Pyridoxine Responsiveness in a Type 1 Primary Hyperoxaluria Patient With a Rare (Atypical) AGXT Gene Mutation

af Singh, Prince, Chebib, Fouad T., Cogal, Andrea G., Gavrilov, Dimitar K., Harris, Peter C., Lieske, John C.
Udgivet i Kidney Int Rep (2020)

The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism

af Gavrilov, Dimitar K., Piazza, Amy L., Pino, Gisele, Turgeon, Coleman, Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Tortorelli, Silvia, Rinaldo, Piero
Udgivet i Int J Neonatal Screen (2020)

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

af 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
Udgivet i JIMD Rep (2021)

Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature

af Poskanzer, Sheri A., Schultz, Matthew J., Turgeon, Coleman T., Vidal-Folch, Noemi, Liedtke, Kris, Oglesbee, Devin, Gavrilov, Dimitar K., Tortorelli, Silvia, Matern, Dietrich, Rinaldo, Piero, Bennett, James T., Thies, Jenny M., Chang, Irene J., Beck, Anita E., Raymond, Kimiyo, Allenspach, Eric J., Lam, Christina
Udgivet i Am J Med Genet A (2020)

A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders †

af Sanders, Karen A., Gavrilov, Dimitar K., Oglesbee, Devin, Raymond, Kimiyo M., Tortorelli, Silvia, Hopwood, John J., Lorey, Fred, Majumdar, Ramanath, Kroll, Charles A., McDonald, Amber M., Lacey, Jean M., Turgeon, Coleman T., Tucker, Justin N., Tang, Hao, Currier, Robert, Isaya, Grazia, Rinaldo, Piero, Matern, Dietrich
Udgivet i Int J Neonatal Screen (2020)

Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria

af Sloan, Jennifer L., Johnston, Jennifer J., Manoli, Irini, Chandler, Randy J., Krause, Caitlin, Carrillo-Carrasco, Nuria, Chandrasekaran, Suma D., Sysol, Justin R., O’Brien, Kevin, Hauser, Natalie S., Sapp, Julie C., Dorward, Heidi M., Huizing, Marjan, Barshop, Bruce A., Berry, Susan A., James, Philip M., Champaigne, Neena L., de Lonlay, Pascale, Valayannopoulos, Vassilli, Geschwind, Michael D., Gavrilov, Dimitar K., Nyhan, William L., Biesecker, Leslie G., Venditti, Charles P.
Udgivet 2011

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma

af Blackburn, Patrick R., Hickey, Raymond D., Nace, Rebecca A., Giama, Nasra H., Kraft, Daniel L., Bordner, Andrew J., Chaiteerakij, Roongruedee, McCormick, Jennifer B., Radulovic, Maja, Graham, Rondell P., Torbenson, Michael S., Tortorelli, Silvia, Scott, C. Ronald, Lindor, Noralane M., Milliner, Dawn S., Oglesbee, Devin, Al‐Qabandi, Wafa'a, Grompe, Markus, Gavrilov, Dimitar K., El‐Youssef, Mounif, Clark, Karl J., Atwal, Paldeep S., Roberts, Lewis R., Klee, Eric W., Ekker, Stephen C.
Udgivet i Hum Mutat (2016)