[Endocrine consequences of beta thalassemia major].
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Biomedical subjects
Publications and source records attributed to C Lambotte.
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The treatment comprising a special diet (without glycine, serine, and with a reduced amount of threonine), strychnine nitrate and ursodesoxycholic acid (UDCA) led to normoglycinaemia in this form of severe non-ketotic glycine encephalopathy. Diet and treatment were well tolerated but without significant effect upon psychomotor development. This treatment should be more effective if administered before irreversible brain damage occurs, particularly in moderate and chronic forms of NKH.
Sixteen observations of the "VACTERL association" associated with hydrocephaly and acqueductal stenosis are presented. The mode of inheritance is probably autosomal dominant. Expression is variable.
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