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Biomedical subjects

A Beaudoing

Publications and source records attributed to A Beaudoing.

At least 37 records · Page 2Linked to original sources
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↗
PubMed1976

[Long-term follow-up of 128 children 13-14 years old, with birth weights of less than 2500 grams].

The records of 128 children, whose birth weight was below 2500 g and who were seen again at the ages of 13-14 years, were analyzed. Owing to the knowledge of the data of the last maternal menses in 115 cases, they could be separated in at-term dysmature, premature dysmature and true premature infants. The comparison between the 3 groups led to the following differences: On average, there is little difference between true premature infants and normal neonatal population, on both somatic and psychological points of view. Physical development is less satisfactory in at-term dysmature infants. If their median of I.Q. is close to normal, high intellectual abilities are rare and mental deficiency more frequent. In the physical, auditory, visual and psycho-motor fields, premature dysmature infants are the most underpriviliged.

Adolescent↗