Publications by authors named "Louis J Elsas"

15Publications

The effect of blood phenylalanine concentration on Kuvan™ response in phenylketonuria.

Mol Genet Metab 2011 Apr 13;102(4):407-12. Epub 2010 Dec 13.

Department of Biochemistry and Molecular Biology, Pediatrics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.

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April 2011

Galactose toxicity in animals.

IUBMB Life 2009 Nov;61(11):1063-74

Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.

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November 2009

Prevention of a molecular misdiagnosis in galactosemia.

Genet Med 2006 Mar;8(3):178-82

Dr. John T. Macdonald Foundation Center for Medical Genetics, Department of Pediatrics and Biochemistry, Miller School of Medicine, University of Miami, FL 33136, USA.

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March 2006

The history of the SIMD: from small molecules to metabolomics.

Authors:
Louis J Elsas

Mol Genet Metab 2006 Mar;87(3):204-9

The Dr. John T. Macdonald Foundation, Center for Medical Genetics, P.O. Box 016820 (D820), Miami, FL 33101, USA.

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March 2006

A structure-function study of MID1 mutations associated with a mild Opitz phenotype.

Mol Genet Metab 2006 Mar;87(3):198-203

The Dr. John T. Macdonald Foundation Center for Medical Genetics, University of Miami Miller School of Medicine, Miami, FL, USA.

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March 2006

Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria.

Genet Med 2004 Mar-Apr;6(2):90-5

Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA.

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October 2004

Verbal dyspraxia and galactosemia.

Pediatr Res 2003 Mar;53(3):396-402

Emory University Graduate School of Arts and Sciences, Department of Biological and Biomedical Sciences, Division of Nutrition and Health Sciences, Atlanta, Georgia 30322, USA.

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March 2003

Cessation of enzyme replacement therapy in Gaucher disease.

Genet Med 2002 Nov-Dec;4(6):427-33

Department of Pediatrics, Division of Medical Genetics, Emory University, Atlanta, Georgia 30322, USA.

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May 2003

Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes.

Am J Med Genet A 2003 Jan;116A(1):52-6

Division and Program in Human Genetics, Children's Hospital Research Foundation, Cincinnati, Ohio, USA.

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January 2003

Characterization of a carbohydrate response element regulating the gene for human galactose-1-phosphate uridyltransferase.

Mol Genet Metab 2002 Aug;76(4):287-96

Department of Pediatrics, Division of Medical Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA.

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August 2002