Lv1
48 积分 2024-10-15 加入
Molecular analysis of SMN2, NAIP, and GTF2H2 gene deletions and relationships with clinical subtypes of spinal muscular atrophy
3个月前
已完结
Inflammatory bowel disease responsive to SGLT2 inhibitor in a child with G6PC3 deficiency
4个月前
已关闭
Successful repurposing of empagliflozin to treat neutropenia in a severe congenital neutropenia patient with G6PC3 mutations
5个月前
已关闭
SLGT2 Inhibitor Rescues Myelopoiesis in G6PC3 Deficiency
5个月前
已完结
Enolase‐1 Is a Key Regulator of Neutrophil Recruitment During Acute Inflammation
6个月前
已完结
Immune dysregulation in glycogen storage disease 1b extends beyond neutropenia
7个月前
已完结
Lethal Phenotype and Expansion of the Clinical Spectrum of Biallelic Loss of Function Variant in SENP7 Gene Unveiled by Whole Exome Sequencing
8个月前
已完结
Hematologically important mutations: X-linked chronic granulomatous disease (third update)
9个月前
已完结
Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: An Italian multicenter study
9个月前
已完结
Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients
9个月前
已完结
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