Sep 2026· Journal of Diabetes and Metabolic Disorders· Vol 25· 0 citations· 67 references
Medicine
TL;DR
This review aims to provide a comprehensive overview of inherited metabolic disorders associated with hyperammonemia and to evaluate the diagnostic role of whole-exome sequencing (WES), with particular attention to Iranian patient data.
AACD should be considered in adolescents and adults with otherwise unexplained recurrent hyperammonemic encephalopathy, especially when ammonia elevation is disproportionate to liver disease, and molecular testing enables definitive diagnosis and timely management.
T. N. Pham, Van Huy Vo, Q. H. Nguyen et al.· Journal of Clinical Medicine· 0 citations
A novel case of the PUS7-related disorder, which was diagnosed in a young girl referred to the authors' center following a misdiagnosis of Kleefstra Syndrome type 2, and its similarities with a main spliceosomopathy, ReNU syndrome are investigated, suggesting that disorders of pseudouridylation might possibly be includ...
Cholestasis is caused by genetic disorders in 25% of cases. Our study aimed to describe the clinical and genetic profile of cholestasis and to demonstrate the importance of next-generation sequencing (NGS) in the etiologic diagnosis of genetic cholestasis. We included patients referred for cholestasis over a 10-year pe...
Amal Abdmouleh, H. Jilani, I. Rejeb et al.· Clinical Genetics· 0 citations
Hyperhomocysteinemia in adolescence typically prompts investigation for classical inborn errors of sulfur amino acid metabolism, including cystathionine β-synthase deficiency and cobalamin-dependent remethylation disorders. However, persistent elevations may also arise from interactions between common genetic polymorph...
Zainab Al Masseri, C. Marshall, N. Martin et al.· Frontiers in Genetics· 0 citations
Introduction Genodermatoses are a group of monogenic inherited skin disorders characterized by marked genetic heterogeneity. Although the phenotype of many genodermatoses is readily recognizable on clinical examination, it is often insufficient to establish the precise molecular genetic etiology. Currently, the use of...
A. Kudakaeva, O. Parshina, A. Botkina et al.· Frontiers in Medicine· 0 citations
Objective: Objective: Auto-brewery syndrome (ABS) is an extremely rare (~100 cases) and likely underdiagnosed condition characterized by the microbial fermentation of carbohydrates in the gastrointestinal tracts, resulting in endogenous production of ethanol in the absence of alcohol consumption. Patients present as...
Jada Ross, Sam Erhan, Maureen Lacy· Archives of Clinical Neurops...· 0 citations
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