Results 91 to 100 of about 2,001,857 (129)

A prevalent MOCS2 variant in the Roma population is associated with a novel mild form of molybdenum cofactor deficiency. [PDF]

Eur J Pediatr
Cho SK, Schwarz G, Tasic V, Křížková M, Krijt J, Roeper J, Honzík T, Šebesta I, Kožich V, Šaligová J, Pavelcova K, Masinova J, Winkler CA, Stiburkova B.   +13 more
europepmc   +1 more source

Brain Magnetic Resonance Imaging of Children With Molybdenum Cofactor Deficiency. [PDF]

J Inherit Metab Dis
Schwahn BC, Sinha R, Wright JAM, Pavaine J.   +3 more
europepmc   +1 more source

Impaired gephyrin G-domain trimerization and phase separation in a patient with developmental epileptic encephalopathy. [PDF]

EMBO Mol Med
Bruckisch EHW, de Melo Aragão M, Dos Santos Rohde T, Huber AK, de Oliveira Torres M, Schwarz G, Liebsch F.   +6 more
europepmc   +1 more source

Neuroimaging in Children With Inherited Metabolic Epilepsies. [PDF]

Neurology
Tokatly Latzer I, Yang E, Pimenta de Figueiredo VL, Huang SY, Matsubara T, Pearl PL.   +5 more
europepmc   +1 more source

An atlas of plant selenium metabolism. [PDF]

New Phytol
van der Woude J, Aarts MGM, Schiavon M, van der Ent A.   +3 more
europepmc   +1 more source

Mitochondrial Dysfunctions in Human Primary Coenzyme Q₁₀ Deficiencies. [PDF]

Biomolecules
Fontaine F, Pénicaud R, Allouche S.
europepmc   +1 more source

Trace Elements and Viral Infectious Diseases: Dual Roles in Pathogenesis and Immunity. [PDF]

Infect Dis Rep
Medeiros CMDS, Sousa MDS, Alfredo LHM, de Jesus JR, Lopes Júnior CA.   +4 more
europepmc   +1 more source

Pediatric stroke in inborn errors of metabolism: clinical characteristics, neuroimaging features, and short-term outcomes. [PDF]

Front Neurol
Alvi JR, Wasim A, Ahdi SG, Sultan T, Zia-Ur-Rehman M, Al-Thihli K, Al Murshedi F, Al Futaisi A.   +7 more
europepmc   +1 more source

Organelle-specific hydrogen sulfide metabolism governs redox homeostasis to regulate plant autophagy and cadmium stress resilience. [PDF]

Redox Biol
Carrillo R, Moreno I, Aroca A, Gotor C.
europepmc   +1 more source

The Role of Antioxidant Minerals in the Pathophysiology and Treatment of Endometriosis-Systematic Review. [PDF]

Antioxidants (Basel)
Pokorska-Niewiada K, Ziętek M, Szydłowska I, Ryterska K, Szczuko M.   +4 more
europepmc   +1 more source