Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads
to difficulties with movement and, eventually, to the need for assisted ventilation and …

Newborn screening: a review of history, recent advancements,... : Current Opinion in Pediatrics
Newborn screening: a review of history, recent advancements, and future perspectives in the …

Current therapies for Duchenne muscular dystrophy (DMD) use phosphorodiamidate
morpholino oligomers (PMO) to induce exon skipping in the dystrophin pre-mRNA, enabling …

Abstract Introduction/Aims With current and anticipated disease‐modifying treatments,
including gene therapy, an early diagnosis for Duchenne muscular dystrophy (DMD) is …

Newborn screening aims to achieve early presymptomatic diagnosis of treatable disorders
for which timely intervention is critical to improve the outcome. Many of the conditions …

Advancements in therapies for Duchenne muscular dystrophy (DMD) have made diagnosis
within the newborn period a high priority. We undertook a consortia approach to advance …

Abstract Introduction Newborn screening for Duchenne muscular dystrophy can be
performed via a first-tier creatine kinase-MM measurement followed by reflex testing to …

Abstract Background Duchenne Muscular Dystrophy (DMD) is a rare disorder caused by
mutations in the dystrophin gene. Recent availability in treatment for DMD raised the need of …

Creatine phosphokinase (CPK), also known as creatine kinase (CK), is the enzyme that
catalyzes the reaction of creatine and adenosine triphosphate (ATP) to phosphocreatine …

Objectives to evaluate the accuracy of the creatine kinase test in neonatal screening for
Duchenne Muscular Dystrophy. Methods: Investigations were carried out in six databases …