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Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia
Kenton N. Fedde
, Michelle P. Michell
, Paula S. Henthorn
, Michael P. Whyte
Division of Bone & Mineral Diseases
Institute of Clinical and Translational Sciences (ICTS)
Research output
:
Contribution to journal
›
Article
›
peer-review
38
Scopus citations
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Dive into the research topics of 'Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia'. Together they form a unique fingerprint.
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Keyphrases
Alkaline Phosphatase Activity
100%
Hypophosphatasia
100%
Alkaline Phosphatase
100%
Severe Disease
100%
Patient Fibroblasts
100%
TNSALP
60%
Fibroblasts
40%
Biochemical Properties
40%
Bone Alkaline Phosphatase
40%
Cross-reacting Material 197
40%
Liver
20%
Disease Severity
20%
Autosomal Recessive
20%
Kidney
20%
Gene mutation
20%
Isoenzymes
20%
Strong Correlation
20%
In(III)
20%
Gel Filtration
20%
Control Cell
20%
Clinical Severity
20%
Missense mutation
20%
Metabolic Bone Disease
20%
Means of Control
20%
Aberrancy
20%
Subject Group
20%
Electrodialysis
20%
Material Level
20%
Enzyme Properties
20%
Biochemistry, Genetics and Molecular Biology
Alkaline Phosphatase
100%
Fibroblast
100%
Enzyme
8%
Gene Mutation
8%
Isoenzyme
8%
Gel Filtration
8%
Autosomal Recessive Inheritance
8%
Missense Mutation
8%
Enzyme Property
8%
Electrodialysis
8%