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Aspectos morfológicos de biópsias musculares em equinos com miopatia sob forma de surto
(Colégio Brasileiro de Patologia Animal - CBPA, 2011-07-01)
As miopatias em equinos são classificadas de acordo com aspectos clínicos, morfológicos e moleculares, em três grandes grupos: não associadas ao exercício, associadas ao exercício e devido alteração da condução elétrica ...
Aspectos morfológicos de biópsias musculares em equinos com miopatia sob forma de surto
(Colégio Brasileiro de Patologia Animal - CBPA, 2011-07-01)
As miopatias em equinos são classificadas de acordo com aspectos clínicos, morfológicos e moleculares, em três grandes grupos: não associadas ao exercício, associadas ao exercício e devido alteração da condução elétrica ...
Aspectos morfológicos de biópsias musculares em equinos com miopatia sob forma de surto
(Colégio Brasileiro de Patologia Animal - CBPA, 2014)
Teaching NeuroImages: Longitudinally extensive transverse myelitis in MELAS
(Lippincott Williams & Wilkins, 2016)
A 16-year-old girl presented with acute-onset flaccid quadriparesis with urinary incontinence. Medical history unveiled generalized epilepsy since age 7 years and status epilepticus 3 years before. Multisystem compromise ...
A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(Gln) anticodon loop
(Elsevier B.V., 2000-10-01)
We report a novel mitochondrial DNA alteration in a 12-year-old boy with myopathy. We identified a single nucleotide insertion tan adenine) in the mitochondrial tRNA-glutamine gene. This addition of an additional adenine ...
Neuromyopathy with congenital cataracts and glaucoma: A distinct syndrome caused by POLG variants /692/308 /692/699 article
(Nature Publishing Group, 2018)
© 2018 European Society of Human Genetics.We identified three non-related patients manifesting a childhood-onset progressive neuromyopathy with congenital cataracts, delayed walking, distal weakness and wasting, glaucoma ...
Progressive myopathy with a combined respiratory chain defect including Complex II
(Elsevier B.V., 2008-01-15)
Biochemical defects in the respiratory chain are mostly associated with deficiencies in Complexes I, III and IV, caused by nuclear or mitochondrial DNA mutations. Combined defects including Complex II have been reported ...
Reduction of in vitro and in vivo starch digestibility in baked starchy matrices formulated with soluble dietary fiber
(2024)
El consumo excesivo de alimentos ricos en almidón se ha relacionado con la prevalencia mundial de enfermedades crónicas relacionadas con la dieta, como la obesidad y la diabetes tipo 2. El estado físico de los gránulos de ...
Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients
(Elsevier Inc, 2021-06)
Objective: To describe the clinical and molecular features of a group of Argentinian pediatric patients with mitochondrial DNA (mtDNA) disorders, and to evaluate the results of the implementation of a classical approach ...