Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders-Reference-Cited by-同舟云学术

Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders

Published:2018-04-06 Issue:6 Volume:103 Page:2234-2243
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Dahir Kathryn M¹,Tilden Daniel R²,Warner Jeremy L³⁴,Bastarache Lisa⁴,Smith Derek K⁵,Gifford Aliya⁴,Ramirez Andrea H¹,Simmons Jill S⁶,Black Margo M⁶,Newman John H⁷,Denny Josh C⁴⁸

Affiliation:

1. Division of Endocrinology, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee

2. Department of Internal Medicine and Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee

3. Division of Hematology and Oncology, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee

4. Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee

5. Departments of Biostatistics and Oral Maxillofacial Surgery, Vanderbilt University Medical Center, Nashville, Tennessee

6. Division of Pediatric Endocrinology, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee

7. Division of Allergy, Pulmonary and Critical Care Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee

8. Division of General Internal Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/103/6/2234/25088373/jc.2017-02676.pdf

Reference36 articles.

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2. Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment;Whyte;Nat Rev Endocrinol,2016

3. Hypophosphatasia: an overview of the disease and its treatment;Bianchi;Osteoporos Int,2015

4. Orodental phenotype and genotype findings in all subtypes of hypophosphatasia;Reibel;Orphanet J Rare Dis,2009

5. Multiple fractures, pain, and severe disability in a patient with adult-onset hypophosphatasia;Braunstein;Bone Rep,2015

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1. Urine phosphoethanolamine is a specific biomarker for hypophosphatasia in adults;Bone;2022-10

2. Excavating the pathogenic gene of breast cancer based on high throughput data of tumor and somatic reprogramming;Cell Cycle;2021-08-13

3. Genotype–Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia;Calcified Tissue International;2020-11-15

4. Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation;European Journal of Human Genetics;2020-09-24

5. Adult hypophosphatasia with a novel ALPL mutation: Report of an Indian kindred;Bone Reports;2020-06