Biomedical subjects

J Sanchez-Corona

Publications and source records attributed to J Sanchez-Corona.

23 records · Page 2Linked to original sources

PubMed1980

A simple screening procedure for adenylate kinase, hexokinase and glucose-6-phosphate dehydrogenase deficiencies.

A simple screening procedure for the detection of adenilate kinase (AK), hexokinase (Hx) or glucose-6-phosphate dehydrogenase (G6PD) deficiencies in blood, is described. It consists of two assays : in the first, the ATP formed by blood AK is coupled to Hx and G6PD, and in the second, the glucose-6-phosphate formed by blood Hx is coupled to G6PD. The enzyme activities are visually estimated by the reduction of NADP+ (non-fluorescent) to NADH (fluorescent). The appearance of fluorescence in the first assay indicates that the three enzyme activities are present. The absence of fluorescence could be due to the deficiency of any one of the three enzymes; in this case the second assay used in combination with the Beutler's screening test for G6PD permits the detection of the specific enzymatic deficiency.

Adenylate Kinase↗

PubMed1980

A simple assay for uridine diphosphate galactose 4-epimerase activity.

A simple fluorescent test for the activity of blood uridine diphosphate galactose 4-epimerase which converts uridine diphosphate galactose to uridine diphosphate glucose is described. The enzyme activity is visually estimated by to reduction of NAD+ (non fluorescent) to NADH (fluorescent) in a coupled reaction with uridine diphosphate glucose dehydrogenase. The appearance of fluorescence indicates that epimerase activity is present in the sample. The usefulness of this test in newborn screening programs for inborn errors of galactose metabolism is stressed.

Carbohydrate Epimerases↗

PubMed1979

A simple rapid fluorescent assay for adenosine deaminase activity.

A simple, rapid (2 hours), fluorescent test for the activity of blood adenosine deaminase (ADA) is described. The test which can be performed on both heparinized and dried blood, is based on the conversion of adenosine to inosine and ammonium in the presence of ADA. The enzyme activity is visually estimated by the oxidation of NADH (fluorescent) to NAD+ (non-fluorescent) in a coupled reaction with glutamate dehydrogenase. The disappearance of fluorescence indicates ADA activity in the sample. The advantages are discussed of the use of this test for the study of the autosomal recessive severe combined immunodeficiency.

Adenosine Deaminase↗

PubMed1979

Some clinical and cytogenetic observations on a ring chromosome 13 (p11 q34).

A girl of 9-10/12 years of age with 46,XX,r(13)(p11q34) karyotypes was studied. She presented some clinical and radiological features, such as pectus excavatum, scalp alopecic area, 12th rib agenesis, hypoplastic pelvis, small gluteal pits and hypoplasia of the external genitalia in a female, which have never been previously described in other cases with ring 13 chromosomes. Cytogenetically, in vivo and in vitro viability of complete monosomic and partially trisomic and tetrasomic cells was found. The presence of nucleolus organizer regions and association of the ring 13 with other acrocentrics question the exclusivity of these attributes to acrocentrics p12.

Abnormalities, Multiple↗

PubMed1978

Galactosemia as a result of galactose-1-phosphate uridyltransferase deficiency.

This study was designed to determine the activity of galactose-1-phosphate uridyltransferase enzyme in a family (parents and eight children): four of these with clinical diagnosis of classical galactosemia. In two of them a complete transferase deficiency was found, thus confirming diagnosis; the other two, a pair of dizygotic twins, who since birth up to 11 years of age had been on a galactose free diet, showed enzymatic activity consistent with normal heterozygotes, one of them, and with normal homozygotes, the other. The parents and four brothers had the same enzyme activity levels an those found in heterozygotes for galactosemia. Early diagnosis is of utmost importance in classical galactosemia, and we emphasize this point because patients can be treated with dietotherapy and primary prevention is possible through genetic counseling.

Adolescent↗