Not just a carrier: Clinical presentation and management of patients with heterozygous disease‐causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening
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Tag: ALPL
A Case of Spondylodysplastic Ehlers-Danlos Syndrome With Comorbid Hypophosphatasia
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The Clinical Picture of Patients Suffering from Hypophosphatasia—A Rare Metabolic Disease of Many Faces
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Bone-microarchitecture and bone-strength in a sample of adults with hypophosphatasia and a matched reference population assessed by HR-pQCT and impact microindentation
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Dissecting Mutational Allosteric Effects in Alkaline Phosphatases Associated with Different Hypophosphatasia Phenotypes: An Integrative Computational Investigation
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Biochemical algorithm to identify individuals with ALPL variants among subjects with persistent hypophosphatasaemia
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Clinical, biochemical and genetic findings in adult patients with chronic hypophosphatasemia
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Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark
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Tissue-Nonspecific Alkaline Phosphatase in Central Nervous System Health and Disease: A Focus on Brain Microvascular Endothelial Cells
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Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States
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