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alpha-L-Iduronidase Deficiencies

MedGen UID:
438137
•Concept ID:
C2713321
•
Disease or Syndrome
Synonyms: alpha L Iduronidase Deficiency; alpha-L-Iduronidase Deficiency

Professional guidelines

PubMed

Newborn screening of mucopolysaccharidosis type I.
Burlina AB, Gragnaniello V
Crit Rev Clin Lab Sci 2022 Jun;59(4):257-277. Epub 2022 Jan 17 doi: 10.1080/10408363.2021.2021846. PMID: 35037566
Mucopolysaccharidosis III: Molecular basis and treatment.
Spahiu L, Behluli E, Peterlin B, Nefic H, Hadziselimovic R, Liehr T, Temaj G
Pediatr Endocrinol Diabetes Metab 2021;27(3):201-208. doi: 10.5114/pedm.2021.109270. PMID: 34743503Free PMC Article
Newborn screening in mucopolysaccharidoses.
Donati MA, Pasquini E, Spada M, Polo G, Burlina A
Ital J Pediatr 2018 Nov 16;44(Suppl 2):126. doi: 10.1186/s13052-018-0552-3. PMID: 30442156Free PMC Article

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