A typical surgical technique for pregnant women with potentially fatal problems affecting the mother or fetus is an emergency cesarean section (ECS). The decision-to-delivery interval (DDI) for ECS should be within 30 minutes. The objective of this study was to investigate crash ECS indications and effects on maternal and neonatal outcomes.
View Article and Find Full Text PDFSanfilippo syndrome is a childhood-onset (1-4 years) autosomal recessive lysosomal storage disease that presents as a neurodegenerative disease by targeting the brain and spinal cord. It is also known as mucopolysaccharidosis III. Mucopolysaccharidosis III is divided into four subtypes (A, B, C, or D).
View Article and Find Full Text PDFJ Microsc Ultrastruct
December 2022
Background: Guanidinoacetate methyltransferase deficiency (GAMT) is an autosomal recessive inborn error of metabolism. A condition that results from a pathogenic variant in the GAMT gene that maps to 19p13.3.
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