National Awards “Science and Research”
NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.
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The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.
SMITH-LEMLI-OPITZ SYNDROME. CASE REPORT
Sorin Ioan Iurian, Livia Ognean, Han Brunner, Leo Kluijtmans, Petr Jira, Dana Fintina and Bogdan Ionut Mehedintu
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal-recessive inherited disease characterized by multiple anomalies secondary to cholesterol synthesis impairment. The authors present diagnosis peculiarities and limitation of treatment options in a 5-weeks old infant with ambiguous genitalia.
Keywords: Smith-Lemli-Opitz syndrome, infant, hypocholesterolemia