Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study.
Sláma, Tomáš
Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study. [electronic resource] - Journal of inherited metabolic disease 03 2019 - 295-302 p. digital
Publication Type: Journal Article
1573-2665
10.1002/jimd.12010 doi
Adolescent
Adult
Biomarkers
Child
Child, Preschool
Cohort Studies
Cross-Sectional Studies
Delayed Diagnosis
Drug Development
Female
Humans
Infant
Infant, Newborn
Lysosomal Storage Diseases--diagnosis
Male
Middle Aged
Mutation
Phenotype
Radiography
Review Literature as Topic
Survival Analysis
Young Adult
Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study. [electronic resource] - Journal of inherited metabolic disease 03 2019 - 295-302 p. digital
Publication Type: Journal Article
1573-2665
10.1002/jimd.12010 doi
Adolescent
Adult
Biomarkers
Child
Child, Preschool
Cohort Studies
Cross-Sectional Studies
Delayed Diagnosis
Drug Development
Female
Humans
Infant
Infant, Newborn
Lysosomal Storage Diseases--diagnosis
Male
Middle Aged
Mutation
Phenotype
Radiography
Review Literature as Topic
Survival Analysis
Young Adult