammasome activation
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