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Biomedical subjects

M Bost

Publications and source records attributed to M Bost.

At least 145 records · Page 8Linked to original sources
PubMed1977

[Ring-20 chromosome: a new syndrome].

A comparative study of five observations of a r (20) syndrome characterized by facial dysmorphism, the absence of severe malformations, and rather late onset of encephalopathy and seizures.

Brain Diseases↗
PubMed1977

[Still another cause of hypermethioninemia in children: S-adenosylmethionine synthetase deficiency].

One case of hypermethioninaemia discovered on systematic neonatal screening examination is reported. This metabolic disorder was associated with growth retardation, anorexia, digestive disturbances, and a strong smell of "boiled cabbage" in urine and sweat. With a 6-year follow up, psychomotor and growth developments were excellent under a low methionine containing diet, in spite of a persistent pathological hypermethioninaemia. A deficiency in S-adenosyl-methionine synthetase and an abnormal kinetics of this enzyme were found in a liver tissue sample obtained by biopsy. Otherwise, the excretion of alpha-keto-gamma-methyl-thiobutyric acid was increased with, however, no abnormality in the metabolism of folates. Finally, the probability of an autosomal recessive transmission is discussed.

Amino Acid Metabolism, Inborn Errors↗