Stephanie Austin

Effectiveness of an image analyzing AI-based Digital Health Technology to identify Non-Melanoma Skin Cancer and other skin lesions: results of the DERM-003 study

Helen Marsden, Caroline Morgan, Stephanie Austin, Claudia DeGiovanni et autres

Introduction: Identification of skin cancer by an Artificial Intelligence (AI)-based Digital Health Technology could help improve the triage and management of suspicious skin lesions. Methods: The DERM-003 study (NCT04116983) was a prospective, multi-center, single-arm, masked study that aimed to demonstrate the effectiveness …

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P15 Progressive papulonodular eruption following COVID-19 infection: a rare diagnosis and review of the literature

Rhian Sheppeard, Stephanie Austin, Caroline Morgan, Margaret Ashton‐Key

Abstract We report a rare case of primary cutaneous CD8+ aggressive epidermotrophic cytotoxic T-cell lymphoma with striking clinical and histopathological features. A 51-year-old man, originally from Cameroon, presented to the department with a 6-week history of a progressive, itchy papulosquamous eruption that …

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Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource

Rebecca L. Koch, Claudia Soler‐Alfonso, Bridget T. Kiely, Akihiro Asai et autres

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O18: A path forward for patients with glycogen branching enzyme deficiency: Consensus on diagnosing and managing glycogen storage disease type IV*

Rebecca E. Koch, Claudia Soler‐Alfonso, Bridget Kiely, Akihiro Asai et autres

A RETROSPECTIVE LONGITUDINAL STUDY AND COMPREHENSIVE REVIEW OF ADULT PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE III

Ghada Hijazi, Anna K. Paschall, Sarah P. Young, Laura E. Case et autres

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Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?

Areeg El‐Gharbawy, Adviye Ayper Tolun, Carine A. Halaby, Stephanie Austin et autres

Introduction: Biotinidase synthesis is needed to recycle biotin for essential metabolic reactions. Biotinidase activity is lower than normal levels in advanced liver disease but is higher in hepatic glycogen storage disorders (GSDs), however the cause of this association remains unclear. Methods: In …

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A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III

Ghada Hijazi, Anna K. Paschall, Sarah P. Young, Brian P. Smith et autres

A deficiency of glycogen debrancher enzyme in patients with glycogen storage disease type III (GSD III) manifests with hepatic, cardiac, and muscle involvement in the most common subtype (type a), or with only hepatic involvement in patients with GSD IIIb. To describe …

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Table 3. [Recommended Evaluations at Initial Diagnosis in Individuals with Glycogen Storage Disease Type I].

Deeksha Bali, Areeg El‐Gharbawy, Stephanie Austin, Surekha Pendyal et autres

Table 5. [Glycogen Storage Disease Type I: Notable Pathogenic Variants by Gene].

Deeksha Bali, Areeg El‐Gharbawy, Stephanie Austin, Surekha Pendyal et autres

Table 2. [Disorders in the Differential Diagnosis of Glycogen Storage Disease Type I].

Deeksha Bali, Areeg El‐Gharbawy, Stephanie Austin, Surekha Pendyal et autres

Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature

Anna K. Paschall, Aleena Khan, Syed Faaiz Enam, Tracy Boggs et autres

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Targeted long-read sequencing identifies missing disease-causing variation

Danny E. Miller, Arvis Sulovari, Tianyun Wang, Hailey Loucks et autres

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