Mary Ampola

Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress

JAMA · 2003 · 280 citations

Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient

Case report · American Journal of Medical Genetics · 1994 · Last of 7 authors · 84 citations