HPP is diagnosed according to clinical symptoms, radiological findings, and biochemical test results, and must be differentiated from other bone diseases, including rickets, osteomalacia, …

2024年12月3日 · Tests that can help lead to an HPP diagnosis include: Alkaline phosphatase (ALP) blood tests. ALP is an enzyme that plays a role in bone mineral density. People with …

2021年2月16日 · HPP is diagnosed by identifying its symptoms and complications beginning with a detailed patient history. HPP signs are revealed by a thorough clinical examination, and …

2023年5月20日 · Hypophosphatasia (HPP), also called Rathbun disease, is a rare condition you inherit from your parents. It keeps your bones and teeth from developing the right way, making …

This manuscript provides a summary of the current evidence to support the criteria for diagnosing a child or adult with hypophosphatasia (HPP). The diagnosis of HPP is made on the basis of …

2020年1月17日 · Hypophosphatasia (HPP) is an inborn error of metabolism with a broad spectrum of clinical severity caused by loss of function mutations in the gene encoding tissue …

This booklet contains both a discussion guide for you and your patients to help identify the burden of HPP and uncover current or past signs and symptoms, and a reference resource for the …

2018年4月26日 · Hypophosphatasia (HPP) is a rare inherited disorder that mainly affects bone and teeth mineralization. It is caused by a genetic metabolic defect characterized by low …

Urine PEA is a promising diagnostic and confirmatory marker for HPP in patients undergoing investigation for HPP. Urine PEA also has potential use as a marker to monitor ERT …

only indicator of low protein levels. Therefore, it is important to confirm a HPP diagnosis through additional measu.