MON-493 A Unique Case of Severe Osteogenesis Imperfecta Due to a Novel Heterozygous Mutation in COL1A1 Gene with Overlapping Hypophosphatasia Phenotype

por Bakhach, Marwan, Ryabets-Lienhard, Anna, Pitukcheewanont, Pisit
Publicado 2019

SUN-LB66 Oral Risedronate Treatment in Children With Osteogenesis Imperfecta

por Nguyen, Antoine T, Pitukcheewanont, Pisit, Ryabets-Lienhard, Anna
Publicado 2020

FRI692 Severe Hyperparathyroidism And Nephrolithiasis In An Adolescent Male Due To CDC73 Positive Parathyroid Carcinoma

por Nguyen, Jennifer T, Geller, David Harry, Ryabets-Lienhard, Anna
Publicado 2023

MON-512 A De Novo Frameshift Mutation of FAM111B Gene Resulting in Progressive Osseous Heteroplasia in an African American Boy: First Case Report

por Panjawatanan, Panadeekarn, Ryabets-Lienhard, Anna, Bakhach, Marwan, Pitukcheewanont, Pisit
Publicado 2019

SAT-LB68 A Rare De Novo Mutation in LRP5 Gene in an Adolescent Female With Juvenile Onset Primary Osteoporosis

por Shum, Betty J, Cheung, Clement C, Ryabets-Lienhard, Anna
Publicado 2020

Symptomatic Rebound Hypercalcemia After Denosumab Discontinuation in a Pediatric Patient With Cherubism

por Marpuri, Ian, Cheung, Clement C, Moke, Diana J, Ryabets-Lienhard, Anna
Publicado 2021

Efficacy of growth hormone replacement on anthropometric outcomes, obesity, and lipids in children with optic nerve hypoplasia and growth hormone deficiency

por Stewart, Carly, Garcia-Filion, Pamela, Fink, Cassandra, Ryabets-Lienhard, Anna, Geffner, Mitchell E., Borchert, Mark
Publicado 2016

A Unique Case of Aggressive Central Giant Cell Granuloma in a 10-Year-Old Boy With 16p13.11 Microdeletion Syndrome

por Shum, Betty J., Kim, Mimi S., Kondra, Katelyn, Hammoudeh, Jeffrey A., Strom, Charles, Ryabets-Lienhard, Anna
Publicado 2022