Claude Sansaricq, MD, PhD
- HONORARY LECTURER | Genetics and Genomic Sciences
73-43 179th Street Fresh Meadows, NY 11366
MD, University of Haiti
University of The State of New York Education Department
MS, Columbia University
PhD, Columbia University
Our group's major interests were in the field of Inborn Errors of Metabolism mainly involving but not restricted to the following conditions: PKU and Maternal PKU, Tetrahydrobiopterin deficiency, MSUD, Homocystinemia, Tyrosinemia, The Urea Cycle Enzymes deficiencies, The Organic acidemias as MMA, PA, Isovaleric acidemia, Glutaric acidemia type I and II and including primary Lactic acidosis, Primary Hypoglycemia, Galactosemia, HFI, GSD; Carnitine deficiency, The Fatty acid Oxidation defects, The Mitochondrial disorders, The Lysosomal disorders and others. The research impetus was on the evaluation and development of new diagnosis approaches and novel therapies for these conditions. Some representative themes can be found in the following articles. Emphasis was also placed on teaching.
Wasserstein PM, Buchsbaum MS, Sansaricq C, Snyderman SE. Cerebral glucose metabolism in adult with early-treated phenylketonuria. Molecular Genetics and Metabolism 2005;.
Edelmann L, Wasserstein MP, Diaz GA, Sansaricq C, Snyderman SE, Kornreich R. Maple syrup urine disease: Identification of a novel founder mutation in the Ashkenazi jewish population. AJHG 2001; 69: 863-868.
Topaloglu AK, Snyderman SE, Sansaricq C. Influence of metabolic control on growth in homocystinuria due to cystathionine . Pediatr. Res 2001; 49: 796-798.
Wasserstein M, Snyderman SE, Sansaricq C, Eddleman K, Desnick RJ, Gattipatti S. Successful pregnancy in severe Methylmalonic acidemia. J. Inher. Metab. Dis. 1999; 22: 788-794.
Topaloglu KA, Sansaricq C, Desnick RJ, Bale AE, Tuchman M, Fox JE. Prenatal molecular diagnosis of severe ornithine transcarbamylase deficiency due to a novel mutation, E181G. J.Inher. Metab. Dis 1998; 21.
Snyderman SE, Middleton B, Sansaricq C. Succinyl-CoA: 3-ketoacid-CoA Transferase deficiency. Pediatr 1998; 101: 709-711.
Uchino T, Snyderman SE, Lambert M, Qureshi IA, Matsuda I, Sansaricq C, Smit LM, Jakobs C, Shapira SK. Molecular basis of phenotypic variation in patients with argininemia. Hum. Genet 1995; 96: 255-260.
Korein J, Sansaricq C, Lange B, Honig J, Kalmijn M. Maple syrup urine disease: Clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity. Intern J. of Neuroscience 1994; 79: 21-45.
Standley CA, Treem WR, Coates PM, Vianey-Liaud C, Divry P, Bonnefont JP, Saudubray JM, Haymond M, Trefz FK, Breningstall G, Wappner RS, Byrd D, Sansaricq C, Tein I, Grover W, Valle D, Deleeuw S. Plasma membrane carnitine transport defect: A recessive disorder of fatty acid oxidation presenting with either cardiomyopathy or hypoglycemia. Ann. Neurol 1991; 30: 709-716.
Snyderman SE, Norton PM, Sansaricq C, Goldstein F. The relationship between the Branched Chain Amino Acids and their L-Ketoacids in Maple Syrup Urine Disease. Ped. Res 1984; 9: 851-853.