Professor, Pediatrics, University of Cincinnati College of Medicine
Medical Genetics
Dr. Nancy D. Leslie, MD
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Nancy D. Leslie is an expert in the field of Medical Genetics. She attended Washington University School of Medicine in St. Louis. Nancy Leslie is a published doctor. She has 37 publications published. The most current publication "Enzyme therapy for Gaucher disease: the first 5 years."
Publications
- Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.
- Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.
- Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation.
- Evidence-based path to newborn screening for duchenne muscular dystrophy.
- Cardiac disease in methylmalonic acidemia.
- The effects of gestational age and birth weight on false-positive newborn-screening rates.
- Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.
- Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.
- A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31.
- Prolactin signaling through the Short form of its receptor represses forkhead transcription factor FOXO3 and its target gene galt causing a severe ovarian defect.
- Enzyme reconstitution/replacement therapy for lysosomal storage diseases.
- An updated review of the long-term neurological effects of galactosemia.
- Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome.
- Insights into the pathogenesis of galactosemia.
- Evidence for alternate galactose oxidation in a patient with deletion of the galactose-1-phosphate uridyltransferase gene.
- Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week-old animals fed a high-galactose diet.
- Adult psychosocial outcome in early-treated phenylketonuria.
- Galactitol and galactonate accumulation in heart and skeletal muscle of mice with deficiency of galactose-1-phosphate uridyltransferase.
- Haldane was right: de novo mutations in androgen insensitivity syndrome.
- Relation of metabolic control to complications in diabetes mellitus.
- The chicken urokinase-type plasminogen activator gene.
- Plasminogen activator gene expression is induced by the src oncogene product and tumor promoters.
- Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
- Early-treated phenylketonuria: adult neuropsychologic outcome.
- Motor tics, stereotypies, and self-flagellation in primrose syndrome.
- Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency.
- Fever and petechiae in children.
- The human galactose-1-phosphate uridyltransferase gene.
- UDP-galactose pyrophosphorylase in mice with galactose-1-phosphate uridyltransferase deficiency.
- Enzyme therapy for Gaucher disease: the first 5 years.
- Functional analysis of the mouse galactose-1-phosphate uridyl transferase (GALT)promoter.
- A mouse model of galactose-1-phosphate uridyl transferase deficiency.
- Recombinant human acid alpha-glucosidase: major clinical benefits in infantile-onset Pompe disease.
- Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.
- Antenatal corticosteroids and newborn screening for congenital adrenal hyperplasia.
- Review of the use of idursulfase in the treatment of mucopolysaccharidosis II.
Schools
Washington University In St Louis School Of Medicine
Childrens Hospital Med Center
Conditions Treated
- Short Stature
Doctors Specialties
- Pediatric Endocrinology
- Medical Genetics
Accepted Insurances
Education
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Cincinnati Children's Hospital Medical Center -
Washington University School of Medicine in St. Louis
Hospital
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Cincinnati Children's Hospital Medical Center
Helpful Reviews
Medicare Facts
| National Provider Identifier [NPI] | 1225046055 |
| Last Name Of The Provider | LESLIE |
| First Name Of The Provider | NANCY |
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