Kuntal Sen

发表

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

Anne R. Pariser, A. Gropman, A. Pariser, 2022, Therapeutic Innovation & Regulatory Science.

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

A. Gropman, C. Brantner, L. Wong, 2021, Frontiers in Cell and Developmental Biology.

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

A. Gropman, Kuntal Sen, Jennifer L. Harmon, 2021, International journal of neonatal screening.

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

Elizabeth M. Wells, A. Gropman, A. Hahn, 2021, Journal of Neurology.

Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother.

A. Gropman, G. Grahame, J. Bedoyan, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Mild Persistent Isolated Hypermethioninemia Identified through Newborn Screening in Michigan

A. Bannick, R. Conway, R. Colombo, 2019, Journal of Pediatric Genetics.

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

H. Prokisch, J. Hentschel, A. Gropman, 2022, Nutrients.

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

D. Stockton, J. Roberson, Kuntal Sen, 2021, AJP reports.

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

A. Gropman, M. Whitehead, Kuntal Sen, 2020, Translational science of rare diseases.

Fifteen years of urea cycle disorders brain research: Looking back, looking forward.

A. Gropman, L. Caldovic, M. Whitehead, 2021, Analytical biochemistry.

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

A. Gropman, Afrouz A. Anderson, M. Whitehead, 2021, Frontiers in Neurology.

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

B. Graham, L. Burrage, G. Mazariegos, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood–Expanding the Phenotype of a Recently Reported Condition

A. Huq, R. Agarwal, Melissa A. Hicks, 2019, Neuropediatrics.

When Zebras Collide: Differentiating Rare Causes of Recurrent Posterior Circulation Infarcts in a Child

J. Murnick, Abigail Bosk, M. Pearl, 2023, Pediatric Neurology.

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

R. Ganetzky, I. Helbig, A. Gropman, 2022, Molecular genetics and metabolism reports.

Neuromonitoring in Rare Disorders of Metabolism

A. Gropman, Kuntal Sen, Carlos Castillo-Pinto, 2021, The Yale journal of biology and medicine.

Mitochondrial Disorders of the Nervous System: A Review

A. Huq, R. Agarwal, Kuntal Sen, 2019, Clinical pediatrics.

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

P. Ghosh, Kuntal Sen, Melesilika Finau, 2020, Journal of Neurology.

Differential DNA Methylation Patterns in Patients with Epilepsy due to Malformations of Cortical Development: A Pilot Study

S. Sundaram, R. Gadkari, R. Agarwal, 2019, Neurology India.

Expanding Phenotypic Spectrum of Cerebral Aspartate–Glutamate Carrier Isoform 1 (AGC1) Deficiency

Kuntal Sen, B. Pfeiffer, Shagun Kaur, 2019, Neuropediatrics.

In-Hospital Mortality From Cerebral Edema in MSUD During Newborn Screening Era: What Are We Missing and What More Can We Do?

A. Gropman, Kuntal Sen, D. Harrar, 2022, Pediatric Neurology.