ADA2 Deficiency: Case Series of Five Patients with Varying Phenotypes
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H. E. Sönmez | M. Çakan | Ş. Karadağ | A. Tanatar | N. Aktay Ayaz | B. Sözeri | Yasemin Kendir Demirkol
[1] S. Özen,et al. AB0574 A MONOGENIC DISEASE WITH WIDE RANGE OF SYMPTOMS: DEFICIENCY OF ADENOSINE DEAMINASE 2 , 2019, Abstracts Accepted for Publication.
[2] S. Özen,et al. A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2 , 2019, The Journal of Rheumatology.
[3] D. Kastner,et al. Treatment Strategies for Deficiency of Adenosine Deaminase 2. , 2019, The New England journal of medicine.
[4] Pui Y. Lee. Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2 , 2018, Front. Pediatr..
[5] I. Meyts,et al. Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment , 2018, Journal of Clinical Immunology.
[6] Hong Jiang,et al. Deficiency of Adenosine Deaminase 2 in Adult Siblings: Many Years of a Misdiagnosed Disease With Severe Consequences , 2018, Front. Immunol..
[7] G. Damonte,et al. ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study , 2017, Annals of the rheumatic diseases.
[8] M. Hershfield,et al. Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency. , 2016, The Journal of pediatrics.
[9] F. Penco,et al. Monogenic polyarteritis: the lesson of ADA2 deficiency , 2016, Pediatric Rheumatology.
[10] P. Nederkoorn,et al. Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. , 2016, Rheumatology.
[11] N. Klein,et al. Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases , 2016, Arthritis & rheumatology.
[12] S. Özen,et al. A case series of adenosine deaminase 2 deficient patients emphasizing treatment and genotype-phenotype correlations , 2015, The Journal of Rheumatology.
[13] T. Walsh,et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. , 2014, The New England journal of medicine.
[14] J. Mullikin,et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. , 2014, The New England journal of medicine.
[15] Chaffee Vw,et al. Suppurative mandibular osteomyelitis associated with Pasteurella multocida in a rabbit. , 1975 .
[16] O. Kasapcopur,et al. A monogenic autoinflammatory disease with fatal vasculitis: deficiency of adenosine deaminase 2. , 2019, Current opinion in rheumatology.
[17] H. Ozdogan,et al. Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency , 2017, Rheumatology International.
[18] R. Montali,et al. Suppurative mandibular osteomyelitis associated with Pasteurella multocida in a rabbit. , 1975, Veterinary medicine, small animal clinician : VM, SAC.