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Biomedical subjects

C Gregori

Publications and source records attributed to C Gregori.

At least 37 records · Page 2Linked to original sources

[Exodontia].

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Humans↗

Prenatal diagnosis of galactosemia.

We have monitored 3 pregnancies at risk for galactosemia by deficiency in Galactose-1-Phospho uridyl transferase. Galactosemia was diagnosed in the 1st case; heterozygoty in the 2nd, and a "double heterozygoty" in the 3rd. The latter is the first example of such a diagnosis. Post natal confirmation was obtained in the three cases. Arguments are given for the usefulness of this prenatal diagnosis.

Amniocentesis↗

Isoelectrofocusing of aldolase B from normal human livers and from livers with hereditary fructose intolerance.

By isoelectrofocusing in thin-layer acrylamide-ampholine gel, normal human aldolase B has been resolved into 5 bands. Moreover we were able to specifically stain (after isoelectrofocusing) the mutated aldolase B in livers with hereditary fructose intolerance, and to show that only the 3 most anodic bands are seen. Some different hypotheses are discussed to account for the microheterogeneity of the normal aldolase B, and for the different isoelectrofocusing pattern found in livers with hereditary fructose intolerance.

Carbohydrate Metabolism, Inborn Errors↗