6 publication(s) trouvée(s)
Article scientifique
Genetic etiology of inherited kidney diseases in egyptian patients: next generation sequencing identifies six novel variants
BACKGROUND: Inherited kidney diseases (IKDs) are a significant cause of chronic kidney disease (CKD) and end-stage kidney disease (ESKD), especially …
Article scientifique
Exploring the boundaries of Niemann-Pick disease type A/B: a report of a case and review of literature
BACKGROUND: Acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease types A and B, is a rare autosomal recessive lysosomal …
Article scientifique
Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt
BACKGROUND: This study aimed to identify GBA1 variants in Egyptian Gaucher disease (GD) patients residing in a region with high …
Article scientifique
Outcome of enzyme replacement therapy for hematological and visceral manifestations in children with acid sphingomyelinase deficiency: a single center experience in upper Egypt
BACKGROUND: Thrombocytopenia is the most common hematologic manifestation of acid sphingomyelinase deficiency (ASMD). The introduction of enzyme replacement therapy (ERT) …
Article scientifique
Impact of steroid therapy on pediatric acute liver failure: prognostic implication and interplay between TNF-α and miR-122
BACKGROUND: Acute liver failure (ALF) is a rare illness marked by rapid deterioration of liver function, leading to high morbidity …
Article scientifique
Proceedings of the 9th International Symposium on MDS and SAA in Childhood
Hematopoietic stem cells (HSC) are responsible for life-long maintenance and regeneration of the adult vertebrate blood system.The first HSCs arise …