Results 221 to 230 of about 12,985,405 (284)
Some of the next articles are maybe not open access.
The “Double Panda” Sign in Leigh Disease
Journal of Child Neurology, 2013Although the “face of the giant panda” sign on magnetic resonance imaging (MRI) is traditionally considered to be characteristic of Wilson disease, it has also been reported in other metabolic disorders. This study describes the characteristic “giant panda” sign on MRI in a child with Leigh disease.
Kothari, Sonam +9 more
openaire +3 more sources
ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism
Brain, 2014Ronald J A Wanders +2 more
exaly +2 more sources
Clinical Pediatrics, 1995
Two children are described with pathology-proven Leigh disease. Rather than the typical degenerative course with loss of acquired development, they presented with a static encephalopathy manifested by seizures from birth and failure to acquire any milestones.
S B, Coker, C, Thomas
openaire +2 more sources
Two children are described with pathology-proven Leigh disease. Rather than the typical degenerative course with loss of acquired development, they presented with a static encephalopathy manifested by seizures from birth and failure to acquire any milestones.
S B, Coker, C, Thomas
openaire +2 more sources
PERIPHERAL NEUROPATHY IN LEIGH'S DISEASE
Brain, 1990Sural nerves were examined in 3 childhood cases of Leigh's disease (from 2 families), each with electrophysiological documentation of peripheral neuropathy. Postmortem confirmation of Leigh's disease was made in 2 cases; the third had characteristic CT scan appearances.
J M, Jacobs +4 more
openaire +2 more sources
Cardiomyopathy associated with Leigh's disease
Virchows Archiv A Pathological Anatomy and Histopathology, 1985Clinical and postmortem findings in a female infant, suffering from Leigh's disease and cardiomegaly are described. The cardiac enlargement was due to symmetrical thickening of both ventricular walls and the septum. On light microscopy a widespread fibre disarray with a slight predilection for the ventricular septum was observed.
K, Langes +3 more
openaire +2 more sources
Archives of Neurology, 1974
Leigh disease has distinct neuropathologic characteristics, but a poorly understood pathogenesis. All patients with this diagnosis proved at autopsy have had an inhibitor to the synthesis of thiamine triphosphate in their body fluids and reduced thiamine triphosphate concentration in their brains. To understand better the role of the inhibitor in Leigh
openaire +1 more source
Leigh disease has distinct neuropathologic characteristics, but a poorly understood pathogenesis. All patients with this diagnosis proved at autopsy have had an inhibitor to the synthesis of thiamine triphosphate in their body fluids and reduced thiamine triphosphate concentration in their brains. To understand better the role of the inhibitor in Leigh
openaire +1 more source
Subacute necrotizing encephalomyelopathy (Leigh's disease)
Pediatrics, 1977Subacute necrotizing encephalomyelopathy (SNE) was first described in 1951 by Denis Leigh.1 Since then, well over 100 cases have been described, and probably as many as 100 more have been diagnosed (at postmortem examination) and not recorded. With an increased awareness of the clinical features of this disease comes an increase in early diagnosis ...
D W, McCandless, W E, Hodgkin
openaire +2 more sources
“Ragged‐red” fibers in Leigh's disease
Neurology, 1974A patient with chronic Leigh9s necrotizing encephalomyelopathy also had cardiomyopathy and a prominent “mitochondria1 myopathy.” It is speculated that (1) muscle often may be involved in Leigh9s disease and might serve as an important tissue for biochemical investigation, (2) certain “neurodegenerative disorders” known in the literature by other terms ...
T W, Crosby, S M, Chou
openaire +2 more sources
An adult case of Leigh disease
Clinical Neurology and Neurosurgery, 2004Leigh's disease is a mitochondrial disease of infancy and early childhood, and is rare in adults. Following a febrile illness, a 21-year-old woman developed ataxic paraparesis and was originally diagnosed as multiple sclerosis. Her illness progressed to somnolence and quadriparesis.
Malojčić, Branko +3 more
openaire +3 more sources