Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Chil...
Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities
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Switzerland: MDPI AG
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Language
English
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Publisher
Switzerland: MDPI AG
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Contents
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 findings in MPS Ia, but they rarely raise suspicion as paediatric endocrinologists are generally poorly trained to detect earlier and mi...
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Proposal of an Algorithm to Early Detect Attenuated Type I Mucopolysaccharidosis (MPS Ia) among Children with Growth Abnormalities
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TN_cdi_doaj_primary_oai_doaj_org_article_904a578b1c56444e9b729a4d0dde81d4
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_904a578b1c56444e9b729a4d0dde81d4
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ISSN
1648-9144,1010-660X
E-ISSN
1648-9144
DOI
10.3390/medicina58010097
