Search Results - "Elsas, Louis"

Galactose toxicity in animals by Lai, Kent, Elsas, Louis J., Wierenga, Klaas J.

“…In most organisms, productive utilization of galactose requires the highly conserved Leloir pathway of galactose metabolism. Yet, if this metabolic pathway is…”
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Introduction to the Maastricht workshop: lessons from the past and new directions in galactosemia by Berry, Gerard T., Elsas, Louis J.

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Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization by Fan, Yao-Shan, Jayakar, Parul, Zhu, Hongbo, Barbouth, Deborah, Sacharow, Stephanie, Morales, Ana, Carver, Virginia, Benke, Paul, Mundy, Peter, Elsas, Louis J

“…Genomic imbalance is a major cause of developmental disorders. Microarray-based comparative genomic hybridization (aCGH) has revealed frequent imbalances…”
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The effect of blood phenylalanine concentration on Kuvan™ response in phenylketonuria by Elsas, Louis J., Greto, Josephine, Wierenga, Andrea

“…Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase gene (PAH) with consequent elevation of blood phenylalanine (Phe), reduction in…”
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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) by Pass, Kenneth A., Lane, Peter A., Fernhoff, Paul M., Hinton, Cynthia F., Panny, Susan R., Parks, John S., Pelias, Mary Z., Rhead, William J., Ross, Sonya I., Wethers, Doris L., Elsas, Louis J.

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Risk factors for premature ovarian failure in females with galactosemia by Guerrero, Nicole V., Singh, Rani H., Manatunga, Amita, Berry, Gerard T., Steiner, Robert D., Elsas II, Louis J.

“…The risk for premature ovarian failure (POF) in females with galactosemia can be predicted by analyzing 3 areas of risk pathology: the patient’s molecular…”
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Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene by Tyfield, Linda, Reichardt, Juergen, Fridovich-Keil, Judy, Croke, David T., Elsas II, Louis J., Strobl, Wolfgang, Kozak, Libor, Coskun, Turgay, Novelli, Giuseppe, Okano, Yoshiyuki, Zekanowski, Cezary, Shin, Yoon, Boleda, Ma Dolores

“…Classical galactosemia is caused by a deficiency in activity of the enzyme galactose‐1‐phosphate uridyl transferase (GALT), which, in turn, is caused by…”
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The history of the SIMD: From small molecules to metabolomics by Elsas, Louis J.

“…The Society for Inherited Metabolic Disorders (SIMD) recently completed its 28th annual meeting and requested that its birth and development be documented…”
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A structure–function study of MID1 mutations associated with a mild Opitz phenotype by Mnayer, Laila, Khuri, Sawsan, Al-Ali Merheby, Hassan, Meroni, Germana, Elsas, Louis J.

“…The X-linked form of Opitz syndrome (OS) affects midline structures and produces a characteristic, but heterogeneous, phenotype that may include severe mental…”
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Cessation of enzyme replacement therapy in Gaucher disease by Grinzaid, Karen A, Geller, Eleanor, Hanna, Soheil L, Elsas, 2nd, Louis J

“…Enzyme replacement therapy (ERT) is a promising therapeutic intervention for lysosomal storage diseases. Posttranslationally engineered human…”
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Verbal dyspraxia and galactosemia by WEBB, Amy Leigh, SINGH, Rani H, KENNEDY, Mary Jane, ELSAS, Louis J

“…Classical galactosemia is an autosomal recessive disorder resulting from deficient galactose-1-phosphateuridyl transferase (GALT) activity. Verbal dyspraxia is…”
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Screening Newborns for Galactosemia Using Total Body Galactose Oxidation to CO2 in Expired Air by BARBOUTH, Deborah S, VELAZQUEZ, Darcy L, KONOPKA, Stanley, WILKINSON, J. James D, CARVER, Virginia H, ELSAS, Louis J

“…Classic galactosemia is caused by impaired galactose-1-phosphate uridyltransferase (GALT EC 2.7.712). If discovered and treated within the first days of life,…”
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Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy by Wallace, Douglas C., Singh, Gurparkash, Lott, Marie T., Hodge, Judy A., Schurr, Theodore G., Angela M. S. Lezza, Elsas, Louis J., Nikoskelainen, Eeva K.

“…Leber's hereditary optic neuropathy is a maternally inherited disease resulting in optic nerve degeneration and cardiac dysrhythmia. A mitochondrial DNA…”
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Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors by Acosta, Phyllis B., Yannicelli, Steven, Singh, Rani H., Elsas, Louis J., Mofidi, Shideh, Steiner, Robert D.

“…Purpose: The purpose of the study was to determine the incidence of iron deficiency in children undergoing therapy for phenylketonuria using serum transferrin…”
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Prevention of a molecular misdiagnosis in galactosemia by Barbouth, Deborah, Slepak, Tatiana, Klapper, Helene, Lai, Kent, Elsas, Louis J

“…The polymerase chain reaction is generally used for mutational analysis of the galactose-1-phosphate uridyl transferase (GALT) gene in the diagnosis of…”
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Cystathionine β-synthase deficiency: Effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria by Singh, Rani H., Kruger, Warren D., Wang, Liqun, Pasquali, Marzia, Elsas, Louis J.

“…Purpose: For treatment of cystathionine β-synthase (CβS) deficiency, we determined the effect of betaine (N, N, N-trimethylglycine) therapy and examined the…”
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Gaucher disease: In vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes by Zhao, Huiquan, Bailey, Laurie A., Elsas II, Louis J., Grinzaid, Karen A., Grabowski, Gregory A.

“…Gaucher disease, a common lysosomal storage disorder, is associated with mutations at the acid β‐glucosidase (GCase) locus. Two affected individuals are…”
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Prenatal diagnosis of galactose-1-phosphate uridyltransferase (GALT)-deficient galactosemia by Elsas, Louis J.

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Galactose breath testing distinguishes variant and severe galactose-1-phosphate uridyltransferase genotypes by BERRY, G. T, SINGH, R. H, ELSAS, L. J, MAZUR, A. T, GUERRERO, N, KENNEDY, M. J, JIE CHEN, REYNOLDS, R, PALMIERI, M. J, KLEIN, P. D, SEGAL, S

“…A galactose breath test that quantitates [1-(13)C]galactose conversion to 13CO2 provides information on the whole body galactose oxidative capacity. As there…”
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Characterization of a carbohydrate response element regulating the gene for human galactose-1-phosphate uridyltransferase by Elsas, Louis J., Webb, Aimee L., Langley, Sharon D.

“…Human galactose-1-phosphate uridyltransferase (hGALT) is a central enzyme in the conserved pathway by which galactose is converted to energy, UDP-galactose and…”
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