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10 Center Dr10-Crc, Room 5-2571Bethesda, MD 20892
Phone+1 301-435-4432
Dr. Porter is on Doximity
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Education & Training
- Washington University/B-JH/SLCH ConsortiumResidency, Pediatrics, 1989 - 1992
- Washington University in St. Louis School of MedicineClass of 1989
Certifications & Licensure
- MD State Medical License 1993 - 2025
- American Board of Pediatrics Pediatrics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Clinical Trials
- Study of Smith-Lemli-Opitz Syndrome Start of enrollment: 1998 Sep 13
- Study of Inborn Errors of Cholesterol Synthesis and Related Disorders Start of enrollment: 2002 Oct 09
- Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Start of enrollment: 2003 Jul 01
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Publications & Presentations
PubMed
- Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome.Wenping Li, Melissa R Pergande, Fidel Serna-Perez, Vinayak Patel, Christopher A Crutchfield
Journal of Proteome Research. 2025-07-09 - Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale.Cristan Farmer, Monica Lewis, Nicole Farhat, Kendall P Robbins, Lisa Joseph
Journal of Child Neurology. 2025-06-17 - Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Cl...Eugen Mengel, Marc C Patterson, Rosalia M Da Riol, Mireia Del Toro, Federica Deodato
Molecular Genetics and Metabolism Reports. 2025-06-01
Press Mentions
- Item of Interest: NICHD Researchers Collaborate with Basic Scientists to Understand Rare, Fatal Childhood Neurological DisorderSeptember 28th, 2022
- New Drug for Niemann-Pick Disease Type C1 Appears Safe, EffectiveAugust 11th, 2017
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