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  1. Article

    Open Access

    Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

    Succinic semialdehyde dehydrogenase deficiency (SSADHD) represents a model neurometabolic disease at the fulcrum of translational research within the Boston Children’s Hospital Intellectual and Developmental D...

    Itay Tokatly Latzer, Jean-Baptiste Roullet in Journal of Neurodevelopmental Disorders (2024)

  2. No Access

    Article

    Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants

    To investigate the genotype-to-protein-to-phenotype correlations of succinic semialdehyde dehydrogenase deficiency (SSADHD), an inherited metabolic disorder of γ-aminobutyric acid catabolism. Bioinformatics an...

    Itay Tokatly Latzer, Jean-Baptiste Roullet, Samuele Cesaro in Human Genetics (2023)

  3. No Access

    Article

    Predictors of disease course and long-term outcomes of idiopathic intracranial hypertension in children and adolescents

    This study aimed to identify predictors for unfavorable disease course and clinical and visual outcomes in pediatric patients with idiopathic intracranial hypertension (IIH). Employing a multi-tiered approach,...

    Noam Senderowich, Anat Bachar-Zipori, Alexis Mitelpunkt in European Journal of Pediatrics (2023)

  4. Article

    Open Access

    Failure of Israeli pediatric residency curricula to cover child development and special education issues: results of a national survey on levels of knowledge

    There is an increasing prevalence of developmental difficulties among Israeli children. We aimed to assess whether pediatricians are equipped to diagnose and manage them.

    Itay Tokatly Latzer, Zachi Grossman in Israel Journal of Health Policy Research (2021)

  5. No Access

    Article

    Neurodevelopmental outcome of children born with an isolated atretic cephalocele

    The existing data on the neurodevelopmental outcome of children born with an isolated atretic cephalocele (IAC) are scant. We aimed to expand upon these data by describing our experience with affected children...

    Itay Tokatly Latzer, Jonathan Roth, Shlomi Constantini in Child's Nervous System (2021)

  6. No Access

    Article

    Disordered eating behaviors in adolescents with celiac disease

    Celiac disease (CD) is a chronic immune-mediated systemic disease characterized by inflammation and villous atrophy of the small intestine. A strict, lifelong gluten-free diet (GFD) is the only treatment for C...

    Itay Tokatly Latzer, Liat Lerner-Geva in Eating and Weight Disorders - Studies on A… (2020)