منابع مشابه
Type II hyperprolinemia: a case report.
Hyperprolinemia type II (HP II) is a rare inherited metabolic disease due to the deficiency of pyroline-5-carboxylate dehydrogenase. It is generally believed to be a benign condition although some patients have neurological problems such as refractory convulsions. Here we report a six-year-old girl with HP II who admitted to our hospital with recurrent seizure refractory to multiple antiepilept...
متن کاملType I hyperprolinemia: genotype/phenotype correlations.
Type I hyperprolinemia (HPI) is an autosomal recessive disorder associated with cognitive and psychiatric troubles, caused by alterations of the Proline Dehydrogenase gene (PRODH) at 22q11. HPI results from PRODH deletion and/or missense mutations reducing proline oxidase (POX) activity. The goals of this study were first to measure in controls the frequency of PRODH variations described in HPI...
متن کاملType Ia Supernovae
Type Ia Supernovae are in many aspects still enigmatic objects. Their observational and theoretical exploration is in full swing, but we still have plenty to learn about these explosions. Recent years have already witnessed a bonanza of supernova observations. The increased samples from dedicated searches have allowed the statistical investigation of Type Ia Supernovae as a class. The observati...
متن کاملThe Type Ia Supernova
We present the rst measurement of the rate of Type Ia super-novae at high redshift. The result is derived using a large subset of data from the Supernova Cosmology Project as described in more detail at this meeting by Perlmutter et al. (1996). We present our methods for estimating the numbers of galaxies and the number of solar luminosities to which the survey is sensitive, the supernova detec...
متن کاملDust around Type Ia supernovae
An explanation is given of the low value of Rλ ≡ Aλ/E(B − V ), the ratio of absolute to selective extinction deduced from Type Ia supernova observations. The idea involves scattering by dust clouds located in the circumstellar environment, or at the highest velocity shells of the supernova ejecta. The scattered light tends to reduce the effective Rλ in the optical, but has an opposite effect in...
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ژورنال
عنوان ژورنال: Journal of Inborn Errors of Metabolism and Screening
سال: 2017
ISSN: 2326-4098,2326-4594
DOI: 10.1177/2326409817707772