Existe una multitud de enfermedades metabólicas caracterizadas por la presencia de facies tosca. La mayoría de ellas son enfermedades por acúmulo y presentan un fenotipo progresivo que va haciéndose más evidente con la edad, por lo que el diagnóstico temprano es dificultoso. La mejor estrategia es implementar un screening dirigido, utilizando los GAG de forma sistemática aunque la sospecha sea baja.
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1.
Galimberti C, Madeo A, Di Rocco M, Fiumara A. Mucopolysaccharidoses: early diagnostic signs in infants and children. Italian Journal of Pediatrics [Internet]. 2018 Nov 16 [cited 2023 Jan 22];44(2):133. Available from: https://doi.org/10.1186/s13052-018-0550-5
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1.
Escolar M, Bradshaw J, Byers VT, Giugliani R, Golightly L, Lourenço CM, et al. Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III. J inborn errors metab screen [Internet]. 2020 [cited 2023 Jan 22];8:e20200002. Available from: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100401&tlng=en
MPS I (Síndrome de Hurler-Scheie).
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1.
home [Internet]. [cited 2023 Jan 22]. MPS I Disease Spectrum | Patients. Available from: https://www.mps1disease.com/patients/about/disease-spectrum
MPS II (Síndrome de Hunter).
MPS III (Sanfilippo).
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