☆ 4.5 Article

Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?

ORPHANET JOURNAL OF RARE DISEASES (2021)

Related references

Note: Only part of the references are listed.

Article Biochemistry & Molecular Biology

Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation

Etienne Mornet et al.

Summary: The study analyzed a cohort of 424 HPP patients of European origin, classifying ALPL pathogenic variants based on their dominant negative effects and severity. Homozygosity was found to exacerbate severity, with moderate alleles being rare. Pathogenic variants with no dominant negative effect were associated with milder symptoms, suggesting a new clinical entity.

EUROPEAN JOURNAL OF HUMAN GENETICS (2021)

Add to Collection

Article Endocrinology & Metabolism

Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia

Nico Maximilian Jandl et al.

Summary: Hypophosphatasia (HPP) is a rare congenital metabolic disorder caused by decreased activity of tissue nonspecific alkaline phosphatase (TNSALP). The study analyzed 72 patients with rare ALPL variants, finding a potential association between rare ALPL variants and bone and tooth complications that could aid in the diagnosis of adult HPP.

CALCIFIED TISSUE INTERNATIONAL (2021)

Add to Collection

Article Genetics & Heredity

Impact of pediatric hypophosphatasia on behavioral health and quality of life

Elizabeth I. Pierpont et al.

Summary: Children with HPP are at increased risk for ADHD symptoms and other behavioral health challenges, which are often under-recognized in clinical practice. Approximately 67% of children with HPP exhibit clinically significant behavioral health challenges, such as sleep disturbance and symptoms of ADHD, which are associated with reduced physical and psychosocial quality of life. Despite age-typical development of adaptive skills in most children, emotional and behavioral challenges are linked to weaker adaptive function.

ORPHANET JOURNAL OF RARE DISEASES (2021)

Add to Collection

Article Orthopedics

Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry

Wolfgang Hoegler et al.

BMC MUSCULOSKELETAL DISORDERS (2019)

Add to Collection

Article Multidisciplinary Sciences

Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene

Cristina Garcia-Fontana et al.

SCIENTIFIC REPORTS (2019)

Add to Collection

Article Endocrinology & Metabolism

Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosology

Michael P. Whyte et al.

BONE (2018)

Add to Collection

Article Endocrinology & Metabolism

Clinical, radiographic and biochemical characteristics of adult hypophosphatasia

T. Schmidt et al.

OSTEOPOROSIS INTERNATIONAL (2017)

Add to Collection

Review Endocrinology & Metabolism

Alkaline Phosphatase and Hypophosphatasia

Jose Luis Millan et al.

CALCIFIED TISSUE INTERNATIONAL (2016)

Add to Collection

Article Endocrinology & Metabolism

Burden of disease in adult patients with hypophosphatasia: Results from two patient-reported surveys

Thomas J. Weber et al.

METABOLISM-CLINICAL AND EXPERIMENTAL (2016)

Add to Collection

Review Endocrinology & Metabolism

Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment

Michael P. Whyte

NATURE REVIEWS ENDOCRINOLOGY (2016)

Add to Collection

Article Endocrinology & Metabolism

Clinical and Radiographic Findings in Adults With Persistent Hypophosphatasemia

Fergus Eoin McKiernan et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2014)

Add to Collection

Article Endocrinology & Metabolism

Acute hypophosphatasemia

F. E. McKiernan et al.

OSTEOPOROSIS INTERNATIONAL (2014)

Add to Collection

Article Genetics & Heredity

A Molecular-Based Estimation of the Prevalence of Hypophosphatasia in the European Population

Etienne Mornet et al.

ANNALS OF HUMAN GENETICS (2011)

Add to Collection

Article Endocrinology & Metabolism

Serum Alkaline Phosphatase Levels in Healthy Children and Evaluation of Alkaline Phosphatase z-scores in Different Types of Rickets

Serap Turan et al.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY (2011)

Add to Collection

Article Multidisciplinary Sciences

Physiological role of alkaline phosphatase explored in hypophosphatasia

Michael P. Whyte

SKELETAL BIOLOGY AND MEDICINE (2010)

Add to Collection

© Peeref 2019-2024. All rights reserved.