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5 in total

1. SLGT2 Inhibitor Rescues Myelopoiesis in G6PC3 Deficiency.

Authors: Prashant Hiwarkar; Umair Bargir; Ambreen Pandrowala; Minnie Bodhanwala; Naresh Thakker; Prasad Taur; Manisha Madkaikar; Mukesh Desai
Journal: J Clin Immunol Date: 2022-07-15 Impact factor: 8.542

2. Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.

Authors: I Santisteban; F X Arredondo-Vega; S Kelly; A Mary; A Fischer; D S Hummell; A Lawton; R U Sorensen; E R Stiehm; L Uribe
Journal: J Clin Invest Date: 1993-11 Impact factor: 14.808

3. Genetic heterogeneity in adenosine deaminase (ADA) deficiency: five different mutations in five new patients with partial ADA deficiency.

Authors: R Hirschhorn; A Ellenbogen
Journal: Am J Hum Genet Date: 1986-01 Impact factor: 11.025

4. Insulin-dependent diabetes mellitus and severe atopic dermatitis in a child with adenosine deaminase deficiency.

Authors: L D Notarangelo; G Stoppoloni; R Toraldo; E Mazzolari; A Coletta; P Airò; C Bordignon; A G Ugazio
Journal: Eur J Pediatr Date: 1992-11 Impact factor: 3.183

5. Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency.

Authors: G Morgan; R J Levinsky; K Hugh-Jones; L D Fairbanks; G S Morris; H A Simmonds
Journal: Clin Exp Immunol Date: 1987-12 Impact factor: 4.330

5 in total