IDUA, alpha-L-iduronidase, 3425

N. diseases: 258; N. variants: 110
Disease: Mucopolysaccharidosis, MPS-IV-A ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.060 Biomarker disease BEFREE Using defined age ranges and treatment naïve patient samples we confirmed an increase in glycosylated hydroxylysines in MPS I and in adult MPS IVA. 31452203 2020
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.060 Biomarker disease BEFREE The false negative rate of urinary DMB ratio using the dye-based method for these 13 patients was 31%, including one MPS I, two MPS IIIB, and one MPS IVA. 31590383 2019
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.060 Biomarker disease BEFREE Higher mean z scores were present in patients with MPS IVA and VI when compared to MPS I and II. 30136169 2019
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.060 Biomarker disease BEFREE Thoracolumbar spinal surgery is most commonly performed in MPS I. Preoperative neurological compromise associated with thoracolumbar kyphosis was reported only in MPS IV and VI, where it was associated with factors other than the degree of kyphosis. 28538597 2017
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.060 GeneticVariation disease BEFREE MPS II was the most common form of MPS, comprising 47.4% of all MPS cases diagnosed, followed by MPS IVA (26.8%) and MPS I (16.3%). 26740238 2016
CUI: C0086651
Disease: Mucopolysaccharidosis, MPS-IV-A
Mucopolysaccharidosis, MPS-IV-A 		0.060 GeneticVariation disease BEFREE Skeletal abnormalities (for MPS IVA and MPS VI), joint contractures (for MPS II), and typical facial features (for MPS I) were the most frequently reported first signs/symptoms. 18546277 2008