Zobrazeno 1 - 7
of 7
pro vyhledávání: '"José E. Abdenur"'
Autor:
Tuany Eichwald, Lucila de Bortoli da Silva, Ananda Christina Staats Pires, Laís Niero, Erick Schnorrenberger, Clovis Colpani Filho, Gisele Espíndola, Wei-Lin Huang, Gilles J. Guillemin, José E. Abdenur, Alexandra Latini
Publikováno v:
Antioxidants, Vol 12, Iss 5, p 1037 (2023)
Tetrahydrobiopterin (BH4) is an endogenous cofactor for some enzymatic conversions of essential biomolecules, including nitric oxide, and monoamine neurotransmitters, and for the metabolism of phenylalanine and lipid esters. Over the last decade, BH4
Externí odkaz:
https://doaj.org/article/8a0549071e594cd28f4e3e63c2ae851f
Autor:
Wei-Lin Huang, Maija R. Steenari, Rebekah Barrick, Mariella T. Simon, Richard Chang, Shaya S. Eftekharian, Alexander Stover, Philip H. Schwartz, Alexandra Latini, Jose E. Abdenur
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101025- (2024)
Background: LBSL is a mitochondrial disorder caused by mutations in the mitochondrial aspartyl-tRNA synthetase gene DARS2, resulting in a distinctive pattern on brain magnetic resonance imaging (MRI) and spectroscopy. Clinical presentation varies fro
Externí odkaz:
https://doaj.org/article/1a45fc52d11a4d23afe8ed165c1b53b1
Publikováno v:
American Journal of Perinatology Reports, Vol 13, Iss 01, Pp e11-e16 (2023)
Total parental nutrition (TPN) is a critical component of neonatal intensive care. Supply shortages leading to deficiencies in TPN constituents can have devastating consequences for critically ill patients in the neonatal intensive care unit (NICU),
Externí odkaz:
https://doaj.org/article/3979fbbcf7de4685834466fadb0bfa5b
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100885- (2022)
S-Adenosylhomocysteine (SAH) hydrolase deficiency is an autosomal recessive disorder in methionine metabolism caused by pathogenic variants in the gene AHCY. To date, only 15 patients with this disorder have been reported, including several patients
Externí odkaz:
https://doaj.org/article/7bfa90a56a824c9f832467c635b38698
Autor:
Cristel C. Chapel-Crespo, Ricardo Villalba, Raymond Wang, Monica Boyer, Richard Chang, Hans R. Waterham, Jose E. Abdenur
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100608- (2020)
Externí odkaz:
https://doaj.org/article/d0e4a570f8cd4a7ba27e5a1a7d1b77d6
Autor:
Rachel D. Torok MD, Stephanie L. Austin MS, Lisa K. Britt RDCS, Jose E. Abdenur MD, Priya S. Kishnani MD, Stephanie B. Wechsler MD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017)
Pulmonary arterial hypertension (PAH) is a rare and highly fatal disease that has been reported in 8 patients with glycogen storage disease type I (GSDI). We describe an additional case of an acute presentation of PAH in a 14-year-old patient with GS
Externí odkaz:
https://doaj.org/article/8287655a6170433fb601987799afaa60
Autor:
Juan C. Cresto, Cecilia Giulive, J. C. Basabe, Viviana D'Alessandro, José E. Abdenur, Ma. Del Carmen Camberos
Publikováno v:
In vitro cellulardevelopmental biology : journal of the Tissue Culture Association. 24(8)