Aria Setoudeh
Associated Professor of Pediatric Endocrinology, Pediatric Endocrinology Department, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran.
[ 1 ] - Assessment of Sexual Maturation among Boys in Special Schools of Tehran, Iran
Background: Due to lack of detailed standards of sexual maturity in individuals with Intellectual, sensory and motor disability in Iran and the importance of timing of onset of puberty in these individuals, a study is necessary. By knowing the onset of puberty, physiologic and behavioral changes can be traced in these people, as well as the potential impact of the puberty on the underlying dise...
[ 2 ] - Mutational Analysis and Genotype Investigation of Less Known Gaucher Mutations through Haplotype Analysis in Iranian Gaucher patients
Gaucher's disease (GD) is the most frequent lysosomal storage disorder resulting from a deficiency of the enzyme glucocerebrosidase (GBA) which causes the accumulation of glucocerebroside. More than 500 mutations have been reported on the GBA gene so far. In this study, we aimed to investigate more on the genotype of less known mutations through haplotype analysis to explain their disease-causi...
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