Results 41 to 50 of about 109,135 (259)
Staging and optical coherence tomography characteristics of gyrate atrophy of choroid and retina
TNOA Journal of Ophthalmic Science and Research, 2021 This photo essay describes the optical coherence tomography (OCT) characteristics seen in gyrate atrophy (GA). A 39-year-old female presented with decreased night vision and peripheral vision, best-corrected visual acuity of 20/60 N10 and 20/40 N8 in ...
Priya Rasipuram Chandrasekaran
doaj +1 more source
Retinal Detachment Due To Gyrate Atrophy [PDF]
, 2015 Bu olguda daha önce Gyrate atrofi tanısı almış 7 yaşında bir çocuk hastada gelişen total retina dekolmanı sunulmuştur. Herhangi bir travma öyküsü olmayan hasta sağ gözde görme kaybı ile kliniğe başvurdu.
Ayar, Orhan +3 more
core +2 more sources
, 1992 Gyrate atrophy is a hereditary chorioretinal degenerative disease caused by a deficiency of the mitochondrial enzyme, ornithine aminotransferase (OAT).
Inana, G, Hotta, Y
core +4 more sources
, 2023 Additional file 1: Table S1: Molecular diagnosis, clinical and biochemical findings in a cohort of 18 patients with gyrate atrophy. Table S2: Comorbidities observed in 13 individuals with gyrate atrophy. [Body composition measured in an outpatient clinic
Christopher Campbell (3440033) +10 more
core +1 more source
Membrane composition and thermodynamic identity as boundaries of life for synthetic cell research
FEBS Letters, EarlyView.What makes a cell a cell? The boundary of a living cell is not just a wall. Read as a Markov blanket, the membrane separates internal from external states, generating identity and non‐equilibrium order. Can this identity be rebuilt from scratch in a synthetic cell?
Caterina Presutti, Bert Poolman
wiley +1 more source
Pancreatic involvement in patients with inborn errors of metabolism
Orphanet Journal of Rare Diseases, 2021 Background Repeated inflammation of the pancreas can cause pancreatitis or diabetes. It is well recognized that the organic acidemias may be complicated by pancreatitis but less recognized are other metabolic disorders in which pancreatitis can occur ...
Woo Jin Hwang +8 more
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Recent insights into the molecular mechanism of ubiquinol oxidation by cytochrome bc1
FEBS Open Bio, EarlyView.The review reflects on the mechanism of the catalytic reaction in cytochrome bc1: the electron bifurcation that involves the separation of two electrons derived from the quinol oxidation to opposite sides of the enzyme across the membrane. This review summarizes the long‐standing effort to understand the mechanism of quinol oxidation catalyzed by ...
Anna Wójcik‐Augustyn +2 more
wiley +1 more source
FEBS Open Bio, EarlyView.Functional screening identified PcSyn14890, a cyanobacteria‐specific protein that enhances growth and stress resistance in E. coli and Synechocystis PCC6803. Although we expected it to function as a molecular chaperone, it was unable to protect against thermal aggregation of GAPDH.
Akiyo Yamada +7 more
wiley +1 more source
Ophthalmologic findings in patients with inborn errors of metabolism
Acta Pediátrica de México, 2014 In patient with inborn errors of metabolism (IEM), the presence of characteristic findings in ophthalmic assessment are important for the diagnosis. The presence of cataracts, cherry-red spot, corneal opacities, corneal crystals, lens dislocation, gyrate
Guevara Márquez Yamel Carolina +2 more
doaj +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source