Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene [PDF]
Frontiers in Endocrinology, 2023 IntroductionHypophosphatasia (HPP) is an inborn metabolic error caused by mutations in the ALPL gene encoding tissue non-specific alkaline phosphatase (TNSALP) and leading to decreased alkaline phosphatase (ALP) activity. Although the main characteristic
Luis Martínez-Heredia +25 more
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Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia [PDF]
Frontiers in Endocrinology, 2022 Hypophosphatasia (HPP) a rare disease caused by mutations in the ALPL gene encoding for the tissue-nonspecific alkaline phosphatase protein (TNSALP), has been identified as a potentially under-diagnosed condition worldwide which may have higher ...
Raquel Sanabria-de la Torre +29 more
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Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations [PDF]
Frontiers in Endocrinology, 2022 BackgroundLow serum alkaline phosphatase levels are the hallmark of hypophosphatasia, a disorder due to pathogenic variants of the ALPL gene. However, some patients do not carry ALPL variants and the cause of low alkaline phosphatase remains unknown.
Maite Santurtún +12 more
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Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia [PDF]
Frontiers in Genetics, 2021 Background: Hypophosphatasia (HPP) is an autosomal genetic disorder characterized biochemically by abnormal of bone parameters and serum alkaline phosphatase (ALP) activity as well as clinically by deficiency of teeth and bone mineralization.
Qiang Zhang +7 more
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Different Dental Manifestations in Sisters with the Same ALPL Gene Mutation: A Report of Two Cases [PDF]
Children, 2022 Hypophosphatasia (HPP) is an inherited disease caused by mutation of the alkaline phosphatase (ALPL) gene in an autosomal dominant or an autosomal recessive manner. The main symptoms of HPP are bone hypomineralization and early exfoliation of the primary
Tamami Kadota +3 more
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Identification of a novel homozygous variant in the alkaline phosphate (ALPL) gene associated with hypophosphatasia [PDF]
Clinical Case Reports, 2020 The lack of awareness of patient risk factors, failure to obtain adequate family history, was discussed by clinical experience in prenatal testing of hypophosphatasia with a novel variant in the ALPL gene identified in the index case of the family.
Atil Bisgin +3 more
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Comprehensive treatment approaches for skeletal deformities in hypophosphatasia: a case study of ALPL gene variants [PDF]
Frontiers in PediatricsThis study presents a case report of an 11-year-old boy with hypophosphatasia due to compound heterozygous ALPL gene genetic variants, focusing on the treatment effects of comprehensive approaches for this rare genetic disorder.
Qiongjie Jiao, Guixia Ma, Qian Ni
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Two children with hypophosphatasia with a heterozygous c.1559delT variant in the ALPL gene, the most common variant in Japanese populations [PDF]
Bone Reports, 2022 Hypophosphatasia (HPP), a genetic disorder characterized by decreased tissue-nonspecific alkaline phosphatase (TNSALP) activity, is caused by loss-of-function mutations in the ALPL gene, which encodes TNSALP.
Hiroshi Kitoh +6 more
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Infantile hypophosphatasia in a Chinese patient: identification and characterization of novel compound heterozygous ALPL mutations [PDF]
Human Genome VariationHere we report a Chinese infant with hypophosphatasia (HPP) carrying alkaline phosphatase (ALPL) gene mutations. Genetic analysis of the patient’s ALPL gene revealed a maternally inherited canonical splice-site variant (c.997+1G>T; pathogenic; PVS1 + PM2
Wenjuan Li +3 more
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Functional and In Silico Characterization of ALPL Gene Variants Reveals Genotype–Phenotype Correlations in Italian Hypophosphatasia Patients [PDF]
CellsBackground. Hypophosphatasia (HPP) is a rare genetic disorder caused by impaired tissue non-specific alkaline phosphatase (ALPL/TNSALP) activity that impacts the musculoskeletal and neurological systems.
Giulia Casamassima +12 more
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