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Biomedical subjects

Y Nordmann

Publications and source records attributed to Y Nordmann.

At least 163 records · Page 9Linked to original sources
PubMed1976

The spectrophotometric determination of uroporphyrinogen I synthetase activity.

A simple spectrophotometric method for uroporphyrinogen I synthetase in erythrocytes is described. Results obtained on intermittent acute porphyria patients and carriers are similar to the results obtained with fluorimetric methods. Reproducibility, relationship between enzyme activity and enzyme concentration, and effect of time on enzymatic activity are described.

Ammonia-Lyases↗
PubMed1975

[Hereditary coproporphyria. 7 cases].

Hereditary coprophyria, known since 1955, is a rare variety of hepatic porphyria. The clinical picture is similar to that of acute intermittent porphyria with certain minor differences; neurological manifestations being rarer in particular. The essential biological characteristic is the massive excretion, in the urine and faeces, of coproporphyrins whilst the excretion of porphobilinogen and delta-amino-laevulinic acid is only slightly increased. As in acute intermittent porphyria, certain medications have an adverse effect, especially the barbiturates. The exact nature of the biochemical lesion is not understood but its hereditary nature has been demonstrated. 25 families have been reported in the literature up to the present time. The authors report two cases of hereditary coproporphyria with peripheral paralysis and respiratory failure, the outcome being fatal in one case. Study of the families led to the discovery of 3 other cases in the second family and 2 latent forms in the first.

Adolescent↗
PubMed1975

Free erythrocyte protoporphyrin level and nerve conduction velocity in end-stage renal disease.

Increased free erythrocyte protoporphyrin concentrations and depressed motor nerve conduction velocities (MNCV) were observed in 45 patients on maintenance haemodialysis. Neither of these findings could be correlated with age, duration or frequency of dialysis, or the degree of uraemia present. A strong negative correlation (r=--0-53; P less than 0-001), however, existed between the free erythrocyte protoporphyrin level and the MNCV, which suggested either (a) a direct effect of iron status on nerve function, or (b) a toxic factor in "uraemia" that depresses both nerve conduction and haemsynthetase activity.

Adult↗
PubMed1975

[Acute intermittent porphyria. Detection of asymptomatic carriers of the genetic defect].

Measurement of uroporphyrinogen I synthetase activity in red blood cells indicates a 40-50 p.cent decrease in patients with intermittent acute porphyria (30 +/- 6 units) when compared to normal control subjects (50 +/- 8 units). This measurement makes relatively easy the detection of asymptomatic carriers of the genetic defect, as early as the first day of life.

Acute Disease↗
PubMed1975

[Determination of hemoglobin in gastric juice].

Among the complications of surgical operations gastric haemorrhages are often unpredictable. Detecting them during the infraclinical stage is possible by measuring hemoglobin in the gastric juice. We have adopted a method allowing the measurement of very low concentrations of hemoglobin.

Gastric Juice↗
PubMed1972

[Fructose intolerance].

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Carbohydrate Metabolism, Inborn Errors↗