P156: Beyond height and growth: Impact of achondroplasia therapy on a cohort of Brazilian patients

Achondroplasia is the most common form of skeletal dysplasia. Individuals with achondroplasia may suffer from a range of serious and debilitating complications over the course of their lifetime: sleep disordered breathing, upper airway obstruction and ear, orthopedic problems, foramen magnum stenosis, among others. Recently, several drugs that modulate abnormally activated FGFR3 signaling have recently emerged, being vosoritide, a recombinant C-type natriuretic peptide (CNP) analog, the first specific drug approved for children with achondroplasia.

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Publication Details

Journal
Genetics in Medicine Open
Published
2025-01-01
DOI
https://doi.org/10.1016/j.gimo.2025.102121
Primary Topic
Connective tissue disorders research
Type
article
Field-Weighted Citation Impact
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article

P156: Beyond height and growth: Impact of achondroplasia therapy on a cohort of Brazilian patients

Charles Marques Lourenço, Ana Luísa Alcaide Thomaz, Lucas Carvalho Carrijo Madurro, Solon de Almeida Neto et al.
Genetics in Medicine Open
Connective tissue disorders research
article

P156: Beyond height and growth: Impact of achondroplasia therapy on a cohort of Brazilian patients

Charles Marques Lourenço, Ana Luísa Alcaide Thomaz, Lucas Carvalho Carrijo Madurro, Solon de Almeida Neto, Milena Theodoro
article en

Abstract

Achondroplasia is the most common form of skeletal dysplasia. Individuals with achondroplasia may suffer from a range of serious and debilitating complications over the course of their lifetime: sleep disordered breathing, upper airway obstruction and ear, orthopedic problems, foramen magnum stenosis, among others. Recently, several drugs that modulate abnormally activated FGFR3 signaling have recently emerged, being vosoritide, a recombinant C-type natriuretic peptide (CNP) analog, the first specific drug approved for children with achondroplasia.

Genetics in Medicine OpenVol. 3
Faculdade de Medicina de São José do Rio Preto (BR)
Openalex Percentile: Top 94%
Connective tissue disorders research
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