Search Results - "Diaz, G.A."

Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease‐causing variants by Shi, L., Webb, B.D., Birch, A.H., Elkhoury, L., McCarthy, J., Cai, X., Oishi, K., Mehta, L., Diaz, G.A., Edelmann, L., Kornreich, R.

“…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,…”
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Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrate by Mokhtarani, M., Diaz, G.A., Lichter-Konecki, U., Berry, S.A., Bartley, J., McCandless, S.E., Smith, W., Harding, C., Le Mons, C., Coakley, D.F., Lee, B., Scharschmidt, B.F.

“…Urinary phenylacetylglutamine (U-PAGN) concentrations in spot urine samples were analyzed as a dosing biomarker during glycerol phenylbutyrate (GPB) dosing in…”
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Nutrition care in Colombia: Results of the participation for six years in the nutritionday by Cardenas, D., Diaz, G.A., Kling, J., Bermudez, C.

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Nutrition care in colombia: Results of the participation for six years in the nutritionday by Cardenas, D., Diaz, G.A., Kling, J., Bermudez, C.

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CO1 The Natural History, Clinical Outcomes and Unmet Needs of Patients with Arginase 1 Deficiency (ARG1-D): A Systematic Review of Case Reports by Bin Sawad, A., Pothukuchy, A., Badeaux, M., Hodson, V., Bubb, G., Lindsley, K., Uyei, J., Diaz, G.A.

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PRO37 The Epidemiology, Methods of Diagnosis, and Clinical Management of Patients with Arginase 1 Deficiency (ARG1-D): A Systematic Review by Bin Sawad, A., Jackimiec, J., Bechter, M., Trucillo, A., Lindsley, K., Bhagat, A., Uyei, J., Diaz, G.A.

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SUN-P039: Association Between Sarcopenia and Functional Status Among Older Nursing Home Residents in Bogota, Colombia by Muñoz, G.A. Diaz, Cárdenas, D, Jimenez, A. Mesa

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Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders by Vockley, J., Charrow, J., Ganesh, J., Eswara, M., Diaz, G.A., McCracken, E., Conway, R., Enns, G.M., Starr, J., Wang, R., Abdenur, J.E., Sanchez-de-Toledo, J., Marsden, D.L.

“…Long-chain fatty acid oxidation disorders (LC-FAOD) can cause cardiac hypertrophy and cardiomyopathy, often presenting in infancy, typically leading to death…”
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Photochemistry of Coronene in Cosmic Water Ice Analogs at Different Concentrations by de Barros, A. L. F., Mattioda, A. L., Ricca, A., Cruz-Diaz, G.A., Allamandola, L. J.

“…This work presents the photochemistry of ultraviolet (UV) irradiated coronene in water ices at 15 K studied using mid-infrared Fourier transform (FTIR)…”
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Ammonia control in children with urea cycle disorders (UCDs); Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate by Lichter-Konecki, Uta, Diaz, G.A., Merritt, J.L., Feigenbaum, A., Jomphe, C., Marier, J.F., Beliveau, M., Mauney, J., Dickinson, K., Martinez, A., Mokhtarani, M., Scharschmidt, B., Rhead, W.

“…Twenty four hour ammonia profiles and correlates of drug effect were examined in a phase 2 comparison of sodium phenylbutyrate (NaPBA) and glycerol…”
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Glutamine and hyperammonemic crises in patients with urea cycle disorders by Lee, B., Diaz, G.A., Rhead, W., Lichter-Konecki, U., Feigenbaum, A., Berry, S.A., Le Mons, C., Bartley, J., Longo, N., Nagamani, S.C., Berquist, W., Gallagher, R.C., Harding, C.O., McCandless, S.E., Smith, W., Schulze, A., Marino, M., Rowell, R., Coakley, D.F., Mokhtarani, M., Scharschmidt, B.F.

“…Blood ammonia and glutamine levels are used as biomarkers of control in patients with urea cycle disorders (UCDs). This study was undertaken to evaluate…”
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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 by Mokhtarani, M., Diaz, G.A., Rhead, W., Berry, S.A., Lichter-Konecki, U., Feigenbaum, A., Schulze, A., Longo, N., Bartley, J., Berquist, W., Gallagher, R., Smith, W., McCandless, S.E., Harding, C., Rockey, D.C., Vierling, J.M., Mantry, P., Ghabril, M., Brown, R.S., Dickinson, K., Moors, T., Norris, C., Coakley, D., Milikien, D.A., Nagamani, S.C., LeMons, C., Lee, B., Scharschmidt, B.F.

“…Phenylacetic acid (PAA) is the active moiety in sodium phenylbutyrate (NaPBA) and glycerol phenylbutyrate (GPB, HPN-100). Both are approved for treatment of…”
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A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population by 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., Edelmann, L.

“…Alport syndrome is an inherited progressive nephropathy arising from mutations in the type IV collagen genes, COL4A3, COL4A4, and COL4A5. Symptoms also include…”
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Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders by Mokhtarani, M., Diaz, G.A., Rhead, W., Lichter-Konecki, U., Bartley, J., Feigenbaum, A., Longo, N., Berquist, W., Berry, S.A., Gallagher, R., Bartholomew, D., Harding, C.O., Korson, M.S., McCandless, S.E., Smith, W., Vockley, J., Bart, S., Kronn, D., Zori, R., Cederbaum, S., Dorrani, N., Merritt, J.L., Sreenath-Nagamani, Sandesh, Summar, M., LeMons, C., Dickinson, K., Coakley, D.F., Moors, T.L., Lee, B., Scharschmidt, B.F.

“…We have analyzed pharmacokinetic data for glycerol phenylbutyrate (also GT4P or HPN-100) and sodium phenylbutyrate with respect to possible dosing biomarkers…”
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PP126 Topic: AS14–Infections: Sepsis and Septic Shock/Antimicrobial Stewardship/Tropical and Parasite Infections/Other: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS ASSOCIATED WITH DENGUE AT AN INSTITUTION IN TABASCO, MÉXICO by Alejo Narváez, Jorge Isaac, Luna Galeana, J.L., Palma Pérez, R., Muro Coronado, E.D.R., Hernández, Gómez, Neme Díaz, G.A., Aguilar Arguello, C.H., Ramirez De Los Santos, J.D.J.

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Identification and characterization of isolates of Botrytis obtained from blossom blight and fruits with calyx-end rot in apples in Chile by Ferrada, E.E., Biche, J., Lolas, M., Lobos, G., Díaz, G.A.

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Bull’s eye rot development in storage is related to the timing of apple fruit infection by Neofabraea vagabunda in the orchard in Chile by Lolas, M., Cáceres, M., Reyes, J.A., Díaz, G.A.

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Simultaneous Measurement of Muon Neutrino ν μ Charged-Current Single π + Production in CH, C, H 2 O , Fe, and Pb Targets in MINERvA by Bercellie, A., Kroma-Wiley, K. A., Akhter, S., Ahmad Dar, Z., Akbar, F., Ansari, V., Ascencio, M. V., Athar, M. Sajjad, Bellantoni, L., Betancourt, M., Bodek, A., Bonilla, J. L., Bravar, A., Budd, H., Caceres, G., Cai, T., Díaz, G. A., da Motta, H., Dytman, S. A., Felix, J., Fields, L., Filkins, A., Fine, R., Gago, A. M., Gallagher, H., Gaur, P. K., Ghosh, A., Gilligan, S. M., Gran, R., Granados, E., Harris, D. A., Jena, D., Jena, S., Kleykamp, J., Klustová, A., Kordosky, M., Last, D., Le, T., Lozano, A., Lu, X.-G., Mahbub, I., Maher, E., Manly, S., Mann, W. A., Mauger, C., McFarland, K. S., Messerly, B., Miller, J., Moreno, O., Morfín, J. G., Naples, D., Nelson, J. K., Nguyen, C., Olivier, A., Paolone, V., Perdue, G. N., Plows, K.-J., Ramírez, M. A., Ransome, R. D., Ray, H., Ruterbories, D., Schellman, H., Solano Salinas, C. J., Su, H., Sultana, M., Syrotenko, V. S., Utt, B., Valencia, E., Vaughan, N. H., Waldron, A. V., Yaeggy, B., Zazueta, L.

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From understanding cellular function to novel drug discovery: the role of planar patch-clamp array chip technology by Py, Christophe, Martina, Marzia, Diaz-Quijada, Gerardo A, Luk, Collin C, Martinez, Dolores, Denhoff, Mike W, Charrier, Anne, Comas, Tanya, Monette, Robert, Krantis, Anthony, Syed, Naweed I, Mealing, Geoffrey A R

“…All excitable cell functions rely upon ion channels that are embedded in their plasma membrane. Perturbations of ion channel structure or function result in…”
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Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: Evidence for an ancestral founder mutation and locus refinement by Diaz, G.A., Gelb, B.D., Ali, F., Sakati, N., Sanjad, S., Meyer, B.F., Kambouris, M.

“…The Sanjad‐Sakati syndrome (SSS; MIM241410), an autosomal recessive trait characterized by congenital hypoparathyroidism, growth and mental retardation,…”
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