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Office
10 Center Dr
10-Crc, Room 5-2571
Bethesda, MD 20892Phone+1 301-435-4432
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
- 186 citationsA sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasmaXuntian Jiang, Rohini Sidhu, Forbes D. Porter, Nicole M. Yanjanin, Anneliese O. Speak
Journal of Lipid Research. 2011-07-01 - 30 citationsEndocrine Conditions and COVID-19.Skand Shekhar, Rachel Wurth, Crystal Kamilaris, Graeme Eisenhofer, Francisco J Barrera
Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme. 2020-06-08 - 8 citationsX-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease modelMark D. Levin, Simona Bianconi, Andrew Smith, Niamh X. Cawley, An Dang Do
Genetics in Medicine. 2021-05-28
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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