Showing results (11-20 of 96) with videos related to
Sort By:
Pageof 10
Handbook of Clinical Neurology|February 22, 2023
Currently available therapies in mitochondrial diseaseCornelia Kornblum, Costanza Lamperti, Sumit ParikhJIMD Reports|November 18, 2020
Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospectsJirair K Bedoyan, Rosemary Hage, Ha Kyung Shin, et al.Pediatric Neurology|May 13, 2009
Vitamins, not surgery: spinal fluid testing in hemispheric epilepsySumit Parikh, Keith Hyland, Deepak K LachhwaniJournal of Pediatric Hematology/Oncology|June 14, 2022
Case Report: 2-Year-old With Wilms Tumors, Familial Heterozygous DIS3L2 Mutation, and Cutis Marmorata Telangiectatica CongenitaCameron D Friedman, Suzanne DeBrosse, Anna Mitchell, et al.Molecular Genetics and Metabolism|December 4, 2021
Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomesElizabeth Reynolds, Matthew Byrne, Rebecca Ganetzky, et al.Haemophilia : the Official Journal of the World Federation of Hemophilia|April 4, 2020
The Australian experience with switching to extended half-life factor VIII and IX concentrates: On behalf of the Australian Haemophilia Centre Directors' OrganisationYvonne Brennan, Sumit Parikh, Simon McRae, et al.Ophthalmic Genetics|April 1, 2016
Ophthalmological findings in 74 patients with mitochondrial diseaseCheng-Cheng Zhu, Elias I Traboulsi, Sumit ParikhSurvey of Ophthalmology|February 21, 2021
Mitochondrial DNA A3243G variant-associated retinopathy: Current perspectives and clinical implicationsRazek Georges Coussa, Sumit Parikh, Elias I TraboulsiEuropean Heart Journal. Case Reports|August 12, 2024
Case report: severe hypertrophic cardiomyopathy in a female neonate caused by de novo variant in NDUFB11Javeria Tariq, Madeleine Townsend, Sumit Parikh, et al.Epileptic Disorders : International Epilepsy Journal with Videotape|June 9, 2023
Epilepsy with eyelid myoclonia in the setting of de novo pathogenic variant in ATP1A3Maksim Parfyonov, Alina Ivaniuk, Sumit Parikh, et al.Pageof 10