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mucolipidosis II
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
GNPTAB
GNPTG
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
DMAP1-binding domain
protein localization to lysosome
Stealth protein CR1, conserved region 1
Stealth protein CR3, conserved region 3
Stealth protein CR4, conserved region 4
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Most Correlated Studies
OMIM - Congenital disorder
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Literature
Most Relevant Literature
Secondary Hyperparathyroidism in Children with Mucolipidosis Type II (I-Cell Disease): Irish Experie…
Mucolipidosis type II and type III: a systematic review of 843 published cases.
Tracheal and lower airway changes in a patient with mucolipidosis type II.
Lysosomal enzyme analysis of mucolipidosis type II α/β and type III α/β in two Chinese pedigrees].
Transgenic inhibition of interleukin-6 trans-signaling does not prevent skeletal pathologies in muco…
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Clinical Trials
Most Relevant Clinical Trials
Biomarker for Mucolipidosis Disorder Type I, II, III, IV (BioML)
Longitudinal Studies of the Glycoproteinoses
Stem Cell Transplantation for Hurler
HSCT for High Risk Inherited Inborn Errors
A Trial of a Single ProHema-CB Product Transplant in Pediatric Patients With Inherited Metabolic Dis…
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