Mary G. Ampola

Prenatal Therapy of a Patient with Vitamin-B₁₂-Responsive Methylmalonic Acidemia

Mary G. Ampola, Maurice J. Mahoney, Eiichi Nakamura et al. · New England Journal of Medicine · 1975 · 131 citations

Agriculture, Nutrition, Obstetrics +17

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

Mira Irons, Ellen Roy Elias, G S Tint et al. · American Journal of Medical Genetics · 1994 · 104 citations

Life Sciences, Biochemistry, Pathobiology +17

New England Maternal PKU Project: Prospective study of untreated and treated pregnancies and their outcomes

Frances Rohr, Lauren Doherty, Susan E. Waisbren et al. · The Journal of Pediatrics · 1987 · 60 citations

Medicine, Maternal Health, Obstetrics +12

Beta Mercaptolactate-Cysteine Disulfide: Analog of Cystine in the Urine of a Mentally Retarded Patient

J.C. Crawhall, Robin Parker, W. Bruce Sneddon et al. · Science · 1968 · 55 citations

Life Sciences, Biochemistry, Clinical Biochemistry +3

Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap

S. Harvey Mudd, Nancy Braverman, Martin G. Pomper et al. · Molecular Genetics and Metabolism · 2003 · 55 citations

Medicine, Biochemistry, Pediatrics +16