Amy C. Goldstein, M.D.

faculty photo
Associate Professor of Clinical Pediatrics
Department: Pediatrics

Contact information
Children’s Hospital of Philadelphia
Division of Human Genetics
Department of Pediatrics
3615 Civic Center Blvd.
Philadelphia, PA 19104
Education:
B.S. (Biology, Psychology)
Syracuse University, 1988.
M.D. (Medicine)
University of Pittsburgh , 1996.
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Selected Publications

Areeg El-Gharbawy, Amy Goldstein.: Mitochondrial Fatty Acid Oxidation Disorders Associated with Cardiac Disease. 259 Current Pathobiology Reports. Springer Link, 5(3): 259-270, September 2017 Notes: doi: 10.1007/s40139-017-0148-4.

Gillingham MB, Heitner SB, Martin J, Rose S, Goldstein A, El-Gharbawy AH, Deward S, Lasarev MR, Pollaro J, DeLany JP, Burchill LJ, Goodpaster B, Shoemaker J, Matern D, Harding CO, Vockley J.: Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial. J Inherit Metab Dis. September 2017.

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF: Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med Jul 2017.

McCormack SE, Xiao R, Kilbaugh TJ, Karlsson M, Ganetzky RD, Cunningham ZZ, Goldstein A, Falk MJ, Damrauer SM.: Hospitalizations for mitochondrial disease across the lifespan in the U.S. Mol Genet Metab. 121(2): 119-126, June 2017 Notes: doi: 10.1016/j.ymgme.2017.04.007. Epub 2017 Apr 19.

Ulrick N, Goldstein A, Simons C, Taft RJ, Helman G, Pizzino A, Bloom M, Vogt J, Pysden K, Diodato D, Martinelli D, Monavari A, Buhas D, van Karnebeek CDM, Dorboz I, Boespflug-Tanguy O, Rodriguez D, Tétreault M, Majewski J, Bernard G, Ng YS, Care4Rare Canada Consortium, McFarland R, Vanderver A,: RMND1 related Leukoencephalopathy with temporal lobe cysts and hearing loss – another Mendelian mimicker of congenital CMV infection. Pediatr Neurol. 66: 59-62, Jan 2017.

Amy Goldstein & Jerry Vockley: Clinical trials examining treatments for inborn errors of amino acid metabolism. Expert Opinion on Orphan Drugs. Taylor & Francis Online, 5(2): 153-164, Dec 2016 Notes: http://dx.doi.org/10.1080/21678707.2017.1275565.

Goldstein, A and Vockley, J. : Clinical trials examining treatments for inborn errors of amino acid metabolism. Expert Opinion on Orphan Drugs 5(2): 153-164, Dec 2016.

Ng YS, Alston CL, Diodato D, Morris AA, Ulrick N, Kmoch S, Houštěk J, Martinelli D, Haghighi A, Atiq M, Gamero MA, Garcia-Martinez E, Kratochvílová H, Santra S, Brown RM, Brown GK, Ragge N, Monavari A, Pysden K, Ravn K, Casey JP, Khan A, Chakrapani A, Vassallo G, Simons C, McKeever K, O'Sullivan S, Childs AM, Østergaard E, Vanderver A, Goldstein A, Vogt J, Taylor RW, McFarland R: The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. J Med Genet 53(1): 768-775, Nov 2016.

Acord S, Goldstein A, Asato M, Zuccoli G. : Infection unmasking symptoms of underlying POLG-related disease. Child Neurology Society, Vancouver, British Columbia, Canada, Poster Presentation October 2016.

Jindal A, Thakkar K, Vento J, Goldstein A. : Neuropsychological outcomes in pediatric patients with genetically confirmed episodic ataxia type 2. Child Neurology Society, Vancouver, British Columbia, Canada, Poster Presentation October 2016.

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Last updated: 11/14/2017
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