Kuntal Sen

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

Bigna K. Bölsterli, Eugen Boltshauser, Luigi Palmieri et al. · Nutrients · 2022 · 28 citations · Full text

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

Jessica Priestley, Lisa M. Pace, Kuntal Sen et al. · Molecular Genetics and Metabolism Reports · 2022 · 17 citations · Full text

Biochemistry, Recognizable Biochemical Signature, Neurology +4

Bi-allelic variants in PNPLA6 possibly associated with Parkinsonian features in addition to spastic paraplegia phenotype

Kuntal Sen, Melesilika Finau, Pritha Ghosh · Journal of Neurology · 2020 · 15 citations

Spastic Paraplegia Phenotype, Allelic Variant, Genetics +5

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

Kuntal Sen, Shagun Kaur, David W. Stockton et al. · American Journal of Perinatology Reports · 2021 · 13 citations · Full text

Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)

Kuntal Sen, Lindsay C. Burrage, Kimberly A. Chapman et al. · Genetics in Medicine · 2022 · 11 citations

Organ Procurement, Transplantation, Solid Organ Transplantation +5