Tag: sumit parikh

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Pioneering Study Aims to Bring Light to the Shadows Around Pearson Syndrome

First-ever natural history study of a devastating mitochondrial disease

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October 9, 2017/Genomic Medicine

PTEN Hamartoma Tumor Syndrome: Why Optimal Care Needs to Be ‘All in the Family’

It’s multisystemic across the life span, but neuro features predominate early

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Mitochondrial Disease: Preventive Care Guidance Is Available at Last

New consensus statement aims to minimize practice variation

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Managing Mitochondrial Diseases: Elusive Standardization May Be at Hand

New guidelines will build on steady progress toward care consistency

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November 21, 2016/Neurosciences/Case Study

NMDAR Antibodies Guide Therapy for Encephalitis in a Young Child

Insights into an increasingly recognized cause of encephalitis

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Eye Gaze-Based Autism Risk Index Shows Promise as First Objective Diagnostic Tool

Supplements clinical observation, may monitor therapy response

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April 28, 2016/Neurosciences

Could Low-Dose Ketamine Help Patients with Rett Syndrome?

Collaborative clinical trial to provide first assessment

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Complex CDKL5-Related Disease Cases Require Coordinated Care

Centers of excellence conduct research, optimize treatment

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