Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings

por Guenzel, Adam J., DeBarber, Andrea, Raymond, Kimiyo, Dhamija, Radhika
Publicado 2021

Mitochondrial Integrity and Function in the Progression of Early Pressure Overload–Induced Left Ventricular Remodeling

por Chaanine, Antoine H., Sreekumaran Nair, K, Bergen, Robert H., Klaus, Katherine, Guenzel, Adam J., Hajjar, Roger J., Redfield, Margaret M.
Publicado 2017

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

por Guenzel, Adam J., Hall, Patricia L., Scott, Anna I., Lam, Christina, Chang, Irene J., Thies, Jenny, Ferreira, Carlos R., Pichurin, Pavel, Laxen, William, Raymond, Kimiyo, Gavrilov, Dimitar K., Oglesbee, Devin, Rinaldo, Piero, Matern, Dietrich, Tortorelli, Silvia
Publicado 2021