Volume 12 (2024)
Volume 11 (2023)
Volume 10 (2022)
Volume 9 (2021)
Volume 8 (2020)
Volume 7 (2019)
Volume 6 (2018)
Volume 5 (2017)
Volume 4 (2016)
Volume 3 (2015)
Volume 2 (2014)
Volume 1 (2013)
Author = eshraghi, peyman
Number of Articles: 6
Transcobalamin Deficiency with the Mutation of Tcn2 in Children with the Primary Diagnosis of Methylmalonic Academia
Volume 11, Issue 7 , July 2023, , Pages 18099-18103
Abstract
Transcobalamin deficiency as a rare autosomal recessive disorder and methylmalonic acidemia is an autosomal recessive disorder of amino acid metabolism. Based on the common presentation ... Read More
The Effectiveness of Parenteral Hydroxylcobalamin on Urine Mma in Children with Methylmalonic Acidemia
Volume 11, Issue 3 , March 2023, , Pages 17470-17476
Abstract
Background: Methylmalonic acidemia is a rare autosomal recessive disease in which there is a deficiency of intracellular cobalamin. This study aimed to assess the effectiveness of parenteral ... Read More
The Effects of Enzyme Replacement Therapy in Patients with Mucopolysaccharidosis Type 1: A Case Series Study
Volume 10, Issue 4 , April 2022, , Pages 15853-15864
Abstract
Background: Mucopolysaccharidosis type I (MPS1) is caused by mutations in the gene which encodes the enzyme alpha-L-iduronidase. Deficiency of this enzyme causes a range of clinical ... Read More
Type 1 Tyrosinemia with Hypophosphatemic Rickets; a Case Report
Volume 2, Issue 3.3 , September 2014, , Pages 63-66
Abstract
Background: Tyrosinemia type 1 is an autosomal recessive metabolic disorder, which typically affects liver and kidneys. It is caused by a defect in fumarylacetoacetate hydrolase or ... Read More
A Methylmalonic Acidemia Case Presenting with Acrodermatitis Enteropathica
Volume 2, Issue 3.2 , August 2014, , Pages 73-76
Abstract
We encountered a patient with methylmalonic aciduria associated with skin lesions resembling acrodermatitis enteropathica. This child was being fed with a low-protein diet when the ... Read More
Effectiveness of Group Cognitive-Behavioral Therapy on Anxiety, Depression and Glycemic Control in Children with Type 1 Diabetes
Volume 2, Issue 3.1 , July 2014, , Pages 165-171