Holocarboxylase synthetase deficiency pre and post newborn screening

by Donti, Taraka R., Blackburn, Patrick R., Atwal, Paldeep S.
Published 2016

Case report: 5 year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS)

by Sunde, Kiri, Blackburn, Patrick R., Cheema, Anvir, Gass, Jennifer, Jackson, Jessica, Macklin, Sarah, Atwal, Paldeep S.
Published 2016

19-Year Follow-up of A Patient With Severe Glutathione Synthetase Deficiency

by Atwal, Paldeep S., Medina, Casey R., Burrage, Lindsay C., Sutton, V. Reid
Published 2016

Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

by Donti, Taraka R., Cappuccio, Gerarda, Hubert, Leroy, Neira, Juanita, Atwal, Paldeep S., Miller, Marcus J., Cardon, Aaron L., Sutton, V. Reid, Porter, Brenda E., Baumer, Fiona M., Wangler, Michael F., Sun, Qin, Emrick, Lisa T., Elsea, Sarah H.
Published 2016

A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motor tics

by Blackburn, Patrick R., Zimmermann, Michael T., Gass, Jennifer M., Harris, Kimberly G., Cousin, Margot A., Boczek, Nicole J., Ross, Owen A., Klee, Eric W., Brazis, Paul W., Van Gerpen, Jay A., Atwal, Paldeep S.
Published 2016

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

by 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.
Published 2016