Lauren Youngborg

Epidemiology of Stargardt Disease (STGD) and Macular Dystrophies (MDs) Expressing a STGD-like Clinical Presentation

Alessandro Iannaccone, Jens Rovelt, Tmirah Haselkorn, Andrew Chilelli et autres

MDs expressing a STGD and STGD-like (i.e., STGD-type) clinical presentation are associated with considerable genetic heterogeneity. The most common STGD-type MD is recessive in nature and ABCA4-associated. A group of conditions with phenotypes very similar to those of ABCA4-linked STGD disease is …

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The PKU Patient Registry: Development of a patient-driven registry and initial outcomes

Lauren Youngborg, Christine Brown, Eileen Blakely, Olaf A. Bodamer et autres

A patient registry facilitates collection of data on a group of patients with similar conditions. While some registries collect clinician-input data, patient-entered registries prioritize the perspective of patients and families. To better support research for phenylketonuria (PKU), National PKU Alliance (NPKUA) launched …

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The Pku Patient Registry: Development of a Patient-Driven Registry and Initial Outcomes

Lauren Youngborg, Christine Brown, Eileen Blakely, Olaf A. Bodamer et autres

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Self-reported neurobehavioral impact of phenylketonuria in adult PKU patient registry participants

Lauren Youngborg, Stephen Aselage, Christine Brown, Rhonda Connolly et autres

Genetic testing experiences and genetics knowledge among families with inherited metabolic diseases

Aileen Kenneson, Lauren Youngborg, Rani H. Singh

We surveyed individuals with inherited metabolic diseases (IMDs) or their caregivers to explore experiences with genetic testing. Pursuit of knowledge, benefit to science, clinician recommendations, cascade testing, and cost were important considerations for pursuing genetic testing. Knowledge about inheritance patterns was limited, …

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Natural history of children and adults with maple syrup urine disease in the NBS-MSUD Connect registry

Aileen Kenneson, Yetsa Osara, Theresa Pringle, Lauren Youngborg et autres

Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder (OMIM #248600) in which affected individuals cannot metabolize branched-chain amino acids (BCAA) (leucine, isoleucine, and valine) due to pathogenic variations in one of three genes: BCKDHA, BCKDHB, and DBT encoding …

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Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients

Douglas L. Riegert‐Johnson, Ferga C. Gleeson, Maegan E. Roberts, Krysta Tholen et autres

BACKGROUND: Cancer risk and Lhermitte-Duclos disease (LDD) risk estimates for Cowden syndrome (CS) are broad and based on a small number of patients. Risk estimates are vital to the development of diagnostic criteria, genetic counseling, and cancer surveillance. To further elaborate and …

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