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Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene

by jlohrconsulting | Nov 10, 2025 | Uncategorized

Front Genet. 2025 Oct 24;16:1670299. doi: 10.3389/fgene.2025.1670299. eCollection 2025. ABSTRACT Adenylosuccinate lyase deficiency (ALD) is a rare neurometabolic disorder caused by biallelic loss-of-function variants in the ADSL gene. We report a severe type I ALD...

Vagus nerve stimulation for spike-and-wave activation in sleep in a pediatric patient: a case report

by jlohrconsulting | Nov 10, 2025 | Uncategorized

Front Neurosci. 2025 Oct 23;19:1675783. doi: 10.3389/fnins.2025.1675783. eCollection 2025. ABSTRACT BACKGROUND: Evidence regarding the efficacy of vagus nerve stimulation (VNS) in treating developmental and epileptic encephalopathy/ epileptic encephalopathy with...

Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene

by jlohrconsulting | Nov 10, 2025 | Uncategorized

Front Genet. 2025 Oct 24;16:1670299. doi: 10.3389/fgene.2025.1670299. eCollection 2025. ABSTRACT Adenylosuccinate lyase deficiency (ALD) is a rare neurometabolic disorder caused by biallelic loss-of-function variants in the ADSL gene. We report a severe type I ALD...

Vagus nerve stimulation for spike-and-wave activation in sleep in a pediatric patient: a case report

by jlohrconsulting | Nov 10, 2025 | Uncategorized

Front Neurosci. 2025 Oct 23;19:1675783. doi: 10.3389/fnins.2025.1675783. eCollection 2025. ABSTRACT BACKGROUND: Evidence regarding the efficacy of vagus nerve stimulation (VNS) in treating developmental and epileptic encephalopathy/ epileptic encephalopathy with...

Case Report: Adenylosuccinate lyase deficiency type I caused by splicing disruption due to a novel missense variant in the ADSL gene

by jlohrconsulting | Nov 10, 2025 | Uncategorized

Front Genet. 2025 Oct 24;16:1670299. doi: 10.3389/fgene.2025.1670299. eCollection 2025. ABSTRACT Adenylosuccinate lyase deficiency (ALD) is a rare neurometabolic disorder caused by biallelic loss-of-function variants in the ADSL gene. We report a severe type I ALD...
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Recent Posts

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  • Assessing schema modes for eating disorders and their association with personality traits: validation of the English version of the short form of the schema modes inventory for eating disorders (EN-SMI-ED-SF)

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