Mucolipidosis type II and type III: a systematic review of 843 published cases.

doi:10.1038/s41436-021-01244-4

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Article

Mucolipidosis type II and type III: a systematic review of 843 published cases.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2021

Dogterom Emma J, Wagenmakers Margreet A E M, Wilke Martina, Demirdas Serwet, Muschol Nicole M, Pohl Sandra, Meijden Jan C van der, Rizopoulos Dimitris, Ploeg Ans T van der, Oussoren Esmée

Abstract excerpt

PURPOSE: Mucolipidosis (ML) II, MLIII alpha/beta, and MLIII gamma are rare autosomal recessive lysosomal storage disorders. Data on the natural course of the diseases are scarce. These data are important for counseling, therapies development, and improvement of outcome. The aim of this study is to gain knowledge on the natural history of ML by obtaining data on survival, symptom onset, presenting symptoms,...

Topics

Genetic Association Studies
Humans
Mucolipidoses
Phenotype
Transferases (Other Substituted Phosphate Groups)

Source

Open in PubMed

Identifiers

PMID: 34172897
DOI: 10.1038/s41436-021-01244-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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