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searching for Hypophosphatasia 9 found (40 total)

Pseudofracture (150 words) [view diff] exact match in snippet view article find links to article

renal osteodystrophy, osteogenesis imperfecta, fibrous dysplasia, and hypophosphatasia. Looser zones are named after Emil Looser, a Swiss physician. A band

X-linked hypophosphatemia (2,782 words) [view diff] exact match in snippet view article find links to article

wasting, both cause osteomalacia and odontomalacia. For both XLH and hypophosphatasia, inhibitor-enzyme pair relationships function to regulate mineralization

PHEX (1,204 words) [view diff] exact match in snippet view article find links to article

particularly relevant to the osteomalacia and odontomalacia observed in hypophosphatasia and X-linked hypophosphatemia. Mutation of PHEX leads to X-linked hypophosphatemia

Enamel hypoplasia (1,536 words) [view diff] exact match in snippet view article find links to article

syndrome, Heimler syndrome & Ellis-Van Creveld syndrome, Down syndrome, Hypophosphatasia, Regional odontodysplasia, Cleft lip and palate, Vitamin D-resistant

Max Barrett (1,662 words) [view diff] exact match in snippet view article find links to article

(1956). "Genetic, clinical, biochemical, and pathological features of hypophosphatasia; based on the study of a family". The Quarterly Journal of Medicine

Osteopontin (8,300 words) [view diff] exact match in snippet view article find links to article

particularly relevant to the osteomalacia and odontomalacia observed in hypophosphatasia and X-linked hypophosphatemia. Along with its role in the regulation

Priority review (3,432 words) [view diff] exact match in snippet view article find links to article

Xuriden Orotic aciduria Wellstat Therapeutics Rare pediatric Strensiq Hypophosphatasia Alexion Pharmaceuticals Rare pediatric Kanuma Lysosomal acid lipase

Ehlers–Danlos syndrome (11,606 words) [view diff] exact match in snippet view article find links to article

"A Case of Spondylodysplastic Ehlers–Danlos Syndrome With Comorbid Hypophosphatasia". AACE Clinical Case Reports. 8 (6): 255–258. doi:10.1016/j.aace.2022

Specialty drugs in the United States (9,022 words) [view diff] exact match in snippet view article find links to article

seeking approval of its second drug, Strensiq. It will be used to treat hypophosphatasia, a rare metabolic disorder. In 2015 Alexion estimated that Synageva