Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Luis Pablo Gravina"'
Autor:
Carolina Crespo, Hernán Eiroa, María Inés Otegui, Mara Cecilia Bonetto, Lilien Chertkoff, Luis Pablo Gravina
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100695- (2020)
Background: Classical galactosemia is an autosomal recessive inherited metabolic disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. GALT enzyme deficiency leads to the accumulation of galactose-1-phosphate in var
Externí odkaz:
https://doaj.org/article/068457ff54c743868ab8415cdf1925cf
Autor:
Josefina Chinton, Victoria Huckstadt, Maria Eugenia Foncuberta, Maria Mercedes Perez, Mara Cecilia Bonetto, Luis Pablo Gravina, María Gabriela Obregon
Publikováno v:
American Journal of Medical Genetics Part A. 188:2505-2508
Noonan syndrome (NS) is caused by pathogenic variants in genes involved in the RAS/MAPK pathway. On the other hand, 22q11.2 Deletion Syndrome (22q11.2DS) is caused by heterozygous microdeletion on chromosome 22q11.2. The clinical characteristics of b
Publikováno v:
American Journal of Medical Genetics Part A. 185:1256-1260
Rasopathies are a group of phenotypically overlapping conditions that include Noonan, Noonan with multiple lentigines, Noonan with loose anagen hair, Costello, Cardio-facio-cutaneous, and Neurofibromatosis-Noonan syndromes. Noonan syndrome with loose
Publikováno v:
Journal of Neuromuscular Diseases. 7:453-458
Background: SMA1 natural history is characterized by early development of chronic respiratory failure. Respiratory interventions in type 1 SMA infants are subject to great practice variability. Nusinersen, has been recently approved in Argentina. The
Autor:
María Inés Otegui, Lilien Chertkoff, Luis Pablo Gravina, Carolina Crespo, Mara Cecilia Bonetto, Hernán Eiroa
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100695-(2020)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Background Classical galactosemia is an autosomal recessive inherited metabolic disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. GALT enzyme deficiency leads to the accumulation of galactose-1-phosphate in vari
Autor:
Moacir Wajner, Laura Vargas Fleith, Marion Deon, Maria Teresa Vieira Sanseverino, Daniella de Moura Coelho, Carmen Regla Vargas, Luis Pablo Gravina, Carolina Crespo, Larissa Murussi, Angela Sitta, Patrícia Rodrigues da Silva
Publikováno v:
Jornal Brasileiro de Patologia e Medicina Laboratorial, Vol 56 (2020)
Female patient carrier of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) with recurrent clinical episodes of hypoglycemia and altered level of consciousness, presented changes in blood acylcarnitine profile by tandem mass spectrometry and in
Publikováno v:
Pediatric Respiratory Diseases ISBN: 9783030269609
Cystic fibrosis is a multisystem and autosomal recessive disease, affecting mainly the respiratory, digestive, and reproductive systems, that is caused by mutations in the gene called cystic fibrosis transmembrane conductance regulator. From a functi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::72b09135c1a8baf3b2474d4aec973e4a
https://doi.org/10.1007/978-3-030-26961-6_44
https://doi.org/10.1007/978-3-030-26961-6_44
Autor:
Luis Pablo Gravina
Publikováno v:
Archivos Argentinos de Pediatria. 117
Autor:
Mafalda Mucciolo, María Gabriela Obregon, Francesca Romana Lepri, Antonio Novelli, Josefina Chinton, Luis Pablo Gravina, Victoria Huckstadt
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(2)
Noonan syndrome (NS, OMIM 163950) is a common autosomal dominant RASopathy caused mainly by gain-of-function germline pathogenic variants in genes involved in the RAS/MAPK signaling pathway. LZTR1 gene has been associated with both dominant and reces
Autor:
Cristina Jimenez, Paulo Cáceres Guido, Mariel Perez, Paula Schaiquevich, Manuel Ibarra, Nieves Licciardone, Facundo García Bournissen, Mariela Ferrari, Claudio Castaños, Alicia Halac, Luis Pablo Gravina
Publikováno v:
Pediatric pulmonology. 54(11)
Introduction Amikacin is commonly used in patients with pediatric cystic fibrosis (CF) for the treatment of pulmonary exacerbations. Amikacin efficacy is related to maximum plasma concentration/minimum inhibitory concentration (Cmax/MIC) ratio >8. Ph