Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa.

Kishnani, Priya S; Del Angel, Guillermo; Zhou, Shanggen; Rush, Eric T

Kishnani, Priya S; Del Angel, Guillermo; Zhou, Shanggen; Rush, Eric T.

Affiliation

Kishnani PS; Department of Pediatrics, Duke University Medical Center, 2351 Erwin Road, Durham, NC, USA. Electronic address: Priya.Kishnani@duke.edu.
Del Angel G; Alexion Pharmaceuticals, Inc., 121 Seaport Blvd., Boston, MA, USA. Electronic address: Guillermo.delAngel@alexion.com.
Zhou S; Covance, Inc., 206 Carnegie Center Dr, Princeton, NJ, USA. Electronic address: shanggen.zhou@covance.com.
Rush ET; Children's Mercy Hospital Kansas City, 2401 Gillham Rd, Kansas City, MO, USA; University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA; University of Kansas School of Medicine, Kansas City, KS, USA. Electronic address: etrush@cmh.edu.

Mol Genet Metab ; 133(1): 113-121, 2021 05.

Article in En | MEDLINE | ID: mdl-33814268

Subject(s)

Alkaline Phosphatase/administration & dosage; Alkaline Phosphatase/genetics; Hypophosphatasia/drug therapy; Immunoglobulin G/administration & dosage; Recombinant Fusion Proteins/administration & dosage; Adolescent; Adult; Clinical Trials, Phase II as Topic; Female; Genes, Recessive/genetics; Humans; Hypophosphatasia/genetics; Hypophosphatasia/pathology; Male; Randomized Controlled Trials as Topic; Treatment Outcome; Young Adult

Key words

ALPL; Alkaline phosphatase; Hypophosphatasia; Inheritance patterns; Inorganic pyrophosphate; Missense mutations; Pyridoxal 5'-phosphate

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Recombinant Fusion Proteins / Immunoglobulin G / Alkaline Phosphatase / Hypophosphatasia Type of study: Clinical_trials / Prognostic_studies Limits: Adolescent / Adult / Female / Humans / Male Language: En Journal: Mol Genet Metab Journal subject: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Year: 2021 Document type: Article Country of publication: United States

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