Gene therapy using adeno-associated virus serotype 8 encoding TNAP-D 10 improves the skeletal and dentoalveolar phenotypes in Alpl -/- mice
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Category: Scientific Publications
Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced cofactor pyridoxal 5 phosphate availability
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POS1126 PREVALENCE OF HYPOPHOSPHATASIA IN ADULT RHEUMATOLOGY PATIENTS SCREENED BY LOW LEVELS OF ALKALINE PHOSPHATASE
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POS 1137 IDENTIFYING ADULT HYPOPHOSPHATASIA IN THE RHEUMATOLOGY UNIT
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Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia
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Hypophosphatasia presenting as musculoskeletal pain: a case series of 12 adults presenting to general rheumatology clinic
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Active search of adult patients with persistently low serum alkaline phosphatase levels for the diagnosis of hypophosphatasia
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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
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Vitamin B6 deficiency with normal plasma levels of pyridoxal 5′-phosphate in perinatal hypophosphatasia
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