Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates.

Lefever, Eveline; Witters, Peter; Gielen, Evelien; Vanclooster, Annick; Meersseman, Wouter; Morava, Eva; Cassiman, David; Laurent, Michaël R

Lefever, Eveline; Witters, Peter; Gielen, Evelien; Vanclooster, Annick; Meersseman, Wouter; Morava, Eva; Cassiman, David; Laurent, Michaël R.

Affiliation

Lefever E; Department of Internal Medicine, University Hospitals Leuven, Leuven, Belgium.
Witters P; Centre for Metabolic Diseases, University Hospitals Leuven, Leuven, Belgium; Department of Development and Regeneration, KU Leuven, Leuven, Belgium.
Gielen E; Center for Metabolic Bone Diseases, University Hospitals Leuven, Leuven, Belgium; Department of Chronic Diseases, Metabolism and Aging (CHROMETA), KU Leuven, Leuven, Belgium.
Vanclooster A; Centre for Metabolic Diseases, University Hospitals Leuven, Leuven, Belgium.
Meersseman W; Centre for Metabolic Diseases, University Hospitals Leuven, Leuven, Belgium.
Morava E; Centre for Metabolic Diseases, University Hospitals Leuven, Leuven, Belgium; Hayward Genetics Center, Tulane University Medical School, New Orleans, LA, USA; Clinical Genomics Department, Mayo Clinic, Rochester, MN, USA.
Cassiman D; Centre for Metabolic Diseases, University Hospitals Leuven, Leuven, Belgium; Department of Chronic Diseases, Metabolism and Aging (CHROMETA), KU Leuven, Leuven, Belgium.
Laurent MR; Center for Metabolic Bone Diseases, University Hospitals Leuven, Leuven, Belgium; Department of Chronic Diseases, Metabolism and Aging (CHROMETA), KU Leuven, Leuven, Belgium. Electronic address: michael.laurent@uzleuven.be.

J Clin Densitom ; 23(3): 340-348, 2020.

Article in En | MEDLINE | ID: mdl-30655187

Subject(s)

Alkaline Phosphatase/genetics; Ethanolamines/urine; Fractures, Bone/physiopathology; Hypophosphatasia/metabolism; Pyridoxal Phosphate/blood; Adolescent; Adult; Aged; Aged, 80 and over; Alkaline Phosphatase/metabolism; Bone Density Conservation Agents/adverse effects; Denosumab/adverse effects; Diphosphonates/adverse effects; Epilepsy/drug therapy; Epilepsy/etiology; Epilepsy/physiopathology; Fatigue/etiology; Fatigue/physiopathology; Female; Femoral Fractures/chemically induced; Femoral Fractures/etiology; Femoral Fractures/physiopathology; Fractures, Ununited/etiology; Fractures, Ununited/physiopathology; Growth Disorders/etiology; Growth Disorders/physiopathology; Hip Fractures/etiology; Hip Fractures/physiopathology; Humans; Hypophosphatasia/complications; Hypophosphatasia/genetics; Hypophosphatasia/physiopathology; Kidney Calculi/etiology; Kidney Calculi/physiopathology; Male; Metatarsal Bones/injuries; Middle Aged; Pyridoxine/therapeutic use; Rickets, Hypophosphatemic/etiology; Rickets, Hypophosphatemic/physiopathology; Severity of Illness Index; Tooth Loss/etiology; Tooth Loss/physiopathology; Vitamin B Complex/therapeutic use; Young Adult

Key words

Adults; Alkaline phosphatase; fractures; hypophosphatasia; phosphoethanolamine; pyridoxal-5'-phosphate

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Full text: 1 Database: MEDLINE Main subject: Pyridoxal Phosphate / Alkaline Phosphatase / Fractures, Bone / Ethanolamines / Hypophosphatasia Type of study: Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Aged80 Language: En Journal: J Clin Densitom Journal subject: ORTOPEDIA Year: 2020 Type: Article Affiliation country: Belgium

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