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Biomedical subjects

J Jaeken

Publications and source records attributed to J Jaeken.

At least 199 records · Page 11Linked to original sources
PubMed1979

Determination of lysosomal enzymes in saliva. Confirmation of the diagnosis of metachromatic leukodystrophy and fucosidosis by enzyme analysis.

This paper deals with the measurement of acid hydrolases in uncentrifuged and centrifuged saliva of normal controls and the determination of some of their physical characteristics such as pH optimum, thermal stability, and residual activity after freezing and storage. From this study it appears that beta-D-glucosidase sediments totally, whereas the other enzymes show varying residual activity in the supernatant after centrifugation. In the saliva from 2 patients with metachromatic leukodystrophy and 2 patients with fucosidosis a deficiency of arylsulphatase A and alpha-L-fucosidase, respectively, was found.

Carbohydrate Metabolism, Inborn Errors↗
PubMed1979

Partial trisomy 22q with elevated arylsulfatase-A activity.

A two years-old, severely mentally retarded male is reported with 22q trisomy. After the recent confirmation of the localisation of arylsulfatase-A (ARSA) on chromosome 22, the elevated activity of this enzyme (about 1,5 times the normal values) in the present patient may be another example of a gene dosage effect in autosomal imbalance.

Cerebroside-Sulfatase↗
PubMed1977

The Poland syndrome.

Explore the source record for details and available documents.

Abnormalities, Multiple↗
PubMed1975

Methylmalonic acidaemia and nonketotic hyperglycinaemia. Clinical and biochemical aspects.

The clinical and metabolic data of 2 cases of methylmalonic acidaemia with propionic acidaemia are reported together with those of 3 other patients with nonketotic hyperglycinaemia. Liver enzymatic studies showed decreased activity in vitro of the glycine cleavage enzyme in one patient with methylmalonic acidaemia as well as in 2 unrelated patients with nonketotic hyperglycinaemia, while the activity of the serine hydroxymethylase enzyme was normal. Hyperammonaemia was substantiated in one patient with methylmalonic acidaemia and also in one child with nonketotic hyperglycinaemia. The activity of the enzymes of the urea cycle, determined in the liver of this nonketotic child, was normal except for a decrease of the carbamyl phosphate synthetase enzyme to 15% of normal.

Amino Acid Metabolism, Inborn Errors↗