Impact of discontinuing 5 years of enzyme replacement treatment in a cohort of 6 adults with hypophosphatasia: A case series

por Rockman-Greenberg, Cheryl, Josse, Robert, Francis, Mira, Mhanni, Aziz
Publicado 2022

Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to homozygous PC c.1828G > A mutations

por Mhanni, Aizeddin A., Rockman‐Greenberg, Cheryl, Ryner, Lawrence, Bunge, Martin
Publicado 2021

An insight into the mechanisms of COVID-19, SARS-CoV2 infection severity concerning β-cell survival and cardiovascular conditions in diabetic patients

por Srivastava, Abhay, Rockman-Greenberg, Cheryl, Sareen, Niketa, Lionetti, Vincenzo, Dhingra, Sanjiv
Publicado 2022

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

por Ali, Ebtihal, Rockman-Greenberg, Cheryl, Moffatt, Michael, Narvey, Michael, Reed, Martin, Jiang, Depeng
Publicado 2018

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

por Lester Sequiera, Glen, Srivastava, Abhay, Alagarsamy, Keshav Narayan, Rockman-Greenberg, Cheryl, Dhingra, Sanjiv
Publicado 2021

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

por Huggins, Erin, Ong, Ricardo, Rockman-Greenberg, Cheryl, Flueckinger, Lauren Bailey, Dahir, Kathryn M., Kishnani, Priya S.
Publicado 2020

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

por Frosk, Patrick, Chodirker, Bernard, Simard, Louise, El-Matary, Wael, Hanlon-Dearman, Ana, Schwartzentruber, Jeremy, Majewski, Jacek, Rockman-Greenberg, Cheryl
Publicado 2015

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

por Costain, Gregory, Moore, Aideen M., Munroe, Lauren, Williams, Alison, Zlotnik Shaul, Randi, Rockman-Greenberg, Cheryl, Offringa, Martin, Kannu, Peter
Publicado 2017

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

por Whyte, Michael, Bishop, Nick, Hasan, Jawad, Hofmann, Christine, Högler, Wolfgang, Rockman-Greenberg, Cheryl, Sena, Veruska, Zhou, Shanggen, Kishnani, Priya
Publicado 2019

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

por Kishnani, Priya, Petryk, Anna, Hoegler, Wolfgang, Linglart, Agnès, Martos-Moreno, Gabriel, Ozono, Keiichi, Fang, Shona, Rockman-Greenberg, Cheryl, Seefried, Lothar
Publicado 2019

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

por Mhanni, Aizeddin, Boutin, Michel, Stockl, Frank, Johnston, Janine, Barnes, Jeff, Duerksen, Donald, Zimmer, Leanne, Auray-Blais, Christiane, Rockman-Greenberg, Cheryl
Publicado 2020

A novel WFS1 variant associated with isolated congenital cataracts

por Krutish, Angela, Elmore, James, Ilse, Werner, Johnston, Janine L., Hittel, Dustin, Kerr, Marina, Khan, Aneal, Rockman-Greenberg, Cheryl, Mhanni, Aizeddin A.
Publicado 2023

Does specialist physician supply affect pediatric asthma health outcomes?

por Filler, Guido, Kovesi, Tom, Bourdon, Erik, Jones, Sarah Ann, Givelichian, Laurentiu, Rockman-Greenberg, Cheryl, Gilliland, Jason, Williams, Marion, Orrbine, Elaine, Piedboeuf, Bruno
Publicado 2018

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

por Filler, Guido, Kovesi, Tom, Bourdon, Erik, Jones, Sarah Ann, Givelichian, Laurentiu, Rockman-Greenberg, Cheryl, Gilliland, Jason, Williams, Marion, Orrbine, Elaine, Piedboeuf, Bruno
Publicado 2019

Growth and disease burden in children with hypophosphatasia

por Högler, Wolfgang, Linglart, Agnès, Petryk, Anna, Kishnani, Priya S, Seefried, Lothar, Fang, Shona, Rockman-Greenberg, Cheryl, Ozono, Keiichi, Dahir, Kathryn, Martos-Moreno, Gabriel Ángel
Publicado 2023

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

por Högler, Wolfgang, Langman, Craig, Gomes da Silva, Hugo, Fang, Shona, Linglart, Agnès, Ozono, Keiichi, Petryk, Anna, Rockman-Greenberg, Cheryl, Seefried, Lothar, Kishnani, Priya S.
Publicado 2019

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

por Dahir, Kathryn M, Kishnani, Priya, Petryk, Anna, Högler, Wolfgang, Linglart, Agnes, Martos-Moreno, Gabriel Angel, Ozono, Keiichi, Fang, Shona, Rockman-Greenberg, Cheryl, Seefried, Lothar
Publicado 2020

Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry

por Dahir, Kathryn M., Seefried, Lothar, Kishnani, Priya S., Petryk, Anna, Högler, Wolfgang, Linglart, Agnès, Martos-Moreno, Gabriel Ángel, Ozono, Keiichi, Fang, Shona, Rockman-Greenberg, Cheryl
Publicado 2022

Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Glo...

por Dahir, Kathryn M., Kishnani, Priya S., Martos-Moreno, Gabriel Ángel, Linglart, Agnès, Petryk, Anna, Rockman-Greenberg, Cheryl, Martel, Samantha E., Ozono, Keiichi, Högler, Wolfgang, Seefried, Lothar
Publicado 2023

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

por 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
Publicado 2020