Multimodal imaging in urea cycle-related neurological disease – What can imaging after hyperammonemia teach us?

por Sen, Kuntal, Whitehead, Matthew T., Gropman, Andrea L.
Publicado 2020

Select Ethical Aspects of Next-Generation Sequencing Tests for Newborn Screening and Diagnostic Evaluation of Critically Ill Newborns

por Sen, Kuntal, Harmon, Jennifer, Gropman, Andrea L.
Publicado 2021

Neuromonitoring in Rare Disorders of Metabolism

por Castillo-Pinto, Carlos, Sen, Kuntal, Gropman, Andrea
Publicado 2021

Review of Multi-Modal Imaging in Urea Cycle Disorders: The Old, the New, the Borrowed, and the Blue

por Sen, Kuntal, Anderson, Afrouz A., Whitehead, Matthew T., Gropman, Andrea L.
Publicado 2021

Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy

por Sen, Kuntal, Kaur, Shagun, Stockton, David W., Nyhuis, Mary, Roberson, Jacquelyn
Publicado 2021

Management considerations for stroke-like episodes in MELAS with concurrent COVID-19 infection

por Sen, Kuntal, Harrar, Dana, Hahn, Andrea, Wells, Elizabeth M., Gropman, Andrea L.
Publicado 2021

Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome

por Uittenbogaard, Martine, Sen, Kuntal, Whitehead, Matthew, Brantner, Christine A., Wang, Yue, Wong, Lee-Jun, Gropman, Andrea, Chiaramello, Anne
Publicado 2021

Global Regulatory and Public Health Initiatives to Advance Pediatric Drug Development for Rare Diseases

por Epps, Carla, Bax, Ralph, Croker, Alysha, Green, Dionna, Gropman, Andrea, Klein, Agnes V., Landry, Hannah, Pariser, Anne, Rosenman, Marc, Sakiyama, Michiyo, Sato, Junko, Sen, Kuntal, Stone, Monique, Takeuchi, Fumi, Davis, Jonathan M.
Publicado 2022

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

por Priestley, Jessica R.C., Pace, Lisa M., Sen, Kuntal, Aggarwal, Anjali, Alves, Cesar Augusto P.F., Campbell, Ian M., Cuddapah, Sanmati R., Engelhardt, Nicole M., Eskandar, Marina, Jolín García, Paloma C., Gropman, Andrea, Helbig, Ingo, Hong, Xinying, Gowda, Vykuntaraju K., Lusk, Laina, Trapane, Pamela, Srinivasan, Varunvenkat M., Suwannarat, Pim, Ganetzky, Rebecca D.
Publicado 2022

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

por Bölsterli, Bigna K., Boltshauser, Eugen, Palmieri, Luigi, Spenger, Johannes, Brunner-Krainz, Michaela, Distelmaier, Felix, Freisinger, Peter, Geis, Tobias, Gropman, Andrea L., Häberle, Johannes, Hentschel, Julia, Jeandidier, Bruno, Karall, Daniela, Keren, Boris, Klabunde-Cherwon, Annick, Konstantopoulou, Vassiliki, Kottke, Raimund, Lasorsa, Francesco M., Makowski, Christine, Mignot, Cyril, O’Gorman Tuura, Ruth, Porcelli, Vito, Santer, René, Sen, Kuntal, Steinbrücker, Katja, Syrbe, Steffen, Wagner, Matias, Ziegler, Andreas, Zöggeler, Thomas, Mayr, Johannes A., Prokisch, Holger, Wortmann, Saskia B.
Publicado 2022