Physician

Internal Medicine

Dr. Louis Elsas, MD

Louis Elsas works in the field of Internal Medicine. She studied medicine at University of Virginia School of Medicine. She received awards:"Elected Member" and "Super Doctor". Dr. Louis Elsas is a published doctor as well. She has 14 publications published. The latest was: The effect of blood phenylalanine concentration on Kuvanâ„¢ response in phenylketonuria.

Publications

The effect of blood phenylalanine concentration on Kuvanâ„¢ response in phenylketonuria.
Screening newborns for galactosemia using total body galactose oxidation to CO2 in expired air.
Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.
A structure-function study of MID1 mutations associated with a mild Opitz phenotype.
The history of the SIMD: from small molecules to metabolomics.
Prevention of a molecular misdiagnosis in galactosemia.
Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria.
Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors.
Verbal dyspraxia and galactosemia.
Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes.
Cessation of enzyme replacement therapy in Gaucher disease.
Characterization of a carbohydrate response element regulating the gene for human galactose-1-phosphate uridyltransferase.
A clinical approach to legal and ethical problems in human genetics.

Schools

University of Virginia Main Campus
Yale New Haven Hospital
New Haven Hospital Yale

Doctors Specialties

Clinical Biochemical Genetics
Clinical Genetics
Clinical Molecular Genetics
Internal Medicine

Accepted Insurances

Awards

Elected Member
Super Doctor

Education

Yale-New Haven Hospital
University of Virginia School of Medicine

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