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Last Updated: 04/25/2025
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Found 66 publications
Infantile hypophosphatasia: a rare aetiology of recurrent pneumonia.
Journal: BMJ case reports
Published: February 08, 2025
Tissue nonspecific alkaline phosphatase deficiency impairs Purkinje cell development and survival in a mouse model of infantile hypophosphatasia.
Journal: Neuroscience
Published: June 15, 2024
Safety and efficacy of long term asfotase alfa treatment in childhood hypophosphatasia.
Journal: Italian journal of pediatrics
Published: April 24, 2024
Catalyzing precision: unraveling the diagnostic conundrum of tunisian familial hypophosphatasia case through integrative clinical and molecular approaches.
Journal: Molecular genetics and genomics : MGG
Published: February 09, 2024
A unique case of childhood hypophosphatasia caused by a novel heterozygous 51-bp in-frame deletion in the ALPL gene.
Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
Published: March 13, 2023
Six-year clinical outcomes of enzyme replacement therapy for perinatal lethal and infantile hypophosphatasia in Korea: Two case reports.
Journal: Medicine
Published: February 23, 2023
Childhood Hypophosphatasia Associated with a Novel Biallelic ALPL Variant at the TNSALP Dimer Interface.
Journal: International journal of molecular sciences
Published: November 11, 2022
Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Journal: International journal of molecular sciences
Published: September 05, 2022
Effects of Infantile Hypophosphatasia on Human Dental Tissue.
Journal: Calcified tissue international
Published: August 25, 2022
Screening for hypophosphatasia: does biochemistry lead the way?
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: February 12, 2021
Excellent response to asfotase alfa treatment in an adolescent patient with hypophosphatasia.
Journal: JIMD reports
Published: April 24, 2020
Recovery of bone mineralization and quality during asfotase alfa treatment in an adult patient with infantile-onset hypophosphatasia.
Journal: Bone
Published: March 01, 2019
Last Updated: 04/25/2025