Condition: Childhood hypophosphatasia (disorder)


rs121918001 in ALPL gene and Childhood hypophosphatasia (disorder) PMID 11760847 2001 Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.

PMID 24569605 2014 Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia.

PMID 1409720 1992 Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia.

PMID 17719863 2007 Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia.

PMID 19500388 2009 Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.

PMID 20739387 2010 Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia.