hypophosphatasia/vomiting

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Hypophosphatasia associated with pseudotumor cerebri and respiratory insufficiency.

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We report a 3-month-old male with infantile hypophosphatasia who later developed Pseudotumor cerebri. At the age of 3 months, he was referred to our hospital because of pneumonia and respiratory insufficiency. He had short extremities, and radiographs of the bones were consistent with lack of

A novel combination of biallelic ALPL mutations associated with adult hypophosphatasia: A phenotype-genotype association and computational analysis study.

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Hypophosphatasia (HPP) is an inherited metabolic disorder that causes defective skeletal and dental mineralization. HPP exhibits a markedly heterogeneous range of clinical manifestations caused by dysfunction of the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP), resulting from

First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.

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Hypophosphatasia is a rare hereditary disorder characterized by defective bone and tooth mineralization and deficiency of tissue non-specific alkaline phosphatase activity. The prognosis for the infantile form is poor, with approximately 50% of patients dying within the first year of life from

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