A few challenges in mucopolysaccharidosis type I

2021 Archivos Argentinos de Pediatria  
Here we describe the current challenges of mucopolysaccharidosis type I: the need for an adequate classification, establishing its relationship to therapeutic indications; an early diagnosis, from neonatal screening, its advantages and barriers, to clinical suspicion of severe and attenuated forms; spinal and eye disease care, from diagnosis to follow-up and treatment; allergic reactions caused by enzyme replacement therapy, their diagnosis and treatment. And lastly, transition to adult care.
doi:10.5546/aap.2021.eng.e193 fatcat:ar4qkvhmqbfuhfezbin4dgqzui