Amy Goldstein, MD

Papers

2019

Gustafson MA, McCormick EM, Perera L, Longley MJ, Bai R, Kong J, Dulik M, Shen L, Goldstein AC, McCormack SE, Laskin BL, Leroy BP, Ortiz-Gonzalez XR, Ellington MG, Copeland WC, Falk MJ. Gustafson MA, McCormick EM, Perera L, Longley MJ, Bai R, Kong J, Dulik M, Shen L, Goldstein AC, McCormack SE, Laskin BL, Leroy BP, Ortiz-Gonzalez XR, Ellington MG, Copeland WC, Falk MJ. PLoS One. 2019 Sep 3;14(9):e0221829. doi: 10.1371/journal.pone.0221829. eCollection 2019. PMID: 31479473

Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ. MT-ATP6 Mitochondrial Disease Variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases. Hum Mutat. 2019 Feb 14. doi: 10.1002/humu.23723. [Epub ahead of print]

2017

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.

2016

Parikh S, Karaa A, Goldstein A, Ng YS, Gorman G, Feigenbaum A, Christodoulou J, Haas R, Tarnopolsky M, Cohen BK, Dimmock D, Feyma T, Koenig MK, Mundy H, Niyazov D, Saneto RP, Wainwright MS, Wusthoff C, McFarland R, Scaglia F. : Solid organ transplantation in primary mitochondrial disease: Proceed with caution. Mol Genet Metab.  118(3): 178-184, 2016.

Lemke JR, Geider K, Helbig KL, Heyne HO, Schütz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Møller RS, Hjalgrim H, Lal D, Neubauer BA, Nürnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Strømme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sá J, Mendonça C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S: Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.  Neurology 88(23): 2171-2180, 2016.

Koenig MK, Emrick L, Karaa A, Korson M, Scaglia F, Parikh S, Goldstein A.: Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.  JAMA Neurol.  73(5): 591-594, 2016.

Ghaloul-Gonzalez L, Goldstein A, Walsh Vockley C, Dobrowolski SF, Biery A, Irani A, Ibarra J, Morton DH, Mohsen AW, Vockley J.: Mitochondrial respiratory chain disorders in the Old Order Amish population.  Mol Genet Metab.  118(4): 296-303, 2016.

Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN: Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant.  Am J Hum Genet. 16( S0002-9297): 30390-30391, 2016.

Ng YS, Alston CL, Diodato D, Morris AA, Ulrick N, Kmoch S, HouÅ¡tÄ›k 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.

2015

Prabhu D, Goldstein A, El-Khoury R, Rak M, Edmunds L, Rustin P, Vockley J, Schiff M.: Short Communication: ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics.  Mol Genet and Metab Rep.  3: 43-46, 2015.

Mirzaa GM, Conti V, Timms AE, Smyser CD, Ahmed S, Carter M, Barnett S, Hufnagel RB, Goldstein A, Narumi-Kishimoto Y, Olds C, Collins S, Johnston K, Deleuze JF, Nitschké P, Friend K, Harris C, Goetsch A, Martin B, Boyle EA, Parrini E, Mei D, Tattini L, Slavotinek A, Blair E, Barnett C, Shendure J, Chelly J, Dobyns WB, Guerrini R. : Characterization of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next generation sequencing study.  Lancet Neurol.  14(12): 1182-1195, 2015.

Hu J, Sathanoori M, Kochmar S, Azage M, Mann S, Madan-Khetarpal S, Goldstein A, Surti U.:  A novel maternally inherited 8q24.3 and a rare paternally inherited 14q23.3 CNVs in a family with neurodevelopmental disorders.  Am J Med Genet A.  167A(8): 1921-1926, 2015.

Asato, M.R., Goldstein, A.C. and Schiff, M. : Autism and inborn errors of metabolism: how much is enough?.  Dev Med Child Neurol 57: 788-789, 2015.

2013

Vandewalle J, Bauters M, Van Esch H, Belet S, Verbeeck J, Fieremans N, Holvoet M, Vento J, Spreiz A, Kotzot D, Haberlandt E, Rosenfeld J, Andrieux J, Delobel B, Dehouck MB, Devriendt K, Fryns JP, Marynen P, Goldstein A, Froyen G. : The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability.  Hum Genet.  132(10): 1177-1185, 2013.

Belachew D, Kazmerski T, Libman I, Goldstein AC, Stevens ST, Deward S, Vockley J, Sperling MA, Balest AL.:  Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures.  JIMD Rep.  11: 17-24, 2013.

2012

Girirajan S, Rosenfeld J, Coe P, Parikh S, Friedman N, Goldstein A, Filipink R, McConnell J, Angle B, Meschino W, Nezarati M, Asamoah A, Jackson K, Gowans G, Martin J, Carmany E, Stockton D, Christison A, Schnur R, Penney L, Martin D, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov D, Escobar L, El-Khechen D, Johnson K, Lebel R, Siefkas K,Ball S,  Shur N, McGuire M, Brasington C, Spence JE, Martin L,  Clericuzio C, Ballif B, Shaffer L and Eichler E: Phenotypic heterogeneity of genomic disorders and rare copy-number variants.  N Engl J Med.  367(14): 1321-1331, 2012.

2011

Kortum F, Das S, Flindt M, Morris-Rosendahl D, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh L, Wieczorek D, Uvanik G, Kutsche K, Dobyns W. : The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.   J Med Genet.  48: 396-406, 2011.

1999

Sokol MS, Gray NS, Goldstein A, Kaye WH.: Methylphenidate Treatment for bulimia nervosa associated with a cluster B personality disorder.   Int J Eat Disorder.  25(2): 233-237, 1999.

Books

Chapters

2017

Furman J and Goldstein A: "Vertigo" in Swaiman's Pediatric Neurology 6th edition Elsevier Ltd, London, UK (eds.). May 2017.

2015

Goldstein, A. : Chapter 20: MPV17-Related Hepatocerebral Mitochondrial DNA (mtDNA) Depletion Syndrome. Mitochondrial Case Studies, Academic Press, Elsevier, London, UK (eds.). Dec 2015.

Goldstein, A. : Chapter 10: Maternally Inherited (Mitochondrial) Diabetes Mitochondrial Case Studies. Mitochondrial Case Studies. Academic Press, Elsevier, London, UK, Dec 2015.

2008

Goldstein A, : "Inborn Errors of Metabolism", In: Pediatrics in a Page. Blackwell Publishing, Inc, 2008.

Goldstein A: "Inborn Errors of Metabolism" In: Pediatrics in a Page Blackwell Publishing, Inc. Second Edition, 2008. 2003.

Posters and Presentations

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.

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.

Goldstein, A. : Organ Transplant in Mitochondrial Disease: Proceed with Caution. Mitochondrial Medicine Society, Mitochondrial Medicine 2016: Seattle, WA, Poster Presentation June  2016.

Goldstein, A. Ghaloul-Gonzalez, L. Dobrowolski, S. Walsh-Vockley, C. Trani, A. Wayburn, D. Morton, H. Vockley, J. : Mitochondrial Respiratory Chain Disorders in the Old Order Amish Population. Mitochondrial Medicine: Developing New Treatments for Mitochondrial Disease. Wellcome Genome Campus, Hinxton, Cambridge, United Kingdom. Poster Presentation May 2016.

Goldstein, A. : The History of the Mitochondrial Medicine Society and Advancement of Mitochondrial Global Networks for international Collaboration. Mitochondrial Medicine: Developing New Treatments for Mitochondrial  Disease. Wellcome  Genome  Campus,  Hinxton,  Cambridge,  United Kingdom. Poster Presentation May 2016.

Wang Y, Palmfeldt  J, Gregersen N, Makhov A, Conway J, Goldstein A, Ghaloul-Gonzalez L, Alharbi H, Wang M, Zeng X, Yates N, Vockley J.:  Characterizing the molecular architecture of mitochondrial energy metabolism apparatus and its importance to clinical pathophysiology, Society for Inherited Metabolic Disorders, 39th Annual Meeting, Ponte Vedra Beach, Florida  Poster Presentation April 2016.

2015

Ulrick, N. Goldstein, A. Simons, C. Taft, R. Helman, G. Pizzino, A. Bloom, M. Vogt, J. Pysden, K. Diodato, D. Monavari, A. Bernard, G. Van Karnebeek, C. Vanderver, A.: Leukoencephalopathy with Temporal Lobe Cysts and Hearing Loss, caused be RMND1 Mutations. Annual Meeting of the Child Neurology Society, Washington, DC, Poster Presentation  October 2015.

Goldstein, A., Heuer, B., Gardner, K.: Case report: Diffuse ganglioneuromatosis of the small intestine in a 15 year-old girl with intestinal dysmotility and Neurofibromatosis-1: treatment considerations. 2015 NF Conference: Child Tumor Foundation, Monterey, CA, Poster Presentation June 2015.

Goldstein, A. Ghaloul-Gonzalez, L. Dobrowolski, S. Walsh Vockley, C. Irani, A. Wayburn,B. Holmes Morton, D. Jockley, J.: Mitochondrial Respiratory Chain Disorders in the Old Order Amish Population. Mitochondrial Medicine 2015: United Mitochondrial Disease Foundation, Washington, DC, Poster Presentation June 2015.

El-Gharbawy, A., Sebastian, J., Ghaloul-Gonzalez, L., Mroczkowski, J., Goldstein, A., Venkat, V., Dobrowolski, S., Squires, R. and Vockley, J.: LARS mutations in non- Irish travelers: an under-recognized multi-system disorder characterized by infantile hepatopathy during physiological stress.  Mitochondrial Medicine 2015: United Mitochondrial Disease Foundation, Washington, DC, Poster Presentation June 2015.

Dasyam, N., Gardner, K., Torok, K.S., Goldstein, A.C.: Increasing the index of Suspicion of Parry-Romberg Syndrome in patients with Hemifacial atrophy. 2015 NF Conference: Child Tumor Foundation, Monterey, CA, Poster Presentation June 2015.

Goldstein, A., Ghaloul-Gonzalez, L., Dobrowolski, S., Vockley, C.W., Irani, A., Rayburn, B., Holmes Morton, D., Vockley, J.,: Mitochondrial Respiratory Chain Disorders in the Old Order Amish Population. Society of Inherited Metabolic Disorders, Salt Lake City, UT, Poster Presentation March 2015.

El-Gharbawy, A., Sebastian, J., Ghaloul-Gonzalez, L.,  Mroczkowski, J.,  Goldstein, A., Venkat, V., Dobrowolski, S., Robert Squires, R. and Vockley, J.: LARS mutations in non- Irish travelers: an under-recognized multi-system disorder characterized by infantile hepatopathy during physiological stress.  Society of Inherited Metabolic Disorders, Salt Lake City, UT, Poster Presentation March 2015.

Invited Lectures

2017

Goldstein A. "Mitochondrial Disease What Is It and What are the Potential Therapies Out There?" Mitochondrial Family Meeting, UMDF New England Chapter, Aug, 2017.

2016

Goldstein A. "Mitochondrial Disorders", West Virginia University, Pediatric Noon Conference, Morgantown, West Virginia, Dec, 2016.

Goldstein A. "Current Issues in the Management of Primary Mitochondrial Disease", Invited Speaker, PA-Northeast United Mitochondrial Disease Foundation Regional Symposium, Children's Hospital Of Philadelphia, University of Pennsylvania, Philadelphia, PA, Oct, 2016.

Goldstein A. "Course Faculty", Society for Inherited Metabolic Disorders, North American Metabolic Academy, Caska, MN, Oct, 2016.

Goldstein A. "Current Issues in the Management of Primary Mitochondrial Disease",  Children's Hospital Of Philadelphia, University of Pennsylvania Mitochondria Research Affinity Group, Philadelphia, PA, Jul, 2016.

Goldstein A. NIH/NINDS "Common Data Elements for Mitochondrial Disease", Seattle, WA, Jun, 2016.

Goldstein A. "Behavioral Issues in Mitochondrial Disease", Mitochondrial Medicine 2016, Seattle, Washington, Jun, 2016.

Goldstein A. "Mitochondrial Medicine Society update 2016" Teleconference for MitoAction, Pittsburgh, PA, Apr, 2016.

Goldstein A. "Genetics of Autism Spectrum Disorder: What We Know and How to Use It",  American Academy of Neurology Annual Meeting, Vancouver, Canada. Apr, 2016, Apr, 2016.

2015

Goldstein A. "Metabolic Case Discussions Group", Society for Inherited Metabolic Disorders, North American Metabolic Academy, Vernon, NJ, Oct, 2015.

Goldstein A. "Course Faculty," Society for Inherited Metabolic Disorders, North American Metabolic Academy, Vernon, NJ, Oct, 2015.