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Open AccessClinical 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...
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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...
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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,...
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Article
Open AccessFailure 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.
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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...
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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...