Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Soledad, Kleppe"'
Autor:
Shuk Ching, Chong, Ye, Cao, Eva L W, Fung, Soledad, Kleppe, Karen W, Gripp, Jozef, Hertecant, Ayman W, El-Hattab, Jehan, Suleiman, Gary, Clark, Gretchen, von Allmen, Olga, Rodziyevska, Richard A, Lewis, Jill A, Rosenfeld, Jie, Dong, Xia, Wang, Marcus J, Miller, Weimin, Bi, Pengfei, Liu, Fernando, Scaglia
Publikováno v:
American Journal of Medical Genetics Part A. 191:776-785
WWOX biallelic loss-of-function pathogenic single nucleotide variants (SNVs) and copy number variants (CNVs) including exonic deletions and duplications cause WWOX-related epileptic encephalopathy (WOREE) syndrome. This disorder is characterized by r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ccd7e7fe9b159cc8bba955b0cba515b
https://doi.org/10.1002/ajmg.a.63074
https://doi.org/10.1002/ajmg.a.63074
Autor:
Hernán, Eiroa, Consuelo, Durand, Marina, Szlago, Marcela, Pereyra, Mariana, Nuñez, Norberto, Guelbert, Gabriela, Pacheco, Soledad, Kleppe
Publikováno v:
Archivos argentinos de pediatria.
Hyperammonemia is a medical emergency. There are no publications regarding the availability of resources, supplies, and knowledge necessary for the initial management of hyperammonemia by pediatricians in Argentina; however, according to the authors'
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::706621a491ebe482318e5bf5cd90d9b1
https://pubmed.ncbi.nlm.nih.gov/36287611
https://pubmed.ncbi.nlm.nih.gov/36287611
Autor:
V. Reid Sutton, Fan Xia, Jonathan A. Bernstein, Jill A. Rosenfeld, Donna M. Muzny, Christian P. Schaaf, Francesco Vetrini, Pedro Mancias, Luis F. Escobar, Chad A. Shaw, Marvin R. Natowicz, Deanna J. Erwin, Richard A. Gibbs, Linyan Meng, Alicia Braxton, Karen W. Gripp, Seema R. Lalani, James R. Lupski, Patricia A. Ward, Jennifer E. Posey, Haley Streff, Charul Gijavanekar, Yasemen Eroglu, Andrea M. Lewis, Jie Dong, Arthur L. Beaudet, Hilary J. Vernon, Christine M. Eng, Hongzheng Dai, Pilar L. Magoulas, Weimin Bi, La Keesha Minor, Fernando Scaglia, Andrew R. Ghazi, Yaping Yang, Elizabeth A. Normand, Nan Wu, Theodore Chiang, Xiaofei Song, Mary Kay Koenig, Soledad Kleppe, Weimin He, Hanyin Cheng, Crescenda L. Uhles, Paul J. Benke, Rui Xiao, Elaine H. Zackai, James B. Gibson, Tanya N. Eble, Bo Yuan, Pengfei Liu, Xia Wang
Publikováno v:
N Engl J Med
Reanalysis of Clinical Exome Data and Diagnostic Yield As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information. Thi...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::586883b712c52e3cdc325fee41782666
https://doi.org/10.1056/nejmc1812033
https://doi.org/10.1056/nejmc1812033
Errores congénitos del metabolismo y neuropsiquiatría: revisión bibliográfica a propósito de un caso
Autor:
Tomás Abudarham, Soledad Kleppe, María Paz Badia, Daniel Matusevich, Sebastián Malleza, José Faccioli
Publikováno v:
Psiquiatría Biológica. 28:100336
Resumen Objetivo El siguiente trabajo se propone revisar la bibliografia disponible que vincula a los errores congenitos del metabolismo (ECM) con la neuropsiquiatria, destacando los puntos orientadores para su sospecha, la aproximacion diagnostica y
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e53d5d0369e5383ebcd89a33190e59bd
https://doi.org/10.1016/j.psiq.2021.100336
https://doi.org/10.1016/j.psiq.2021.100336
Autor:
Soledad Kleppe, James T. Lu, Phillipe M. Campeau, Abbhirami Rajagopal, Ignacio Bergadá, Brendan Lee, Florencia Clément, Richard A. Gibbs, Jose Miguel Liern, Debora Braslavsky, Hamilton Cassinelli, Graciela Vallejo, David S. Liu
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 99:E2451-E2456
Two Argentinean siblings (a boy and a girl) from a nonconsanguineous family presented with hypercalcemia, hypercalciuria, hypophosphatemia, low parathyroid hormone (PTH), and nephrocalcinosis.The goal of this study was to identify genetic causes of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8546f2dca8c53ef8e6fc14e81ee2935
https://doi.org/10.1210/jc.2014-1517
https://doi.org/10.1210/jc.2014-1517
Autor:
Lee-Jun C. Wong, Victor Wei Zhang, Matthew S. Comeaux, Soledad Kleppe, Deborah L. Renaud, William J. Craigen, Eric S. Schmitt, Guoli Wang, Jing Wang, Qin Sun
Publikováno v:
Molecular Genetics and Metabolism. 109:260-268
Cerebral creatine deficiency syndromes (CCDS) are a group of inborn errors of creatine metabolism that involve AGAT and GAMT for creatine biosynthesis disorders and SLC6A8 for creatine transporter (CT1) deficiency. Deficiencies in the three enzymes c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00db880003776a32f7358de7821aa87c
https://doi.org/10.1016/j.ymgme.2013.04.006
https://doi.org/10.1016/j.ymgme.2013.04.006
Autor:
Qin Sun, Sandesh C.S. Nagamani, Mary A. Mullins, Ayelet Erez, Brendan Lee, E. O'Brian Smith, Oleg A. Shchelochkov, Soledad Kleppe, Brendan C. Lanpher, Juan C. Marini, Susan Carter
Publikováno v:
Molecular Genetics and Metabolism. 107:315-321
To compare the effects of combinatorial therapy with low-dose arginine and a nitrogen scavenging agent (sodium phenylbutyrate) vs. monotherapy with high-dose arginine on liver function tests in patients with argininosuccinic aciduria (ASA).Twelve pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f0decf0a73cf58d2887b8c9832d503e
https://doi.org/10.1016/j.ymgme.2012.09.016
https://doi.org/10.1016/j.ymgme.2012.09.016
Autor:
Laurence B. McCullough, Vernon R. Sutton, Shannon French, Sheila K. Gunn, Soledad Kleppe, Lefkothea P. Karaviti, Jonathan S. Berg
Publikováno v:
The Journal of Pediatrics. 150:434-438
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8ce0a548febce69efc10a0bfe835a60
https://doi.org/10.1016/j.jpeds.2006.12.037
https://doi.org/10.1016/j.jpeds.2006.12.037
Autor:
Fernando Scaglia, Susan Carter, Juan C. Marini, William E. O'Brien, Soledad Kleppe, Brendan Lee, Farook Jahoor, Peter J. Garlick, Nicola Brunetti-Pierri
Publikováno v:
The Journal of Nutrition. 134:2775S-2782S
Urea cycle disorders (UCD) are human conditions caused by the dysregulation of nitrogen transfer from ammonia nitrogen into urea. The biochemistry and the genetics of these disorders were well elucidated. Earlier diagnosis and improved treatments led
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e8a45eb645175a242e555a62c09e13f
https://doi.org/10.1093/jn/134.10.2775s
https://doi.org/10.1093/jn/134.10.2775s
Autor:
Soledad Kleppe, John R. Rodgers, W. Michael McCormack, Milton J. Finegold, Arthur L. Beaudet, Philip Ng, Viraj Mane, Asad Mian, Brendan Lee, William E. O'Brien
Publikováno v:
Molecular Therapy. 10(3):492-499
The urea cycle disorders (UCDs) are important models for developing gene replacement therapy for liver diseases. Long-term correction of the most common UCD, ornithine transcarbamylase (OTC) deficiency, has yet to be achieved in clinical or preclinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95416f409109603e99f5143e54a17d2e