The Experts below are selected from a list of 183 Experts worldwide ranked by ideXlab platform
Sharon Nichols - One of the best experts on this subject based on the ideXlab platform.
-
erratum to Pyruvate Carboxylase Deficiency insights from liver transplantation mol genet metab 77 2002 143 149
Molecular Genetics and Metabolism, 2006Co-Authors: William L. Nyhan, Ajai Khanna, Bruce Barshop, Robert K. Naviaux, Andrew F. Precht, Bryan E. Hainline, Rebecca S. Wappner, Joel E. Levine, Marquis A Hart, Sharon NicholsAbstract:a Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA b Department of Surgery, University of California, San Diego, La Jolla, CA, USA c Department of Medicine, University of California, San Diego, La Jolla, CA, USA d Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA e Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA
-
Erratum to “Pyruvate Carboxylase Deficiency—Insights from liver transplantation” [Mol. Genet. Metab. 77 (2002) 143–149]
Molecular Genetics and Metabolism, 2006Co-Authors: William L. Nyhan, Ajai Khanna, Bruce Barshop, Robert K. Naviaux, Andrew F. Precht, Bryan E. Hainline, A. Hart, Rebecca S. Wappner, Joel E. Levine, Sharon NicholsAbstract:a Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA b Department of Surgery, University of California, San Diego, La Jolla, CA, USA c Department of Medicine, University of California, San Diego, La Jolla, CA, USA d Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA e Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA
-
Pyruvate Carboxylase Deficiency--insights from liver transplantation.
Molecular Genetics and Metabolism, 2002Co-Authors: William L. Nyhan, Ajai Khanna, Bruce Barshop, Robert K. Naviaux, Andrew F. Precht, Bryan E. Hainline, A. Hart, Joel E Lavine, Rebecca S. Wappner, Sharon NicholsAbstract:Pyruvate Carboxylase Deficiency, complex form, presents in early infancy with lethal metabolic acidosis, resulting from ketoacidosis and lactic acidemia. Renal tubular acidosis, hyperammonemia, and citrullinemia complete the picture. In an infant with this disease, large amounts of glucose ameliorated the ketoacidosis, but worsened the lactic acidosis. Orthotopic hepatic transplantation completely reversed the ketoacidosis and the renal tubular abnormality and ameliorated the lactic acidemia. Concentrations of glutamine in cerebrospinal fluid were low and did not improve with liver transplantation.
William L. Nyhan - One of the best experts on this subject based on the ideXlab platform.
-
erratum to Pyruvate Carboxylase Deficiency insights from liver transplantation mol genet metab 77 2002 143 149
Molecular Genetics and Metabolism, 2006Co-Authors: William L. Nyhan, Ajai Khanna, Bruce Barshop, Robert K. Naviaux, Andrew F. Precht, Bryan E. Hainline, Rebecca S. Wappner, Joel E. Levine, Marquis A Hart, Sharon NicholsAbstract:a Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA b Department of Surgery, University of California, San Diego, La Jolla, CA, USA c Department of Medicine, University of California, San Diego, La Jolla, CA, USA d Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA e Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA
-
Erratum to “Pyruvate Carboxylase Deficiency—Insights from liver transplantation” [Mol. Genet. Metab. 77 (2002) 143–149]
Molecular Genetics and Metabolism, 2006Co-Authors: William L. Nyhan, Ajai Khanna, Bruce Barshop, Robert K. Naviaux, Andrew F. Precht, Bryan E. Hainline, A. Hart, Rebecca S. Wappner, Joel E. Levine, Sharon NicholsAbstract:a Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA b Department of Surgery, University of California, San Diego, La Jolla, CA, USA c Department of Medicine, University of California, San Diego, La Jolla, CA, USA d Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA e Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA
-
Pyruvate Carboxylase Deficiency--insights from liver transplantation.
Molecular Genetics and Metabolism, 2002Co-Authors: William L. Nyhan, Ajai Khanna, Bruce Barshop, Robert K. Naviaux, Andrew F. Precht, Bryan E. Hainline, A. Hart, Joel E Lavine, Rebecca S. Wappner, Sharon NicholsAbstract:Pyruvate Carboxylase Deficiency, complex form, presents in early infancy with lethal metabolic acidosis, resulting from ketoacidosis and lactic acidemia. Renal tubular acidosis, hyperammonemia, and citrullinemia complete the picture. In an infant with this disease, large amounts of glucose ameliorated the ketoacidosis, but worsened the lactic acidosis. Orthotopic hepatic transplantation completely reversed the ketoacidosis and the renal tubular abnormality and ameliorated the lactic acidemia. Concentrations of glutamine in cerebrospinal fluid were low and did not improve with liver transplantation.
Rebecca S. Wappner - One of the best experts on this subject based on the ideXlab platform.
-
erratum to Pyruvate Carboxylase Deficiency insights from liver transplantation mol genet metab 77 2002 143 149
Molecular Genetics and Metabolism, 2006Co-Authors: William L. Nyhan, Ajai Khanna, Bruce Barshop, Robert K. Naviaux, Andrew F. Precht, Bryan E. Hainline, Rebecca S. Wappner, Joel E. Levine, Marquis A Hart, Sharon NicholsAbstract:a Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA b Department of Surgery, University of California, San Diego, La Jolla, CA, USA c Department of Medicine, University of California, San Diego, La Jolla, CA, USA d Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA e Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA
-
Erratum to “Pyruvate Carboxylase Deficiency—Insights from liver transplantation” [Mol. Genet. Metab. 77 (2002) 143–149]
Molecular Genetics and Metabolism, 2006Co-Authors: William L. Nyhan, Ajai Khanna, Bruce Barshop, Robert K. Naviaux, Andrew F. Precht, Bryan E. Hainline, A. Hart, Rebecca S. Wappner, Joel E. Levine, Sharon NicholsAbstract:a Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA b Department of Surgery, University of California, San Diego, La Jolla, CA, USA c Department of Medicine, University of California, San Diego, La Jolla, CA, USA d Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA e Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA
-
Pyruvate Carboxylase Deficiency--insights from liver transplantation.
Molecular Genetics and Metabolism, 2002Co-Authors: William L. Nyhan, Ajai Khanna, Bruce Barshop, Robert K. Naviaux, Andrew F. Precht, Bryan E. Hainline, A. Hart, Joel E Lavine, Rebecca S. Wappner, Sharon NicholsAbstract:Pyruvate Carboxylase Deficiency, complex form, presents in early infancy with lethal metabolic acidosis, resulting from ketoacidosis and lactic acidemia. Renal tubular acidosis, hyperammonemia, and citrullinemia complete the picture. In an infant with this disease, large amounts of glucose ameliorated the ketoacidosis, but worsened the lactic acidosis. Orthotopic hepatic transplantation completely reversed the ketoacidosis and the renal tubular abnormality and ameliorated the lactic acidemia. Concentrations of glutamine in cerebrospinal fluid were low and did not improve with liver transplantation.
-
Molecular Characterization of Pyruvate Carboxylase Deficiency in Two Consanguineous Families
Pediatric Research, 1998Co-Authors: Isaiah D Wexler, Rebecca S. Wappner, Douglas S. Kerr, Yuefen Du, Marie M Kaung, William Stephenson, Marilyn M Lusk, Joseph J. HigginsAbstract:Pyruvate Carboxylase (PC) is a biotinylated mitochondrial enzyme that catalyzes the conversion of Pyruvate to oxaloacetate. Children with inborn errors of PC metabolism have lactic acidosis, hypoglycemia, and mental retardation. The variable severity of the clinical phenotype is dependent on both genetic and environmental factors. Two consanguineous families with moderate forms of PC Deficiency were characterized at the biochemical and molecular levels. In both families, the probands were found to have low PC activity (range, 2-25% of control) in blood lymphocytes and skin fibroblasts associated with either diminished or normal protein levels. In the first case, sequencing of patient-specific PC cDNA demonstrated a T to C substitution at nucleotide 434, which causes a valine to alanine change at amino acid residue 145. Direct sequencing of the parents showed that they are heterozygous for this mutation. In the second family, a brother and sister had mental retardation and episodes of severe lactic/ketoacidosis in early childhood. In these cases, a C to T substitution at nucleotide 1351 results in a cysteine for arginine substitution at amino acid residue 451; the parents were also found to be heterozygous for this mutation. In both families, no other mutations were found, and both substitutions occurred in relatively conserved amino acid residues. These mutations, located in the biotin Carboxylase domain, provide a unique opportunity to analyze how natural occurring mutations affect PC function.
Ajai Khanna - One of the best experts on this subject based on the ideXlab platform.
-
erratum to Pyruvate Carboxylase Deficiency insights from liver transplantation mol genet metab 77 2002 143 149
Molecular Genetics and Metabolism, 2006Co-Authors: William L. Nyhan, Ajai Khanna, Bruce Barshop, Robert K. Naviaux, Andrew F. Precht, Bryan E. Hainline, Rebecca S. Wappner, Joel E. Levine, Marquis A Hart, Sharon NicholsAbstract:a Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA b Department of Surgery, University of California, San Diego, La Jolla, CA, USA c Department of Medicine, University of California, San Diego, La Jolla, CA, USA d Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA e Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA
-
Erratum to “Pyruvate Carboxylase Deficiency—Insights from liver transplantation” [Mol. Genet. Metab. 77 (2002) 143–149]
Molecular Genetics and Metabolism, 2006Co-Authors: William L. Nyhan, Ajai Khanna, Bruce Barshop, Robert K. Naviaux, Andrew F. Precht, Bryan E. Hainline, A. Hart, Rebecca S. Wappner, Joel E. Levine, Sharon NicholsAbstract:a Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA b Department of Surgery, University of California, San Diego, La Jolla, CA, USA c Department of Medicine, University of California, San Diego, La Jolla, CA, USA d Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA e Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA
-
Pyruvate Carboxylase Deficiency--insights from liver transplantation.
Molecular Genetics and Metabolism, 2002Co-Authors: William L. Nyhan, Ajai Khanna, Bruce Barshop, Robert K. Naviaux, Andrew F. Precht, Bryan E. Hainline, A. Hart, Joel E Lavine, Rebecca S. Wappner, Sharon NicholsAbstract:Pyruvate Carboxylase Deficiency, complex form, presents in early infancy with lethal metabolic acidosis, resulting from ketoacidosis and lactic acidemia. Renal tubular acidosis, hyperammonemia, and citrullinemia complete the picture. In an infant with this disease, large amounts of glucose ameliorated the ketoacidosis, but worsened the lactic acidosis. Orthotopic hepatic transplantation completely reversed the ketoacidosis and the renal tubular abnormality and ameliorated the lactic acidemia. Concentrations of glutamine in cerebrospinal fluid were low and did not improve with liver transplantation.
Bruce Barshop - One of the best experts on this subject based on the ideXlab platform.
-
erratum to Pyruvate Carboxylase Deficiency insights from liver transplantation mol genet metab 77 2002 143 149
Molecular Genetics and Metabolism, 2006Co-Authors: William L. Nyhan, Ajai Khanna, Bruce Barshop, Robert K. Naviaux, Andrew F. Precht, Bryan E. Hainline, Rebecca S. Wappner, Joel E. Levine, Marquis A Hart, Sharon NicholsAbstract:a Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA b Department of Surgery, University of California, San Diego, La Jolla, CA, USA c Department of Medicine, University of California, San Diego, La Jolla, CA, USA d Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA e Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA
-
Erratum to “Pyruvate Carboxylase Deficiency—Insights from liver transplantation” [Mol. Genet. Metab. 77 (2002) 143–149]
Molecular Genetics and Metabolism, 2006Co-Authors: William L. Nyhan, Ajai Khanna, Bruce Barshop, Robert K. Naviaux, Andrew F. Precht, Bryan E. Hainline, A. Hart, Rebecca S. Wappner, Joel E. Levine, Sharon NicholsAbstract:a Department of Pediatrics, University of California, San Diego, La Jolla, CA, USA b Department of Surgery, University of California, San Diego, La Jolla, CA, USA c Department of Medicine, University of California, San Diego, La Jolla, CA, USA d Department of Neurosciences, University of California, San Diego, La Jolla, CA, USA e Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA
-
Pyruvate Carboxylase Deficiency--insights from liver transplantation.
Molecular Genetics and Metabolism, 2002Co-Authors: William L. Nyhan, Ajai Khanna, Bruce Barshop, Robert K. Naviaux, Andrew F. Precht, Bryan E. Hainline, A. Hart, Joel E Lavine, Rebecca S. Wappner, Sharon NicholsAbstract:Pyruvate Carboxylase Deficiency, complex form, presents in early infancy with lethal metabolic acidosis, resulting from ketoacidosis and lactic acidemia. Renal tubular acidosis, hyperammonemia, and citrullinemia complete the picture. In an infant with this disease, large amounts of glucose ameliorated the ketoacidosis, but worsened the lactic acidosis. Orthotopic hepatic transplantation completely reversed the ketoacidosis and the renal tubular abnormality and ameliorated the lactic acidemia. Concentrations of glutamine in cerebrospinal fluid were low and did not improve with liver transplantation.
