L
Louis J. Elsas
Researcher at Emory University
Publications - 136
Citations - 7307
Louis J. Elsas is an academic researcher from Emory University. The author has contributed to research in topics: Insulin & Insulin receptor. The author has an hindex of 42, co-authored 136 publications receiving 7053 citations. Previous affiliations of Louis J. Elsas include Children's Hospital of Philadelphia & Grady Memorial Hospital.
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Journal ArticleDOI
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
Douglas C. Wallace,Gurparkash Singh,Marie T. Lott,Judy A. Hodge,Theodore G. Schurr,Angela M. S. Lezza,Louis J. Elsas,Eeva K. Nikoskelainen +7 more
TL;DR: This finding demonstrated that a nucleotide change in a mitochondrial DNA energy production gene can result in a neurological disease.
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Verification of the fetal valproate syndrome phenotype.
Holly H Ardinger,Joan F. Atkin,R D Blackston,Louis J. Elsas,Sterling K. Clarren,S Livingstone,D B Flannery,J M Pellock,Mary Jo E. Harrod,Edward J. Lammer +9 more
TL;DR: No consistent alterations of pre- or postnatal growth with exposure to VPA monotherapy is found and the types of defects associated with maternal VPA use may be clarified when classified by pathogenetic mechanism.
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Biochemical and neuropsychological effects of elevated plasma phenylalanine in patients with treated phenylketonuria. A model for the study of phenylalanine and brain function in man.
TL;DR: Ten older, treated, phenylketonuric patients using a triple-blind, multiple trials, crossover design are studied, finding an inverse relationship between plasma phenylalanine and urine dopamine excretion and one mechanism may involve impaired biogenic amine synthesis.
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US Newborn Screening System Guidelines II: Follow-up of Children, Diagnosis, Management, and Evaluation Statement of the Council of Regional Networks for Genetic Services (CORN)
Kenneth A. Pass,Peter A. Lane,Paul M. Fernhoff,Cynthia F. Hinton,Susan R. Panny,John S. Parks,Mary Z. Pelias,William J. Rhead,Sonya I. Ross,Doris L. Wethers,Louis J. Elsas +10 more
TL;DR: State NBS programs reflect the need for a coordinated system of services for follow-up, diagnosis, and treatment of children identified with a disorder requiring special health care services.
Journal ArticleDOI
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene
L. A. Tyfield,Juergen K. V. Reichardt,Judy Fridovich-Keil,David T. Croke,Louis J. Elsas,W Strobl,Libor Kozák,Turgay Coşkun,Giuseppe Novelli,Yoshiyuki Okano,Cezary Zekanowski,Yoon S. Shin,Ma Dolores Boleda +12 more
TL;DR: The considerable genetic heterogeneity documented to date undoubtedly contributes to the phenotypic heterogeneity that is observed in galactosemia and the additional effects of nonallelic variation and other constitutional factors on phenotypesic variability remain to be elucidated.