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Results for “GALACTOSEMIA”

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PubMed1959

[On the biochemistry of essential pentosuria, congenital galactosemia and phenylketonuria].

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Carbohydrate Metabolism, Inborn Errors↗

PubMed1970

[Enzymatic methods for the diagnosis of galactosemia and galactose deficiency].

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Clinical Enzyme Tests↗

PubMed1965

[Determination of galactose-1-phosphate uridyl transferase in capillary blood in galactosemia. Use in family examinations].

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Adolescent↗

PubMed1990

Plasma 1,5-anhydroglucitol in experimental galactosemia in the rat.

Feeding with a galactose-rich diet induced a substantial drop in blood plasma 1,5-anhydroglucitol concentration. The decline was proportional to the dose of galactose. The decline was less marked in xylose-fed rats.

Animals↗

PubMed1995

Verbal dyspraxia in children with galactosemia.

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Apraxias↗

PubMed1995

Defective galactosylation in galactosemia: is low cell UDPgalactose an explanation?

There is circumstantial evidence that defective galactosylation of complex glycoconjugates exists in tissues from galactosemic patients. Whether this is an etiologic factor in the long-term complications of the disorder is not known. Also not evident is the basis for the impaired galactosylation. The hypothesis that abnormally low cellular uridine diphosphate galactose (UDPgal) content is responsible has not been established. There is a tendency for galactosemic red cell UDPgal to be in the low normal range with a high uridine diphosphate glucose to UDP-gal ratio. This may reflect an inability of red cell UDPgal-4'-epimerase to maintain a normal ratio and consequently higher levels of UDPgal. In the more complex white blood cells and cultured fibroblasts, the UDPgal content and the uridine diphosphate glucose to UDPgal ratio of galactosemics are normal. Therefore, defective galactosylation observed in galactosemic fibroblasts must result from a defect in the transfer of galactose from UDPgal to these moieties.

Galactose↗

PubMed1995