Mild Hypophosphatasia In Utero

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Successful gene therapy in utero for lethal murine hypophosphatasia.

Hypophosphatasia (HPP), caused by mutations in the gene ALPL encoding tissue-nonspecific alkaline phosphatase (TNALP), is an inherited systemic skeletal disease characterized by mineralization defects of bones and teeth. The clinical severity of HPP varies widely, from a lethal perinatal form to mild odontohypophosphatasia showing only dental manifestations. HPP model mice (Akp2(-/-)) phenotypi...

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In utero progression of mild fetal ventriculomegaly.

OBJECTIVE To evaluate the progression in utero of mild isolated fetal ventriculomegaly (defined as a transverse diameter of the atrium of the lateral ventricle measuring between 10 and 15 mm), and to estimate the proportion of fetuses that normalize (diameter decreasing to less than 10mm), stabilize (remaining between 10 and 15 mm), or progress to more severe ventriculomegaly (becoming greater ...

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Hypophosphatasia

Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The prevalence of severe forms of the disease has been estimated at 1/100 000. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without mineralized bone to early loss of teeth without bo...

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Hypophosphatasia in the Newborn.

Rathbun (1948) first described the syndrome of hypophosphatasia as a definite entity, although previous authors had described patients now thought to be examples of this syndrome. This disorder has also been called rickets with deficiency of alkaline phosphatase (Sobel, Clark, Fox and Robinow, 1953; Schlesinger, Luder and Bodian, 1955) and osteodysmetamorphosis foetalis (Engfeldt and Zetterstro...

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Transformative therapy in hypophosphatasia

Hypophosphatasia (HPP) is a rare, potentially life-threatening disease characterised by hypomineralisation of bones and teeth. The fundamental defect is reduced functional activity of the enzyme tissue-nonspecific alkaline phosphatase (usually just termed alkaline phosphatase [ALP] in clinical practice). Homozygous or compound heterozygous mutations in the ALPL gene result in the most severe ph...

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ژورنال

عنوان ژورنال: Journal of Ultrasound in Medicine

سال: 2005

ISSN: 0278-4297

DOI: 10.7863/jum.2005.24.5.707