Physician
Medical Genetics
Dr. Mary G. Ampola, MD
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Mary Ampola practices Medical Genetics. She went to medical school at State University of New York Upstate Medical University. Mary Ampola is also published. She has 15 publications published. The lastest publication: "Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review.'
Publications
- Determination of phenylalanine and tyrosine in dried blood specimens by ion-exchange chromatography using the Hitachi L-8800 analyzer.
- Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress.
- Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap.
- Newborn screening compared to clinical identification of biochemical genetic disorders.
- New England Consortium: a model for medical evaluation of expanded newborn screening with tandem mass spectrometry.
- Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review.
- Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient.
- Diagnosis of unsuspected fetal metabolic storage disease by routine placental examination.
- Transient neonatal hyperglycinemia.
- New England Maternal PKU Project: prospective study of untreated and treated pregnancies and their outcomes.
- Congenital expression of prolidase defect in prolidase deficiency.
- The prognosis of hyperlysinemia: an interim report.
- Phenylketonuria and other disorders of amino acid metabolism.
- The aminoacidurias.
Schools
Upstate Medical University College of Health Professions
George Washington University Med Center
Chldns Hospital
Mass Genl Hospital Chldns Hospital
Doctors Specialties
- Pediatrics
- Medical Genetics
Accepted Insurances
Education
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Massachusetts General Hospital -
Children's National Medical Center - George Washington University -
George Washington University -
State University of New York Upstate Medical University
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