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	1.	Mandibular distraction in the setting of chromosome 4q deletion. [electronic resource] by Taub, Peter J Wolfeld, Michael Cohen-Pfeffer, Jessica Mehta, Lakshmi Producer: 20120420 In: Journal of plastic, reconstructive & aesthetic surgery : JPRAS vol. 65 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening. [electronic resource] by Yang, Amy C Bier, Louise Overbey, Jessica R Cohen-Pfeffer, Jessica Desai, Khyati Desnick, Robert J Balwani, Manisha Producer: 20180213 In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Long-term safety and efficacy of sapropterin: the PKUDOS registry experience. [electronic resource] by Longo, Nicola Arnold, Georgianne L Pridjian, Gabriella Enns, Gregory M Ficicioglu, Can Parker, Susan Cohen-Pfeffer, Jessica L Producer: 20160122 In: Molecular genetics and metabolism vol. 114 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Sapropterin Dihydrochloride Mixed With Common Foods and Beverages. [electronic resource] by Jurecki, Elaina R Cunningham, Amy Mahoney, John J Tingley, Douglas Chung, Stanley James, Neil Cohen-Pfeffer, Jessica L Publication details: Topics in clinical nutrition Oct 2014 In: Topics in clinical nutrition vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Intracerebroventricular Delivery as a Safe, Long-Term Route of Drug Administration. [electronic resource] by Cohen-Pfeffer, Jessica L Gururangan, Sridharan Lester, Thomas Lim, Daniel A Shaywitz, Adam J Westphal, Manfred Slavc, Irene Producer: 20171218 In: Pediatric neurology vol. 67 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Neuropsychiatric comorbidities in adults with phenylketonuria: A retrospective cohort study. [electronic resource] by Bilder, Deborah A Kobori, Joyce A Cohen-Pfeffer, Jessica L Johnson, Erin M Jurecki, Elaina R Grant, Mitzie L Producer: 20180115 In: Molecular genetics and metabolism vol. 121 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. [electronic resource] by Cantatore-Francis, Julie L Cohen-Pfeffer, Jessica Balwani, Manisha Kahn, Philip Lazarus, Herbert M Desnick, Robert J Schaffer, Julie V Producer: 20100607 In: Archives of dermatology vol. 146 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Best practices for the use of intracerebroventricular drug delivery devices. [electronic resource] by Slavc, Irene Cohen-Pfeffer, Jessica L Gururangan, Sridharan Krauser, Jeanne Lim, Daniel A Maldaun, Marcos Schwering, Christoph Shaywitz, Adam J Westphal, Manfred Producer: 20190308 In: Molecular genetics and metabolism vol. 124 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Sapropterin dihydrochloride use in pregnant women with phenylketonuria: an interim report of the PKU MOMS sub-registry. [electronic resource] by Grange, Dorothy K Hillman, Richard E Burton, Barbara K Yano, Shoji Vockley, Jerry Fong, Chin-To Hunt, Joellen Mahoney, John J Cohen-Pfeffer, Jessica L Producer: 20141208 In: Molecular genetics and metabolism vol. 112 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. [electronic resource] by Weisfeld-Adams, James D Morrissey, Mark A Kirmse, Brian M Salveson, Bobbie R Wasserstein, Melissa P McGuire, Peter J Sunny, Sherlykutty Cohen-Pfeffer, Jessica L Yu, Chunli Caggana, Michele Diaz, George A Producer: 20100503 In: Molecular genetics and metabolism vol. 99 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis. [electronic resource] by Fietz, Michael AlSayed, Moeenaldeen Burke, Derek Cohen-Pfeffer, Jessica Cooper, Jonathan D Dvořáková, Lenka Giugliani, Roberto Izzo, Emanuela Jahnová, Helena Lukacs, Zoltan Mole, Sara E Noher de Halac, Ines Pearce, David A Poupetova, Helena Schulz, Angela Specchio, Nicola Xin, Winnie Miller, Nicole Producer: 20171207 In: Molecular genetics and metabolism vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Management Strategies for CLN2 Disease. [electronic resource] by Williams, Ruth E Adams, Heather R Blohm, Martin Cohen-Pfeffer, Jessica L de Los Reyes, Emily Denecke, Jonas Drago, Kristen Fairhurst, Charlie Frazier, Margie Guelbert, Norberto Kiss, Szilárd Kofler, Annamaria Lawson, John A Lehwald, Lenora Leung, Mary-Anne Mikhaylova, Svetlana Mink, Jonathan W Nickel, Miriam Shediac, Renée Sims, Katherine Specchio, Nicola Topcu, Meral von Löbbecke, Ina West, Andrea Zernikow, Boris Schulz, Angela Producer: 20171218 In: Pediatric neurology vol. 69 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)