Tremor in Spinocerebellar Ataxia Type 12

по Kalia, Lorraine V., Rockman‐Greenberg, Cheryl, Borys, Andrew, Lang, Anthony E.
Опубликовано в: Mov Disord Clin Pract (2014)

Caffeine is a risk factor for osteopenia of prematurity in preterm infants: a cohort study

по Ali, Ebtihal, Rockman-Greenberg, Cheryl, Moffatt, Michael, Narvey, Michael, Reed, Martin, Jiang, Depeng
Опубликовано в: BMC Pediatr (2018)

Generation and Evaluation of Isogenic iPSC as a Source of Cell Replacement Therapies in Patients with Kearns Sayre Syndrome

по Lester Sequiera, Glen, Srivastava, Abhay, Alagarsamy, Keshav Narayan, Rockman-Greenberg, Cheryl, Dhingra, Sanjiv
Опубликовано в: Cells (2021)

Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management

по Huggins, Erin, Ong, Ricardo, Rockman-Greenberg, Cheryl, Flueckinger, Lauren Bailey, Dahir, Kathryn M., Kishnani, Priya S.
Опубликовано в: Mol Genet Metab Rep (2020)

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature

по Frosk, Patrick, Chodirker, Bernard, Simard, Louise, El-Matary, Wael, Hanlon-Dearman, Ana, Schwartzentruber, Jeremy, Majewski, Jacek, Rockman-Greenberg, Cheryl
Опубликовано в: BMC Med Genet (2015)

Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice

по Costain, Gregory, Moore, Aideen M., Munroe, Lauren, Williams, Alison, Zlotnik Shaul, Randi, Rockman-Greenberg, Cheryl, Offringa, Martin, Kannu, Peter
Опубликовано в: Mol Genet Metab Rep (2017)

OR13-4 Safety Profile of Asfotase Alfa Treatment of Patients with Hypophosphatasia: A Pooled Analysis

по Whyte, Michael, Bishop, Nick, Hasan, Jawad, Hofmann, Christine, Högler, Wolfgang, Rockman-Greenberg, Cheryl, Sena, Veruska, Zhou, Shanggen, Kishnani, Priya
Опубликовано в: J Endocr Soc (2019)

Neonatal hypoglycemia and the CPT1A P479L variant in term newborns: A retrospective cohort study of Inuit newborns from Kivalliq Nunavut

по Collins, Sorcha A, Hildes-Ripstein, Gertrude Elizabeth, Thompson, James Robert, Edmunds, Sharon, Miners, Amber, Rockman-Greenberg, Cheryl, Arbour, Laura
Опубликовано в: Paediatr Child Health (2020)

SUN-529 Burden of Illness in Adults with Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry

по Kishnani, Priya, Petryk, Anna, Hoegler, Wolfgang, Linglart, Agnès, Martos-Moreno, Gabriel, Ozono, Keiichi, Fang, Shona, Rockman-Greenberg, Cheryl, Seefried, Lothar
Опубликовано в: J Endocr Soc (2019)

Mass Spectrometry Evaluation of Biomarkers in the Vitreous Fluid in Gaucher Disease Type 3 with Disease Progression Despite Long-Term Treatment

по Mhanni, Aizeddin, Boutin, Michel, Stockl, Frank, Johnston, Janine, Barnes, Jeff, Duerksen, Donald, Zimmer, Leanne, Auray-Blais, Christiane, Rockman-Greenberg, Cheryl
Опубликовано в: Diagnostics (Basel) (2020)

Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia

по Whyte, Michael P., Rockman-Greenberg, Cheryl, Ozono, Keiichi, Riese, Richard, Moseley, Scott, Melian, Agustin, Thompson, David D., Bishop, Nicholas, Hofmann, Christine
Опубликовано в: J Clin Endocrinol Metab (2016)

Does specialist physician supply affect pediatric asthma health outcomes?

по Filler, Guido, Kovesi, Tom, Bourdon, Erik, Jones, Sarah Ann, Givelichian, Laurentiu, Rockman-Greenberg, Cheryl, Gilliland, Jason, Williams, Marion, Orrbine, Elaine, Piedboeuf, Bruno
Опубликовано в: BMC Health Serv Res (2018)

Correction to: Does specialist physician supply affect pediatric asthma health outcomes?

по Filler, Guido, Kovesi, Tom, Bourdon, Erik, Jones, Sarah Ann, Givelichian, Laurentiu, Rockman-Greenberg, Cheryl, Gilliland, Jason, Williams, Marion, Orrbine, Elaine, Piedboeuf, Bruno
Опубликовано в: BMC Health Serv Res (2019)

Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry

по Högler, Wolfgang, Langman, Craig, Gomes da Silva, Hugo, Fang, Shona, Linglart, Agnès, Ozono, Keiichi, Petryk, Anna, Rockman-Greenberg, Cheryl, Seefried, Lothar, Kishnani, Priya S.
Опубликовано в: BMC Musculoskelet Disord (2019)

SUN-334 Real-World Clinical Profiles of Adults with Hypophosphatasia (HPP) from the Global HPP Registry

по Dahir, Kathryn M, Kishnani, Priya, Petryk, Anna, Högler, Wolfgang, Linglart, Agnes, Martos-Moreno, Gabriel Angel, Ozono, Keiichi, Fang, Shona, Rockman-Greenberg, Cheryl, Seefried, Lothar
Опубликовано в: J Endocr Soc (2020)

Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres

по Mhanni, Aizeddin A., Auray-Blais, Christiane, Boutin, Michel, Johnston, Alie, LeMoine, Kaye, Patterson, Jill, Aerts, Johannes M.F.G., West, Michael L., Rockman-Greenberg, Cheryl
Опубликовано в: Mol Genet Metab Rep (2020)

Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study

по Hofmann, Christine E, Harmatz, Paul, Vockley, Jerry, Högler, Wolfgang, Nakayama, Hideki, Bishop, Nick, Martos-Moreno, Gabriel Á, Moseley, Scott, Fujita, Kenji P, Liese, Johannes, Rockman-Greenberg, Cheryl
Опубликовано в: J Clin Endocrinol Metab (2019)

Association of the CPT1A p.P479L Metabolic Gene Variant With Childhood Respiratory and Other Infectious Illness in Nunavut

по Collins, Sorcha A., Edmunds, Sharon, Akearok, Gwen Healey, Thompson, J. Robert, Erickson, Anders C., Hildes-Ripstein, Elske, Miners, Amber, Somerville, Martin, Goldfarb, David M., Rockman-Greenberg, Cheryl, Arbour, Laura
Опубликовано в: Front Pediatr (2021)

Asfotase alfa therapy for children with hypophosphatasia

по Whyte, Michael P., Madson, Katherine L., Phillips, Dawn, Reeves, Amy L., McAlister, William H., Yakimoski, Amy, Mack, Karen E., Hamilton, Kim, Kagan, Kori, Fujita, Kenji P., Thompson, David D., Moseley, Scott, Odrljin, Tatjana, Rockman-Greenberg, Cheryl
Опубликовано в: JCI Insight (2016)

Social paediatrics: From ‘lip service’ to the health and well-being of Canada’s children and youth

по Daneman, Denis, Kellner, James, Bernstein, Mark, Dow, Kim, Dugas, Marc Andre, Duffy, Ciaran, Eddy, Allison, Filler, Guido, Frappier, Jean-Yves, Gilmour, Susan, Givelichian, Laurentiu, Huang, Lennox, Rockman-Greenberg, Cheryl, Shevell, Michael, Vardy, Cathy, Walti, Herve, Orrbine, Elaine, Williams, Marion
Опубликовано 2013