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Biomedical subjects

C L Greene

Publications and source records attributed to C L Greene.

30 records · Page 2Linked to original sources
PubMed1984

3-Hydroxy-3-methylglutaric aciduria.

3-Hydroxy-3-methylglutaric aciduria was found in a newborn infant whose parents are first cousins. The patient presented at 5 days of life with hyperammonemia, hypoglycemia, and metabolic acidosis. There was no ketonuria. Diagnosis was made by analysis of the pattern of organic acids excreted in the urine. A profound deficiency in activity of 3-hydroxy-3-methylglutaryl-coenzyme A lyase was found in cultured skin fibroblasts. The parents had intermediate levels of enzyme activity.

Cells, Cultured↗
PubMed1982

Probable clonal origin of neurofibrosarcoma in a patient with hereditary neurofibromatosis.

A neurofibroma, a fibroma, a primary neurofibrosarcoma, and four neurofibrosarcoma metastases from a woman with hereditary neurofibromatosis who was heterozygous (GdB/GdA-) for the X-linked enzyme glucose-6-phosphate dehydrogenase were studied to determine the number of cells from which the tumors developed. Both enzyme types were observed in the benign tumors in proportions similar to those present in seven different normal tissues studied. These findings indicated that the benign tumors arose from many cells. In marked contrast, only type A activity was detected in the primary neurofibrosarcoma and in all of the metastases. Two or more steps probably were involved in the development of neurofibrosarcoma in this patient: the inherited genetic mutation producing neurofibromatosis and a rare event or combination of events that permitted a single cell to undergo malignant proliferation.

Adult↗
PubMedDate not supplied

Update on inborn errors of metabolism: primary lactic acidemia.

Initially thought to be rare, primary lactic acidemia is diagnosed with increasing frequency. Elevations in lactate and pyruvate are markers for a variety of metabolic blocks. Although there have been great strides made in the diagnosis and treatment of lactic acidemia, much remains to be learned. As laboratory techniques improve, clinicians will be able to make an exact enzymatic diagnosis on an increasing percentage of patients. Specific enzymatic diagnosis also will help clinicians determine inheritance patterns, recurrence risks, and methods of prenatal diagnosis.

Acidosis, Lactic↗