Galloway-Mowat syndrome (GMS) is an autosomal recessive disorder with a poor prognosis that was first defined as a triad of central nervous system involvement, hiatal hernia, and nephrotic syndrome. However, this syndrome is now known to have a heterogeneous clinical presentation. The nephrotic syndrome is steroid resistant and is responsible for the outcome. The combination of collapsing glome...

BACKGROUND Aicardi syndrome is a severe neurodevelopmental disorder characterized by infantile spasms, typical chorioretinal lacunae, agenesis of the corpus callosum, and other neuronal migration defects. It has been reported recently that de novo variants in TEAD1 and OCEL1 each may cause Aicardi syndrome in a single individual of a small cohort of females with this clinical diagnosis. These d...

CHARGE is a phenotypically heterogeneous autosomal dominant disorder recognized as a cohesive syndrome since the identification of CHD7 as a genetic etiology. Classic features include: Coloboma, Heart defects, Atresia choanae, Retarded growth and development, Genitourinary abnormalities, and Ear anomalies and/or deafness. With greater accessibility to genetic analysis, a wider spectrum of featu...

in the present study, the synthesis of diethylene triamine supported on cellulose biopolymer as a biodegradable solid basic heterogeneous catalyst was suggested. then, the applicability of the synthesized catalyst cellulose bonded n-propyl diethylene triamine (cbpdeta) was tested for the synthesis of oxindole derivatives, an important class of potentially bioactive compounds. a various series o...

Background: Posterior reversible leukoencephalopathy syndrome (PRLS) is a clinical and radiological syndrome of heterogeneous etiologies that are grouped because of the similar findings on neuroimaging studies which may occur at any age. The pathogenesis of RPLS remains unclear, but it appears to be related to disordered cerebral autoregulation and endothelial dysfunction. The syndrome is more ...

The lysosomal storage disorders are a group of diseases that typified by an accumulation waste products in the lysosomes. Mucopolysaccharidoses due to diverse enzyme deficiencies. Ms HT was 2 years and 5 months old when she presented our metabolic bone clinic with clinical features were suggestive genetic syndrome associated disease. urine GAG spot test positive. MPS screen identified reduction...