Associated Papers
Genetic Variants in Liver Cirrhosis: Classifications, Mechanisms, and Implications for Clinical Practice.
Raghavan RP et al.
Journal of Personalized Medicine, 2026
The Global Hypophosphatasia Registry: lessons learned from a decade of real-world data.
Kishnani PS et al.
Orphanet Journal of Rare Diseases, 2025
Revisiting the Genetics of Hypophosphatasia.
Kishnani PS et al.
Journal of Inherited Metabolic Disease, 2025
Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants.
Montero-Lopez R et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
Differential Pregnancy Decisions in a Woman With a Recurrent Prenatal Diagnosis of Hypophosphatasia.
Oguro T et al.
Cureus, 2025
Vitamin B6 Status in Hypophosphatasia: Association With Clinical Severity, Diagnostic Utility, and Effects on Vitamin B6 Metabolism by Supplementation and Enzyme Replacement Therapy.
Akiyama T et al.
Journal of Inherited Metabolic Disease, 2025
Efficacy of asfotase alfa in a patient with adult-onset hypophosphatasia without obvious bone lesions: a case report with review of literature.
Nishikage S et al.
Endocrine Journal, 2025
Effects of enzyme replacement therapy in sibling cases of hypophosphatasia of varying severities.
Kanno J et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2025
Newborn screening for hypophosphatasia: development of a high-throughput tissue nonspecific alkaline phosphatase activity assay using dried blood spots.
Noda Y et al.
Jbmr Plus, 2025
Identification of Genetic Variants in Status Epilepticus Associated With Fever.
Hanafusa H et al.
Brain and Behavior, 2025
High Prevalence of Nephrocalcinosis in Hypophosphatasia Patients with the ALPL c.1559del Gene Variant.
Kawashima H et al.
Jma Journal, 2025
Adult hypophosphatasia presenting with recurrent acute joint pain.
Yoshida H et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2025
Severe hypoplastic enamel as a primary manifestation of hypophosphatasia: A case report.
Kim YJ et al.
Journal of Dental Sciences, 2025
Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort.
Alsagheir A et al.
Frontiers in Genetics, 2025
New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.
Kishnani PS et al.
American Journal of Medical Genetics. Part A, 2024
The Benefits of Whole-Exome Sequencing in the Differential Diagnosis of Hypophosphatasia.
Glotov OS et al.
International Journal of Molecular Sciences, 2024
Genetic analysis of pregnancy loss and fetal structural anomalies by whole exome sequencing.
Xiang J et al.
Orphanet Journal of Rare Diseases, 2024
The Effect of Asfotase Alfa on Plasma and Urine Pyrophosphate Levels and Pseudofractures in a Patient With Adult-Onset Hypophosphatasia.
Hidaka N et al.
Jbmr Plus, 2023
Prenatal asfotase alfa-mediated enzyme replacement therapy restores delayed calcification in a severe infantile form of hypophosphatasia model mice.
Yoshida K et al.
European Journal of Medical Genetics, 2023
Six-year clinical outcomes of enzyme replacement therapy for perinatal lethal and infantile hypophosphatasia in Korea: Two case reports.
Kim I et al.
Medicine, 2023
Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients.
Suzuki Y et al.
Genes, 2023
Two children with hypophosphatasia with a heterozygous c.1559delT variant in the ALPL gene, the most common variant in Japanese populations.
Kitoh H et al.
Bone Reports, 2022
Dental manifestation and management of hypophosphatasia.
Okawa R et al.
The Japanese Dental Science Review, 2022
Radiological evaluation of pseudofracture after the administration of asfotase alfa in an adult with benign prenatal hypophosphatasia: A case report.
Kato H et al.
Bone Reports, 2022
The Contribution of Deleterious Rare Alleles in ENPP1 and Osteomalacia Causative Genes to Atypical Femoral Fracture.
Furukawa H et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia.
Sugiyama Y et al.
Orphanet Journal of Rare Diseases, 2022
Massive calcification around large joints in a patient subsequently diagnosed with adult-onset hypophosphatasia.
Koga M et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2022
Prenatal enzyme replacement therapy for Akp2 -/- mice with lethal hypophosphatasia.
Hasegawa A et al.
Regenerative Therapy, 2021
Hypophosphatasia: A Unique Disorder of Bone Mineralization.
Villa-Suárez JM et al.
International Journal of Molecular Sciences, 2021
Clinical and genetic characteristics of hypophosphatasia in Chinese children.
Liu M et al.
Orphanet Journal of Rare Diseases, 2021
Inborn errors in the vitamin B6 salvage enzymes associated with neonatal epileptic encephalopathy and other pathologies.
Ghatge MS et al.
Biochimie, 2021
Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.
Jandl NM et al.
Calcified Tissue International, 2021
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.
Mornet E et al.
European Journal of Human Genetics : Ejhg, 2021
Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.
Nagaoka S et al.
Human Genome Variation, 2021
Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement Therapy.
Raimann A et al.
Hormone Research in Paediatrics, 2021
Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia.
Matsuda N et al.
Endocrine Journal, 2020
Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation: a family report.
Kato M et al.
Journal of Bone and Mineral Metabolism, 2020
Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia.
Chida-Naomiya R et al.
Molecular Genetics and Metabolism Reports, 2020
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.
Del Angel G et al.
Human Mutation, 2020
Effect of Asfotase Alfa on Muscle Weakness in a Japanese Adult Patient of Hypophosphatasia with Low ALP Levels.
Koyama H et al.
Internal Medicine (tokyo, Japan), 2020
Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
Michigami T et al.
Calcified Tissue International, 2020
Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study.
Nagata M et al.
Journal of Human Genetics, 2020
Clinical Practice Guidelines for Hypophosphatasia.
Michigami T et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2020
Case Report: Efficacy of Reduced Doses of Asfotase Alfa Replacement Therapy in an Infant With Hypophosphatasia Who Lacked Severe Clinical Symptoms.
Fujisawa Y et al.
Frontiers in Endocrinology, 2020
Clinical and genetic aspects of mild hypophosphatasia in Japanese patients.
Yokoi K et al.
Molecular Genetics and Metabolism Reports, 2019