Global Journal of Pediatrics

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  • Volume: 1, Issue: 2

Jun 29, 2022

Predicting Biopterin Responsive Cases by Studying Phenylalanine Hydroxylase Mutations in Children Diagnosed with Phenylketonuria in Syria

Aim: Phenylketonuria occurs in patients with phenylalanine hydroxylase deficiency, and some mutations are responsive to Biopterin (BH4) therapy, which reduces the need for the use of hydrolysates and diet foods. This study describes the clinical and genetic features of 35 independent, authentic Syrian cases, in order to identify the dominant genotypes and predict response to BH4.

  • Volume: 1, Issue: 1

Apr 29, 2022

Zhu-Tokita-Takenouchi-Kim Syndrome: Clinical and Genetic Analysis of the First Tunisian Case Caused by De Novo Mutation C. 5753_5756 Del in the SON Gene

Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a rare, severe autosomal dominant genetic disorder caused by heterozygous variants in the SON gene. This syndrome characterized by intellectual disability, brain malformation, facial dysmorphism, musculoskeletal abnormalities, and some visceral malformations. There are only 33 cases reported to date since the first report in 2015.

Mar 16, 2022

Risk Factors of Depression and Suicidal Behaviors among Adolescents

Objective: To demonstrate the risk factors of depression, suicidal ideation, suicidal attempt and suicide attempt that need hospitalization. Methods: Data were obtained from the Youth Risk Behavior Survey (2013). This survey was a population based, nationally representative, cross-sectional survey in adolescents aged 13 years to 24-year-old selected by using stratified multistage sampling.

Oct 08, 2021

Do we need to Vaccinate Every Child Against COVID-19?

The world has been through the worst pandemic of last 100 years and COVID-19 have been a health emergency of the most significant impact that has put the whole world under siege. But the silver lining during these gloomy times have been the fast development of COVID-19 vaccines. Within a short span, the scientific the community rose to the occasion and developed vaccines against this raising pandemic, but the biggest concern now is equitable distribution and judicious use of the vaccines.

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