SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience.
|
28266921 |
2019 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Combined immunodeficiencies: twenty years experience from a single center in Turkey.
|
27095930 |
2016 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.
|
27129325 |
2016 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.
|
26255240 |
2015 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.
|
26376800 |
2015 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.
|
26376800 |
2015 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.
|
26255240 |
2015 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy.
|
23260757 |
2013 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Novel mutations in RAG1/2 and ADA genes in Israeli patients presenting with T-B-SCID or Omenn syndrome.
|
21624848 |
2011 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Determination of adenosine deaminase activity in dried blood spots by a nonradiochemical assay using reversed-phase high-performance liquid chromatography.
|
20544538 |
2010 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Gene therapy for immunodeficiency due to adenosine deaminase deficiency.
|
19179314 |
2009 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications.
|
17185467 |
2007 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Reduced thymic output, increased spontaneous apoptosis and oligoclonal B cells in polyethylene glycol-adenosine deaminase-treated patients.
|
16276484 |
2005 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Genotype is an important determinant of phenotype in adenosine deaminase deficiency.
|
14499267 |
2003 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation.
|
11313286 |
2001 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency.
|
11160213 |
2001 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation.
|
11313286 |
2001 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
|
9758612 |
1998 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency.
|
9414266 |
1998 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.
|
9758612 |
1998 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Successful peripheral T-lymphocyte-directed gene transfer for a patient with severe combined immune deficiency caused by adenosine deaminase deficiency.
|
9414266 |
1998 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.
|
9361033 |
1997 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Adenosine deaminase deficiency in adults.
|
9108404 |
1997 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency.
|
8614422 |
1996 |
SCID Due to ADA Deficiency, Early-Onset
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Adenosine deaminase deficiency: molecular basis and recent developments.
|
7554472 |
1995 |