Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Yazmin Enchautegui-Colon"'
Autor:
Hsin-Ti Lin, Yazmin Enchautegui-Colon, Yu-Ren Huang, Chelsea Zimmerman, Danielle DeMarzo, Anne Chun-Hui Tsai
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100942- (2022)
Carbamoyl phosphate synthetase 1 (CPS1) deficiency is an autosomal recessive urea cycle disorder with varying presentations. Patients with a neonatal-onset phenotype are initially healthy but develop severe hyperammonemia days after birth and often h
Externí odkaz:
https://doaj.org/article/27486de32557496ba30b190a713d7219
Autor:
Anne Chun-Hui Tsai, Hsin-Ti Lin, Maxwell Chou, Jessica Bolen, Chelsea Zimmerman, Danielle DeMarzo, Yazmin Enchautegui-Colon
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100859- (2022)
With the execution of expanded newborn screen (NBS) program nationwide, it is uncommon to see severe hyperammonemia associated with isovaleric acidemia (IVA). We present a seven-day-old boy with severe IVA complicated by hyperammonemia. This child wa
Externí odkaz:
https://doaj.org/article/f44337c0b363486d8daf0748fc12e319
Autor:
Anne Chun-Hui, Tsai, Hsin-Ti, Lin, Maxwell, Chou, Jessica, Bolen, Chelsea, Zimmerman, Danielle, DeMarzo, Yazmin, Enchautegui-Colon
Publikováno v:
Molecular genetics and metabolism reports. 31
With the execution of expanded newborn screen (NBS) program nationwide, it is uncommon to see severe hyperammonemia associated with isovaleric acidemia (IVA). We present a seven-day-old boy with severe IVA complicated by hyperammonemia. This child wa
Autor:
Danielle DeMarzo-Burdsall, Yazmin Enchautegui Colon, Ashley Ethriedge, Michelle Peters, Chelsie Hollas, Anne Tsai
Publikováno v:
Genetics in Medicine. 24:S6
Autor:
James D. Weisfeld-Adams, Sandra Heck, Margaret Harr, Jennifer E. Posey, James R. Lupski, Yazmin Enchautegui Colon, Bertrand Isidor, Pengfei Liu, Maciej Bagłaj, Austin Larson, Katherine B. Bosanko, Bert Callewaert, Nurit Assia Batzir, Maria Linda Rocha, Ashley Cannon, Michael F. Wangler, Leon Bofferding, Kimberly Nugent, Katerina Wells, Michael B. Petersen, Robert Smigiel, Skander Bouassida, Elizabeth Roeder, Arthur L. Beaudet, Helen Mar Fan, Pilar L. Magoulas, Ian Tully, Ronit Marom, Marjan M. Nezarati, Scott D. McLean, Shalini N. Jhangiani, Pranjali K Bhagwat, Anna C.E. Hurst, Adolfo D. Garnica, Zeynep Coban Akdemir, Rebecca O. Littlejohn
Publikováno v:
Assia Batzir, N, Kishor Bhagwat, P, Larson, A, Coban Akdemir, Z, Bagłaj, M, Bofferding, L, Bosanko, K B, Bouassida, S, Callewaert, B, Cannon, A, Enchautegui Colon, Y, Garnica, A D, Harr, M H, Heck, S, Hurst, A C, Jhangiani, S N, Isidor, B, Littlejohn, R O, Liu, P, Magoulas, P, Mar Fan, H, Marom, R, McLean, S, Nezarati, M M, Nugent, K M, Petersen, M B, Linda Rocha, M, Roeder, E, Smigiel, R, Tully, I, Weisfeld-Adams, J, Wells, K O, Genomics, B-H C F M, Posey, J E, Lupski, J R, Beaudet, A L & Wangler, M F 2020, ' Recurrent Arginine Substitutions in the ACTG2 Gene are the Primary Driver of Disease Burden and Severity in Visceral Myopathy ', Human Mutation, vol. 41, no. 3, pp. 641-654 . https://doi.org/10.1002/humu.23960
Hum Mutat
Hum Mutat
Visceral myopathy with abnormal intestinal and bladder peristalsis includes a clinical spectrum with megacystis-microcolon intestinal hypoperistalsis syndrome and chronic intestinal pseudo-obstruction. The vast majority of cases are caused by dominan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3695b9b9e2c87a8c137957bd49c427ef
https://vbn.aau.dk/da/publications/ac70c72e-6ac9-406c-be37-06e0406e78f8
https://vbn.aau.dk/da/publications/ac70c72e-6ac9-406c-be37-06e0406e78f8
Autor:
Deborrah Hennerich, Karen Swisshelm, Yazmin Enchautegui-Colon, James D. Weisfeld-Adams, Brenda Lunt, Billie Carstens, Jamie LeRoux
Publikováno v:
Cancer Genetics. 208:364
Down syndrome (DS) is the most common genetic cause of intellectual disability and is most commonly caused by complete trisomy of chromosome 21. Correlations between specific critical regions of chromosome 21 and key DS clinical features are incomple