Multicentric Study on the Diagnostic of Neuromuscular Diseases in Children with High Creatinine Phosphokinase Levels

Multicentric Study on the Diagnostic of Neuromuscular Diseases in Children with High Creatinine Phosphokinase Levels

Background: Neuromuscular diseases (NMDs) are rare, predominantly hereditary, with progressive course disorders. Furthermore, diagnosis can be delayed by years after symptoms emerge, resulting in missed opportunities for modifying disease progression, specific therapeutic approaches, and counseling....

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Bibliographic Details
Main Authors: Cláudia Monteiro, Cristina Garrido, Ângela Pereira, Andreia Dias, Mariana Costa, Catarina Magalhães, Manuela Ferreira, Miguel Costa, Manuela Santos
Format: Article
Language:English
Published: MDPI AG 2024-11-01
Series:Children
Subjects:
neuromuscular diseases
creatine phosphokinase (CK)
screening
dystrophinopathies
Online Access:https://www.mdpi.com/2227-9067/11/12/1462
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