0000000000867728

AUTHOR

Adriana M. Montaño

showing 2 related works from this author

Clinical course of sly syndrome (mucopolysaccharidosis type VII).

2016

WOS: 000377110800007

0301 basic medicineAdultMalePediatricsmedicine.medical_specialtyAdolescentMucopolysaccharidosisSly syndromeHepatosplenomegalyMetabolic disordersMucopolysaccharidosis VIIMedical and Health Sciences03 medical and health sciencesYoung Adult0302 clinical medicineHydrops fetalisSurveys and QuestionnairesmedicineGeneticsHumansMedical history1506Clinical geneticsFamily historyPreschoolChildGenetics (clinical)GlucuronidaseGenetics & Hereditybusiness.industryGenotype-Phenotype CorrelationsMucopolysaccharidosis VIIInfantEnzyme replacement therapyBiological Sciencesmedicine.diseaseLysosomal Storage Diseases030104 developmental biologyPhenotypeClinical genetics Genetics Metabolic disordersChild PreschoolFemalemedicine.symptombusiness030217 neurology & neurosurgeryMPS ; lysosomal storage disease ; β-glucuronidase
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Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses.

2004

Glycosaminoglycans are accumulated in both mucopolysaccharidoses (MPS) and mucolipidoses (ML). MPS I, II, III and VII and ML II and ML III patients cannot properly degrade heparan sulphate (HS). In spite of the importance of HS storage in the metabolic pathway in these diseases, blood and urine HS levels have not been determined systematically using a simple and economical method. Using a new ELISA method using anti-HS antibodies, HS concentrations in blood and urine were determined in MPS and ML II and ML III patients. HS concentrations were determined in 156 plasma samples from MPS I (n = 23), MPS II (n = 26), MPS III (n = 24), MPS IV (n = 62), MPS VI (n = 5), MPS VII (n = 5), ML II (n = …

congenital hereditary and neonatal diseases and abnormalitiesAdolescentMucopolysaccharidosisEnzyme-Linked Immunosorbent AssayUrineSignificant elevationGlycosaminoglycanchemistry.chemical_compoundMucolipidosesGeneticsmedicineHumansElisa methodskin and connective tissue diseasesChildGenetics (clinical)Chromatography High Pressure LiquidGlycosaminoglycansDose-Response Relationship DrugChemistryHeparinInfant Newbornnutritional and metabolic diseasesMucolipidosesInfantHeparan sulfateMucopolysaccharidosesmedicine.diseaseMolecular biologyDose–response relationshipBiochemistryChemistry ClinicalChild PreschoolHeparitin SulfateBiomarkersJournal of inherited metabolic disease
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