Can I read Smith-Lemli-Opitz syndrome: Thirty-year follow-up of “S” of “RSH” syndrome on EtoBox?

Smith-Lemli-Opitz syndrome: Thirty-year follow-up of “S” of “RSH” syndrome by Pauli, Richard M.; Williams, Marc S.; Josephson, Kevin D.; Tint, G. S. is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Smith-Lemli-Opitz syndrome: Thirty-year follow-up of “S” of “RSH” syndrome about?

We have reassessed patient "S," one of the first 3 individuals recognized to have Smith-Lemli-Opitz (or RSH) syndrome, at age 34 years, and we describe his physical, developmental, and behavioral manifestations. This reassessment provides formal evidence that this individual has the cholesterol biosynthetic defect which is thought to be the cause of Smith-Lemli-Opitz syndrome. Dietary manipulation appears to have had a beneficial effect on the patient's behavior and suggests that even in adults with this condition, dietary cholesterol supplementation may be indicated. Am.

Who reads Smith-Lemli-Opitz syndrome: Thirty-year follow-up of “S” of “RSH” syndrome?

Author

Pauli, Richard M.; Williams, Marc S.; Josephson, Kevin D.; Tint, G. S.

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)

Published

1997

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)