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Infantile hypophosphatasia presents in the first 6 months of life, with the onset of poor feeding and inadequate weight gain. Clinical manifestations of rickets often appear at this time. Although cranial sutures appear to be wide, this reflects hypomineralization of the skull, and there is often "functional" craniosynostosis .
In the United States, asfotase alfa is indicated for the treatment of people with perinatal/infantile- and juvenile-onset hypophosphatasia (HPP). [5]In the European Union, asfotase alfa is indicated for long-term enzyme replacement therapy in people with paediatric-onset hypophosphatasia to treat the bone manifestations of the disease.
FDA Grants Breakthrough Therapy Designation to Asfotase Alfa for Perinatal-, Infantile- and Juvenile-Onset Hypophosphatasia (HPP) LAUSANNE, Switzerland--(BUSINESS WIRE)-- Alexion Pharma ...
Infantile hypophosphatasia [102] Intellectual developmental disorder with autistic features and language delay, with or without seizures Microcephaly [103] Intellectual disability, autosomal dominant Microcephaly [104] Intellectual disability, X-linked syndromic, Turner type Brachycephaly, trigonocephaly Macrocephaly or microcephaly
Hypophosphatemia is an electrolyte disorder in which there is a low level of phosphate in the blood. [1] Symptoms may include weakness, trouble breathing, and loss of appetite. [1]
Hypophosphatasia, infantile; Hypophosphatasia; Hypophosphatemic rickets; Hypopigmentation oculocerebral syndrome Cross type; Hypopituitarism micropenis cleft lip palate; Hypopituitarism postaxial polydactyly; Hypopituitarism; Hypopituitary dwarfism; Hypoplasia hepatic ductular; Hypoplasia of the tibia with polydactyly; Hypoplastic left heart ...
[8] [9] The Stenciling Principle for mineralization is particularly relevant to the osteomalacia and odontomalacia observed in hypophosphatasia (HPP) and X-linked hypophosphatemia (XLH). The most common cause of osteomalacia is a deficiency of vitamin D, which is normally derived from sunlight exposure and, to a lesser extent, from the diet. [10]
For years, the death of 15-year-old Danielle "Danni" Houchins had been shrouded in mystery. Montana investigators initially said it could have been a tragic accident, but her family always ...
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