Results 111 to 120 of about 2,498 (170)
Some of the next articles are maybe not open access.
Splenic lipofuscinosis in mice
The Journal of Pathology, 1978Autopsy examination of young adult mice revealed a characteristic pigmentation of the anterior splenic pole occurring in a high proportion (8-34 per cent) of three mouse strains and two sublines. Histological studies identified the pigment as lipofuscin and electron microscopy provided supporting evidence.
Crichton, D N, Busuttil, A, Price, W H
openaire +2 more sources
Pigment variant of lipofuscinosis
Neurology, 1978A woman had a progressive neurologic syndrome beginning at age 3 and lasting for three decades. Clinical manifestations included severe mental deterioration, spastic paralysis, myoclonus, and tremors. A postmortem examination showed ubiquitous infiltration of neurons by lipofuscin and deposits of pigment in the globus pallidus and substantia nigra, as ...
G A, Jervis, R K, Pullarkat
openaire +2 more sources
Congenital ceroid-lipofuscinosis
Pediatric Neurology, 1992A term infant, observed at birth to be microcephalic, developed status epilepticus and died 36 hours later. At autopsy a markedly atrophic brain was found which, by microscopic examination, demonstrated changes consistent with neuronal ceroid-lipofuscinosis. Cerebral lipidosis with microcephaly presenting at birth is extremely rare. Congenital neuronal
R J, Barohn +2 more
openaire +2 more sources
Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis [PDF]
FEBS Letters, 1993 We have isolated storage cytosomes from brain tissue of patients with infantile neuronal ceroid-lipofuscinosis. The purified storage bodies were subjected to compositional analysis which revealed a high content of proteins, accounting for 43% of dry ...
David Palmer +2 more
exaly +2 more sources
Peroxidase in ceroid-lipofuscinosis
Journal of the Neurological Sciences, 1978Peroxidase determination in leucocyte homogenates of 3 patients with ceroid-lipofuscinosis the infantile, late-infantile, and juvenile form, was not different from normal control values.
W R, Den Tandt, J J, Martin
openaire +2 more sources
Juvenile neuronal ceroid lipofuscinosis
The Indian Journal of Pediatrics, 2000A case of juvenile neuronal ceroid lipofuscinosis (JNCL) diagnosed on the basis of clinical features, electrophysiologic studies and skin electron microscopy is reported. JNCL was suspected on the basis of characteristic symptoms including progressive loss of vision, seizures, mental retardation and motor disabilities.
S, Gulati +4 more
openaire +2 more sources
Neurology, 1987
The diagnosis of the childhood forms of neuronal ceroid lipofuscinosis is considered when a child presents with seizures, dementia, and pigmentary change in the retina. A diagnosis is based on the result of skin or conjunctival biopsy. We report two children who had CTs obtained at the onset of seizures and prior to the occurrence of intellectual ...
openaire +2 more sources
The diagnosis of the childhood forms of neuronal ceroid lipofuscinosis is considered when a child presents with seizures, dementia, and pigmentary change in the retina. A diagnosis is based on the result of skin or conjunctival biopsy. We report two children who had CTs obtained at the onset of seizures and prior to the occurrence of intellectual ...
openaire +2 more sources
IDIOPATHIC RENAL LIPOFUSCINOSIS
Acta Pathologica Microbiologica Scandinavica Section A Pathology, 1970Two cases of dark‐brown or black discoloration of the human kidney are described and the condition compared with two previously reported cases. The abnormal colour is due to a deposition of brown pigment in the epithelium of the proximal tubules. The staining properties and histochemistry of the pigment granules seem to allow identification of the ...
T, Lund, S, Olsen
openaire +2 more sources
Canine Hereditary Ceroid Lipofuscinosis
European Neurology, 2008Dogs with an inherited form of ceroid lipofuscinosis are ataxic, blind and demented. During the disease process, they undergo severe cerebrocerebellar atrophy with storage of autofluorescent, lipid peroxide-positive reacting substances whose ultrastructure resembles ‘fingerprint’ patterns of membranous lamellae.
D, Armstrong, N, Koppang, S E, Nilsson
openaire +2 more sources
An unusual type of infantile lipofuscinosis
Acta Neuropathologica, 1975The case of a child is described who at the age of 2 years showed the first evidence of a developing neurological disease. Within a couple of years, profound mental retardation and severe motor deficit with spastic tetraplegia became established. No seizures and no pigmentation of the retina were observed.
G A, Jervis, S, Donahue
openaire +2 more sources