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J L Pousset

Publications and source records attributed to J L Pousset.

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

[Isovaleric acidemia. Study and treatment in 3 brothers].

The cases of 3 sibs presenting with isovaleric acidemia are reported. The first infant died when he was 9 day-old. The two others appear to have benefited from a controlled leucine diet which was introduced from the first days on of life. The clinical symptomatology, highly typical of the disease, is described. Diagnosis was not assessed on amino-acids chromatography but on the chromatography of volatile fatty acids. The mode of treatment is described: peritoneal dialysis, with the object of rounding a crucial cape, and overall controlled leucine diet, but supplemented by essential amino-acids.

Amino Acid Metabolism, Inborn Errors↗