Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Elham Keyhanian"'
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-6 (2024)
Abstract Background Glycogen storage disease type IX is a rare disorder that can cause a wide variety of symptoms depending on the specific deficiency of the phosphorylase kinase enzyme and the organs it affects. Case presentation A 4-and-a-half-year
Externí odkaz:
https://doaj.org/article/0cff22bbda8f42fe96d5f37d8d9f6a8d
Publikováno v:
Global Pediatric Health, Vol 10 (2023)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the causes of severe hyperbilirubinemia, prolonged jaundice, and bilirubin-induced encephalopathy in neonates. In a randomized controlled trial, we evaluated the effect of oral ursodeoxych
Externí odkaz:
https://doaj.org/article/15a4626f66af4f6b9610dd0965f4c6cc
Publikováno v:
Journal of Pediatrics Review, Vol 8, Iss 3, Pp 181-188 (2020)
Isovaleric Acidemia (IVA) is an autosomal recessive Inborne Error of Metabolism (IEM), i.e., caused by the mutation of isovaleric-CoA dehydrogenase. Two phenotypes of IVA are reported; acute and chronic. The case was a 3-year-old boy with chronic int
Externí odkaz:
https://doaj.org/article/b621e7c252e2463d9326e48e712e1747
Publikováno v:
Journal of Pediatrics Review, Vol 7, Iss 5, Pp 16-16 (2019)
Background: The deaths of children and adolescents due to accidents in most countries is one of the serious health problems. In Iran, one of the most common causes of death for this age group is unintentional injuries. This study aimed to investigate
Externí odkaz:
https://doaj.org/article/b773a24cfaba4aebb1004dee6813db33
Publikováno v:
Journal of Case Reports and Clinical Studies. 1:1-4
Background: Glycogen storage disease type 1a (GSD-1a) is the most common form of GSDs, accounting for 80% of these cases. Here we present a 16-month-old boy being treated for GSD-1a at our clinic. Case presentation: Given that the patient was not exa