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

Large‐Scale In Vitro Functional Testing and Novel Variant Scoring via Protein Modeling Provide Insights Into Alkaline Phosphatase Activity in Hypophosphatasia

(2020) Guillermo Angel et al.   HUMAN MUTATION

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

(2018) Kathryn M Dahir et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Hypophosphatasia

(2018) Etienne Mornet   METABOLISM-CLINICAL AND EXPERIMENTAL

Genetic analysis of adults heterozygous for ALPL mutations

(2017) Agnès Taillandier et al.   JOURNAL OF BONE AND MINERAL METABOLISM

Adult hypophosphatasia

(2016) Karine Briot et al.   CURRENT OPINION IN RHEUMATOLOGY

Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults

(2016) Leyre Riancho-Zarrabeitia et al.   European Journal of Internal Medicine

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

(2016) Johan T. den Dunnen et al.   HUMAN MUTATION

Hypophosphatasia: diagnosis and clinical signs - a dental surgeon perspective

(2016) Agnès Bloch-Zupan   International Journal of Paediatric Dentistry

Hypophosphatasia

(2016) Agnès Linglart et al.   Current Osteoporosis Reports

Hypophosphatasia: Validation and expansion of the clinical nosology for children from 25years experience with 173 pediatric patients

(2015) Michael P. Whyte et al.   BONE

Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing

(2015) Agnès Taillandier et al.   MOLECULAR GENETICS AND METABOLISM

Characterization of Six Missense Mutations in the Tissue-Nonspecific Alkaline Phosphatase (TNSALP) Gene in Chinese Children with Hypophosphatasia

(2013) Haiou Yang et al.   CELLULAR PHYSIOLOGY AND BIOCHEMISTRY

Identification of the Mutations in the Tissue-nonspecific Alkaline Phosphatase Gene in Two Chinese Families with Hypophosphatasia

(2012) Hao Zhang et al.   ARCHIVES OF MEDICAL RESEARCH

Disulfide bonds are critical for tissue-nonspecific alkaline phosphatase function revealed by analysis of mutant proteins bearing a C201-Y or C489-S substitution associated with severe hypophosphatasia

(2012) Yasuhito Satou et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

“Atypical femoral fractures” during bisphosphonate exposure in adult hypophosphatasia

(2012) Roger AL Sutton et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia

(2012) Michael P. Whyte et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2011) Etienne Mornet et al.   ANNALS OF HUMAN GENETICS

Hypophosphatasia: Nonlethal disease despite skeletal presentation in utero (17 new cases and literature review)

(2011) Deborah Wenkert et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

(2009) Delphine Fauvert et al.   BMC Medical Genetics

Unique disease heritage of the Dutch-German Mennonite population

(2008) Noelle C. Orton et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Atypical Femoral Fractures, Bisphosphonates, and Adult Hypophosphatasia

(2008) Michael P Whyte   JOURNAL OF BONE AND MINERAL RESEARCH

Iron-Overload–Related Disease inHFEHereditary Hemochromatosis

(2008) Katrina J. Allen et al.   NEW ENGLAND JOURNAL OF MEDICINE