Results 31 to 40 of about 830 (90)

The difference of variation types between late-onset multiple acyl-CoA dehydrogenase deficiency patients carrying biallelic and single heterozygous variations in ETFDH: a systematic review and meta-analysis. [PDF]

Orphanet J Rare Dis
Zhang H, Ma J, Su M, Zhao J, Duan W, Wang J, Liu D, Guo J, Chang X, Zhang W, Zhao R.   +10 more
europepmc   +1 more source

Pyrazolopyridine pyrimidone hybrids as potential DprE1 inhibitors, design, synthesis and biological evaluation as antitubercular agents. [PDF]

Sci Rep
Shah M, Patel I, Khona P, Patel H, Yadav MR, Nagani A.   +5 more
europepmc   +1 more source

Spermine Oxidase-Substrate Electrostatic Interactions: The Modulation of Enzyme Function by Neighboring Colloidal ɣ-Fe₂O₃. [PDF]

Biomolecules, 2023
Rilievo G, Magro M, Tonolo F, Cecconello A, Rutigliano L, Cencini A, Molinari S, Di Paolo ML, Fiorucci C, Rossi MN, Cervelli M, Vianello F.   +11 more
europepmc   +1 more source

Acquired Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Associated With Sertraline in Sweden-A Nationwide Population-Based Study. [PDF]

Eur J Neurol
Sunebo S, Nilsson E, Engvall M, Hedberg-Oldfors C, Shen Y, Nennesmo I, Danielsson O, Oldfors A, Appelqvist H, Lindgren U.   +9 more
europepmc   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review. [PDF]

Am J Med Genet A
VanSickle EA, Sarasua SM, Lowe T, Farrell CL, Boccuto L, Schwartz C, Pegg AE, Peron A, Faundes V, Ganapathi M, Chung WK, Ziegler A, Hofstede F, Prouteau C, Steindl K, Olson C, Devinsky O, Mastracci TL, Casero RA, Stewart TM, Gilmour S, Koerner T, Kutler MJ, Rajasekaran S, Michael J, Bachmann AS, Bupp CP.   +26 more
europepmc   +1 more source

A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report. [PDF]

Ital J Pediatr, 2022
De Pasquale L, Meo P, Fulia F, Anania A, Meli V, Mondello A, Raimondo MT, Tulino V, Coletta MS, Cacace C.   +9 more
europepmc   +1 more source

The hypusine pathway in Ixodes ricinus: molecular cloning and validation of deoxyhypusine synthase as a novel target for drug discovery to treat and prevent vector borne diseases. [PDF]

Front Cell Infect Microbiol
Kaiser A, Agostinelli E, Tsikas D.
europepmc   +1 more source

Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency. [PDF]

Eur J Hum Genet, 2022
Al Shamsi B, Al Murshedi F, Al Habsi A, Al-Thihli K.   +3 more
europepmc   +1 more source

PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review. [PDF]

BMC Med Genomics
Lin DF, Sheng H, Qu Q, Liao ZT.
europepmc   +1 more source

Effect of Temperature on Polyamine Oxidase Genes in <i>Skeletonema dohrnii</i>. [PDF]

Int J Mol Sci
Teng W, Sun J.
europepmc   +1 more source