Associated Papers
Genetic Variants in Liver Cirrhosis: Classifications, Mechanisms, and Implications for Clinical Practice.
Raghavan RP et al.
Journal of Personalized Medicine, 2026
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.
Hashiba T et al.
Journal of Diabetes Investigation, 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
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
Long-Term Outcomes of Early Enzyme Replacement Therapy With Asfotase Alfa in Perinatal Benign Hypophosphatasia: Amelioration of Bone Deformities in a Young Child.
Terayama S et al.
Cureus, 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
Adult-onset hypophosphatasia diagnosed after consecutive tooth loss during orthodontic treatment: a case report.
Tokuchi S et al.
Journal of Medical Case Reports, 2024
Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center.
Xue H et al.
Scientific Reports, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Hypophosphatasia: presentation and response to asfotase alfa.
Alsarraf F 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, 2024
Short stature with low serum alkaline phosphatase activity: a case report of hypophosphatasia.
Lee D et al.
Annals of Pediatric Endocrinology & Metabolism, 2023
Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults.
Li X et al.
Genes, 2023
Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening.
Beck NM et al.
Molecular Genetics & Genomic Medicine, 2023
A unique case of childhood hypophosphatasia caused by a novel heterozygous 51-bp in-frame deletion in the ALPL gene.
Tachikawa K et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 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
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Glotov OS et al.
International Journal of Molecular Sciences, 2022
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.
Xiao F et al.
Plos Computational Biology, 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
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Clinical and genetic characteristics of hypophosphatasia in Chinese children.
Liu M et al.
Orphanet Journal of Rare Diseases, 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
Asfotase alfa has a limited effect in improving the bowed limbs in perinatal benign hypophosphatasia: A case report.
Matsushita M et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2021
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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 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
Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.
Mao X et al.
Bmc Pediatrics, 2019
Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report.
Fukushima K et al.
Journal of Medical Case Reports, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types.
Okawa R et al.
Plos One, 2019
Pyridoxal 5'-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy.
Akiyama T et al.
Molecular Genetics and Metabolism, 2018