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31 results on '"Diaz, G.A."'

3. MINERvA neutrino detector response measured with test beam data

Author

Aliaga, L., Altinok, O., Araujo Del Castillo, C., Bagby, L., Bellantoni, L., Bergan, W.F., Bodek, A., Bradford, R., Bravar, A., Budd, H., Butkevich, A., Martinez Caicedo, D.A., Carneiro, M.F., Christy, M.E., Chvojka, J., da Motta, H., Devan, J., Díaz, G.A., Dytman, S.A., Eberly, B., Felix, J., Fields, L., Fine, R., Flight, R., Gago, A.M., Gingu, C., Golan, T., Gomez, A., Gran, R., Harris, D.A., Higuera, A., Howley, I.J., Hurtado, K., Kleykamp, J., Kordosky, M., Lanari, M., Le, T., Leister, A.J., Lovlein, A., Maher, E., Mann, W.A., Marshall, C.M., McFarland, K.S., McGivern, C.L., McGowan, A.M., Messerly, B., Miller, J., Miller, W., Mislivec, A., Morfín, J.G., Mousseau, J., Muhlbeier, T., Naples, D., Nelson, J.K., Norrick, A., Ochoa, N., O׳Connor, C.D., Osmanov, B., Osta, J., Paolone, V., Patrick, C.E., Patrick, L., Perdue, G.N., Pérez Lara, C.E., Rakotondravohitra, L., Ray, H., Ren, L., Rodrigues, P.A., Rubinov, P., Rude, C.R., Ruterbories, D., Schellman, H., Schmitz, D.W., Solano Salinas, C.J., Tagg, N., Tice, B.G., Urrutia, Z., Valencia, E., Walton, T., Westerberg, A., Wolcott, J., Woodward, N., Wospakrik, M., Zavala, G., Zhang, D., and Ziemer, B.P.

Published
2015
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4. Design, calibration, and performance of the MINERvA detector

Author

Aliaga, L., Bagby, L., Baldin, B., Baumbaugh, A., Bodek, A., Bradford, R., Brooks, W.K., Boehnlein, D., Boyd, S., Budd, H., Butkevich, A., Martinez Caicedo, D.A., Castromonte, C.M., Christy, M.E., Chvojka, J., da Motta, H., Damiani, D.S., Danko, I., Datta, M., DeMaat, R., Devan, J., Draeger, E., Dytman, S.A., Díaz, G.A., Eberly, B., Edmondson, D.A., Felix, J., Fields, L., Fiorentini, G.A., Flight, R.S., Gago, A.M., Gallagher, H., George, C.A., Gielata, J.A., Gingu, C., Gobbi, B., Gran, R., Grange, J., Grossman, N., Harris, D.A., Heaton, J., Higuera, A., Hobbs, J.A., Howley, I.J., Hurtado, K., Jerkins, M., Kafka, T., Kantner, M.O., Keppel, C., Kilmer, J., Kordosky, M., Krajeski, A.H., Kumbartzki, G.J., Lee, H., Leister, A.G., Locke, G., Maggi, G., Maher, E., Manly, S., Mann, W.A., Marshall, C.M., McFarland, K.S., McGivern, C.L., McGowan, A.M., Mislivec, A., Morfín, J.G., Mousseau, J., Naples, D., Nelson, J.K., Niculescu, G., Niculescu, I., O'Connor, C.D., Ochoa, N., Olsen, J., Osmanov, B., Osta, J., Palomino, J.L., Paolone, V., Park, J., Perdue, G.N., Peña, C., Pla-Dalmau, A., Rakotondravohitra, L., Ransome, R.D., Ray, H., Ren, L., Rubinov, P., Rude, C., Sassin, K.E., Schellman, H., Schmitz, D.W., Schneider, R.M., Schulte, E.C., Simon, C., Snider, F.D., Snyder, M.C., Solano Salinas, C.J., Tagg, N., Tice, B.G., Tilden, R.N., Tzanakos, G., Velásquez, J.P., Walton, T., Westerberg, A., Wolcott, J., Wolthuis, B.A., Woodward, N., Wytock, T., Zavala, G., Zeng, H.B., Zhang, D., Zhu, L.Y., and Ziemer, B.P.

Published
2014
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5. Sustained Improvement of Interstitial Lung Disease Following Enzyme Replacement Therapy with Olipudase Alfa in Children and Adults with Chronic Acid Sphingomyelinase Deficiency

Author

Berger, K.I., primary, Scarpa, M., additional, Diaz, G.A., additional, Giugliani, R., additional, Lachmann, R., additional, Wasserstein, M.P., additional, Bonella, F., additional, Walsh, S.L.F., additional, Wuyts, W.A., additional, Jessel, A., additional, Rawlings, A.M., additional, and Kumar, M., additional

Published
2022
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11. Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

Author

Posset, R. (Roland), Garbade, S.F. (Sven), Gleich, F. (Florian), Gropman, A.L. (Andrea L.), Lonlay, P. (Pascale) de, Hoffmann, G.F. (Georg), Garcia-Cazorla, A. (Angeles), Nagamani, S.C.S. (Sandesh C. S.), Baumgartner, M.R. (Matthias), Schulze, A. (Andreas), Dobbelaere, D. (Dries), Yudkoff, M. (Marc), Kölker, S. (Stefan), Zielonka, M. (Matthias), Ah Mew, N. (Nicholas), Berry, S.A. (Susan A.), McCandless, S.E. (Shawn E.), Coughlin, C. (Curtis), Enns, G. (Gregory), Gallagher, R.C. (Renata C.), Burrage, L.C. (Lindsay C.), Seminara, J. (Jennifer), Harding, C.O. (Cary O.), Burgard, P. (Peter), Le Mons, C. (Cynthia), Merritt, J.L. (J. Lawrence), Stricker, T. (Tamar), Bedoyan, J. (Jirair), Berry, G.T. (Gerard T.), Diaz, G.A. (George A.), Wong, D. (Derek), Tuchman, M. (Mendel), Waisbren, S. (Susan), Weisfeld-Adams, J.D. (James D), Burlina, A.B. (Alberto), Leão Teles, E. (Elisa), Pedrón-Giner, C. (Consuelo), Lund, A.M. (Allan M.), Dionisi-Vici, C. (Carlo), Williams, M. (Monique), Mütze, U. (Ulrike), Karall, D. (Daniela), Blasco-Alonso, J. (Javier), Couce, M.L. (Maria L.), Sykut-Cegielska, J. (Jolanta), Augoustides-Savvopoulou, P. (Persa), Ruiz Gomez, A. (Angeles), Barić, I. (Ivo), Schiff, M. (Manuel), Chien, Y.-H. (Yin-Hsiu), Lindner, M. (Martin), Chabrol, B. (Brigitte), Skouma, A. (Anastasia), Zeman, J. (Jiri), Sokal, E. (Etienne), Santer, R. (Rene), Eyskens, F. (François), Freisinger, P. (Peter), Peña-Quintana, L. (Luis), Roland, D. (Dominique), Cortès-Saladelafont, E. (Elisenda), Djordjevic, M. (Maja), Posset, R. (Roland), Garbade, S.F. (Sven), Gleich, F. (Florian), Gropman, A.L. (Andrea L.), Lonlay, P. (Pascale) de, Hoffmann, G.F. (Georg), Garcia-Cazorla, A. (Angeles), Nagamani, S.C.S. (Sandesh C. S.), Baumgartner, M.R. (Matthias), Schulze, A. (Andreas), Dobbelaere, D. (Dries), Yudkoff, M. (Marc), Kölker, S. (Stefan), Zielonka, M. (Matthias), Ah Mew, N. (Nicholas), Berry, S.A. (Susan A.), McCandless, S.E. (Shawn E.), Coughlin, C. (Curtis), Enns, G. (Gregory), Gallagher, R.C. (Renata C.), Burrage, L.C. (Lindsay C.), Seminara, J. (Jennifer), Harding, C.O. (Cary O.), Burgard, P. (Peter), Le Mons, C. (Cynthia), Merritt, J.L. (J. Lawrence), Stricker, T. (Tamar), Bedoyan, J. (Jirair), Berry, G.T. (Gerard T.), Diaz, G.A. (George A.), Wong, D. (Derek), Tuchman, M. (Mendel), Waisbren, S. (Susan), Weisfeld-Adams, J.D. (James D), Burlina, A.B. (Alberto), Leão Teles, E. (Elisa), Pedrón-Giner, C. (Consuelo), Lund, A.M. (Allan M.), Dionisi-Vici, C. (Carlo), Williams, M. (Monique), Mütze, U. (Ulrike), Karall, D. (Daniela), Blasco-Alonso, J. (Javier), Couce, M.L. (Maria L.), Sykut-Cegielska, J. (Jolanta), Augoustides-Savvopoulou, P. (Persa), Ruiz Gomez, A. (Angeles), Barić, I. (Ivo), Schiff, M. (Manuel), Chien, Y.-H. (Yin-Hsiu), Lindner, M. (Martin), Chabrol, B. (Brigitte), Skouma, A. (Anastasia), Zeman, J. (Jiri), Sokal, E. (Etienne), Santer, R. (Rene), Eyskens, F. (François), Freisinger, P. (Peter), Peña-Quintana, L. (Luis), Roland, D. (Dominique), Cortès-Saladelafont, E. (Elisenda), and Djordjevic, M. (Maja)

Abstract

Low protein diet and sodium or glycerol phenylbutyrate, two pillars of recommended long-term therapy of individuals with urea cycle disorders (UCDs), involve the risk of iatrogenic growth failure. Limited evidence-based studies hamper our knowledge on the long-term effects of the proposed medical management in individuals with UCDs. We studied the impact of medical management on growth and weight development in 307 individuals longitudinally followed by the Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD). Intrauterine growth of all investigated UCDs and postnatal linear growth of asymptomatic individuals remained unaffected. Symptomatic individuals were at risk of progressive growth retardation independent from the underlying disease and the degree of natural protein restriction. Growth impairment was determined by disease severity and associated with reduced or borderline plasma branched-chain amino acid (BCAA) concentrations. Liver transplantation appeared to have a beneficial effect on growth. Weight development remained unaffected both in asymptomatic and symptomatic individuals. Progressive growth impairment depends on disease severity and plasma BCAA concentrations, but cannot be predicted by the amount of natural protein intake alone. Future clinical trials are necessary to evaluate whether supplementation with BCAAs might improve growth in UCDs.

Published
2020
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13. Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants

Author

Shi, L., Webb, B.D., Birch, A.H., Elkhoury, L., McCarthy, J., Cai, X., Oishi, K., Mehta, L., Diaz, G.A., Edelmann, L., and Kornreich, R.

Subjects
Male, Heterozygote, Genotype, Genetic Carrier Screening, Genetic Diseases, Inborn, Genes, Recessive, Article, Founder Effect, Genetics, Population, Jews, Mutation, Humans, Female, Genetic Predisposition to Disease, Genetic Testing
Abstract

The Ashkenazi Jewish (AJ) population has an increased risk for a variety of recessive diseases due to historical founder effects and genetic drift. For some, the disease-causing founder mutations have been identified and well-characterized, but for others, further study is necessary. The purpose of this study is to assess the carrier frequencies of 85 pathogenic variants causative of 29 recessive conditions in the AJ population. Up to 3000 AJ individuals were genotyped by Luminex MagPlex®-TAG™ bead array or Agena Bioscience™ MassARRAY assays. We identified seven conditions with carrier frequencies higher than 1 in 100, nine between 1 in 100 and 1 in 200, and four between 1 in 200 and 1 in 500. Variants in nine conditions had a detected carrier rate of less than 1 in 500 or were not identified in approximately 2000 AJ individuals. We assessed the combined AJ carrier frequency for 18 relatively prevalent diseases to be 1 in 6, and the risk of AJ individuals to be a carrier couple for one of these 18 diseases as 1 in 441. We note additional recessive genetic conditions should be considered for AJ carrier screening panels.

Published
2016

14. Single neutral pion production by charged-current [formula omitted] interactions on hydrocarbon at [formula omitted]

Author

Le, T., Palomino, J.L., Aliaga, L., Altinok, O., Bercellie, A., Bodek, A., Bravar, A., Brooks, W.K., Butkevich, A., Martinez Caicedo, D.A., Carneiro, M.F., Christy, M.E., Chvojka, J., da Motta, H., Devan, J., Dytman, S.A., Díaz, G.A., Eberly, B., Felix, J., Fields, L., Fine, R., Gago, A.M., Gallagher, H., Gran, R., Harris, D.A., Higuera, A., Hurtado, K., Kordosky, M., Maher, E., Manly, S., Mann, W.A., Marshall, C.M., McFarland, K.S., McGivern, C.L., McGowan, A.M., Miller, J., Morfín, J.G., Mousseau, J., Nelson, J.K., Norrick, A., Osta, J., Paolone, V., Park, J., Patrick, C.E., Perdue, G.N., Rakotondravohitra, L., Ransome, R.D., Ray, H., Ren, L., Rodrigues, P.A., Ruterbories, D., Schellman, H., Schmitz, D.W., Sobczyk, J.T., Solano Salinas, C.J., Tagg, N., Tice, B.G., Valencia, E., Walton, T., Wolcott, J., Yepes-Ramirez, H., Zavala, G., Zhang, D., and Ziemer, B.P.

Published
2015
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18. Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders

Author

Vockley, J., primary, Charrow, J., additional, Ganesh, J., additional, Eswara, M., additional, Diaz, G.A., additional, McCracken, E., additional, Conway, R., additional, Enns, G.M., additional, Starr, J., additional, Wang, R., additional, Abdenur, J.E., additional, Sanchez-de-Toledo, J., additional, and Marsden, D.L., additional

Published
2016
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20. Glutamine and hyperammonemic crises in patients with urea cycle disorders

Author

Lee, B., primary, Diaz, G.A., additional, Rhead, W., additional, Lichter-Konecki, U., additional, Feigenbaum, A., additional, Berry, S.A., additional, Le Mons, C., additional, Bartley, J., additional, Longo, N., additional, Nagamani, S.C., additional, Berquist, W., additional, Gallagher, R.C., additional, Harding, C.O., additional, McCandless, S.E., additional, Smith, W., additional, Schulze, A., additional, Marino, M., additional, Rowell, R., additional, Coakley, D.F., additional, Mokhtarani, M., additional, and Scharschmidt, B.F., additional

Published
2016
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21. Novel, Compound Heterozygous, Single-Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss

Author

Webb, B.D., Wheeler, P.G., Hagen, J.J., Cohen, N., Linderman, M.D., Diaz, G.A., Naidich, T.P., Rodenburg, R.J.T., Houten, S.M., Schadt, E.E., Webb, B.D., Wheeler, P.G., Hagen, J.J., Cohen, N., Linderman, M.D., Diaz, G.A., Naidich, T.P., Rodenburg, R.J.T., Houten, S.M., and Schadt, E.E.

Abstract

Item does not contain fulltext

Published
2015

22. Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate

Author

Mokhtarani, M., primary, Diaz, G.A., additional, Lichter-Konecki, U., additional, Berry, S.A., additional, Bartley, J., additional, McCandless, S.E., additional, Smith, W., additional, Harding, C., additional, Le Mons, C., additional, Coakley, D.F., additional, Lee, B., additional, and Scharschmidt, B.F., additional

Published
2015
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23. Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.

Author

Shi, L., Webb, B.D., Birch, A.H., Elkhoury, L., McCarthy, J., Cai, X., Oishi, K., Mehta, L., Diaz, G.A., Edelmann, L., and Kornreich, R.

Subjects
ASHKENAZIM, MEDICAL genetics, GENETIC mutation, PATHOGENIC microorganisms, CARRIER state (Communicable diseases)
Abstract

The Ashkenazi Jewish (AJ) population has an increased risk for a variety of recessive diseases due to historical founder effects and genetic drift. For some, the disease-causing founder mutations have been identified and well-characterized, but for others, further study is necessary. The purpose of this study is to assess the carrier frequencies of 85 pathogenic variants causative of 29 recessive conditions in the AJ population. Up to 3000 AJ individuals were genotyped by Luminex MagPlex®-TAG™ bead array or Agena Bioscience™ MassARRAY assays. We identified seven conditions with carrier frequencies higher than 1 in 100, nine between 1 in 100 and 1 in 200, and four between 1 in 200 and 1 in 500. Variants in nine conditions had a detected carrier rate of less than 1 in 500 or were not identified in approximately 2000 AJ individuals. We assessed the combined AJ carrier frequency for 18 relatively prevalent diseases to be 1 in 6, and the risk of AJ individuals to be a carrier couple for one of these 18 diseases as 1 in 441. We note additional recessive genetic conditions should be considered for AJ carrier screening panels. [ABSTRACT FROM AUTHOR]

Published
2017
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24. Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio

Author

Mokhtarani, M., primary, Diaz, G.A., additional, Rhead, W., additional, Berry, S.A., additional, Lichter-Konecki, U., additional, Feigenbaum, A., additional, Schulze, A., additional, Longo, N., additional, Bartley, J., additional, Berquist, W., additional, Gallagher, R., additional, Smith, W., additional, McCandless, S.E., additional, Harding, C., additional, Rockey, D.C., additional, Vierling, J.M., additional, Mantry, P., additional, Ghabril, M., additional, Brown, R.S., additional, Dickinson, K., additional, Moors, T., additional, Norris, C., additional, Coakley, D., additional, Milikien, D.A., additional, Nagamani, S.C., additional, LeMons, C., additional, Lee, B., additional, and Scharschmidt, B.F., additional

Published
2013
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26. Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders

Author

Mokhtarani, M., primary, Diaz, G.A., additional, Rhead, W., additional, Lichter-Konecki, U., additional, Bartley, J., additional, Feigenbaum, A., additional, Longo, N., additional, Berquist, W., additional, Berry, S.A., additional, Gallagher, R., additional, Bartholomew, D., additional, Harding, C.O., additional, Korson, M.S., additional, McCandless, S.E., additional, Smith, W., additional, Vockley, J., additional, Bart, S., additional, Kronn, D., additional, Zori, R., additional, Cederbaum, S., additional, Dorrani, N., additional, Merritt, J.L., additional, Sreenath-Nagamani, Sandesh, additional, Summar, M., additional, LeMons, C., additional, Dickinson, K., additional, Coakley, D.F., additional, Moors, T.L., additional, Lee, B., additional, and Scharschmidt, B.F., additional

Published
2012
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28. Ammonia control in children with urea cycle disorders (UCDs); Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate

Author

Lichter-Konecki, Uta, primary, Diaz, G.A., additional, Merritt, J.L., additional, Feigenbaum, A., additional, Jomphe, C., additional, Marier, J.F., additional, Beliveau, M., additional, Mauney, J., additional, Dickinson, K., additional, Martinez, A., additional, Mokhtarani, M., additional, Scharschmidt, B., additional, and Rhead, W., additional

Published
2011
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29. A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.

Author

Webb, B.D., Brandt, T., Liu, L., Jalas, C., Liao, J., Fedick, A., Linderman, M.D., Diaz, G.A., Kornreich, R., Trachtman, H., Mehta, L., and Edelmann, L.

Subjects
KIDNEY diseases, GENETIC mutation, ASHKENAZIM, DEAFNESS, ALLELES, HEMATURIA
Abstract

Alport syndrome is an inherited progressive nephropathy arising from mutations in the type IV collagen genes, COL4A3, COL4A4, and COL4A5. Symptoms also include sensorineural hearing loss and ocular lesions. We determined the molecular basis of Alport syndrome in a non-consanguineous Ashkenazi Jewish family with multiple affected females using linkage analysis and next generation sequencing. We identified a homozygous COL4A3 mutation, c.40_63del, in affected individuals with mutant alleles inherited from each parent on partially conserved haplotypes. Large-scale population screening of 2017 unrelated Ashkenazi Jewish samples revealed a carrier frequency of 1 in 183 indicating that COL4A3 c.40_63del is a founder mutation which may be a common cause of Alport syndrome in this population. Additionally, we determined that heterozygous mutation carriers in this family do not meet criteria for a diagnosis of Thin Basement Membrane Nephropathy and concluded that carriers of c.40_63del are not likely to develop benign familial hematuria. [ABSTRACT FROM AUTHOR]

Published
2014
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