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Published in 2022 at "Medicina"
DOI: 10.3390/medicina58010097
Abstract: Background and Objectives: Diagnostic delay is common in attenuated Mucopolysaccharidosis Type I (MPS Ia) due to the rarity of the disease and the variability of clinical presentation. Short stature and impaired growth velocity are frequent…
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Keywords:
paediatric endocrinologists;
growth;
mucopolysaccharidosis;
short stature ... See more keywords