We review here clinical, pathophysiological, diagnostic, genetic and molecular aspects of
Hypophosphatasia (HPP), a rare inherited metabolic disorder. The clinical presentation is a …

Hypophosphatasia (HPP) is an inherited metabolic disease caused by loss-of-function
mutations in the tissue non-specific alkaline phosphatase (TNAP) gene. Reduced activity of …

Hypophosphatasia (HPP) is caused by pathogenic variants in the ALPL gene. There is a
large continuum in the severity, ranging from a lethal perinatal form to dental issues. We …

Hypophosphatasia (HPP) is a rare bone disease caused by inactivating mutations in the
ALPL gene, which encodes tissue-nonspecific alkaline phosphatase (TNSALP). Patients …

Hypophosphatasia (HPP) is an inborn error of metabolism caused by reduced or absent
activity of the tissue non-specific alkaline phosphatase (TNSALP) enzyme, resulting from …

ALPL encodes tissue-nonspecific alkaline phosphatase (TNAP), an enzyme expressed in
bone, teeth, liver, and kidney. ALPL loss-of-function mutations cause hypophosphatasia …

Hypophosphatasia (HPP) is a rare inborn error of metabolism that presents variably in both
age of onset and severity. HPP is caused by pathogenic variants in the ALPL gene, resulting …

Purpose Generalized arterial calcification of infancy, pseudoxanthoma elasticum, autosomal
recessive hypophosphatemic rickets type 2, and hypophosphatasia are rare inherited …

Hypophosphatasia (HPP) is a rare inherited metabolic bone disease due to a deficiency of
the tissue nonspecific alkaline phosphatase isoenzyme (TNSALP) encoded by the ALPL …

Background: Hypophosphatasia (HPP) is a rare metabolic bone disorder caused by
mutations in the alkaline phosphatase (ALPL) gene, and characterized by low circulating …