Results 171 to 180 of about 9,571 (221)

Prenatal Diagnosis of Neuronal Ceroid Lipofuscinosis

New England Journal of Medicine, 1984
P M, MacLeod, C L, Dolman, R E, Nickel, E, Chang, J, Zonana, K, Silvey   +5 more
openaire   +4 more sources

Juvenile neuronal ceroid lipofuscinosis

The Indian Journal of Pediatrics, 2000
A 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, R, Maheshwari, M, Kabra, I C, Verma, V, Kalra   +4 more
openaire   +2 more sources

Equine neuronal ceroid lipofuscinosis

Acta Neuropathologica, 2001
Neuronal ceroid lipofuscinosis (NCL) is an inherited, neurodegenerative disorder with fatal outcome in humans. It has also been described in some animal species; this is the first report of NCL in equines. Three horses showed developmental retardation, slow movements and loss of appetite at the age of six months.
A, Url, B, Bauder, J, Thalhammer, N, Nowotny, J, Kolodziejek, N, Herout, S, Fürst, H, Weissenböck   +7 more
openaire   +2 more sources

Neuronal Ceroid-Lipofuscinosis

Archives of Neurology, 1977
To the Editor.— We read with interest the article by Markesbery et al in the September issue of theArchives. We believe these authors' studies confirm our initial reports of the contribution to the diagnosis of the neuronal ceroid-lipofuscinosis by electron microscopical study of lymphocytes in patients with clinical manifestation of the disease.
P. M. MacLeod, C. L. Dolman
openaire   +1 more source

Neuronal Ceroid-Lipofuscinosis

European Neurology, 1973
The autopsy material of two brothers suffering of neuronal ceroid-lipofuscinosis was studied histologically, electron microscopically, and neurochemically.
T.J. Nevalainen, M. Panelius, P.J. Riekkinen   +2 more
openaire   +1 more source

Diagnosis of Neuronal Ceroid Lipofuscinosis

New England Journal of Medicine, 1978
openaire   +4 more sources

Neuronal Ceroid Lipofuscinosis

2010
Neuronal ceroid lipofuscinoses (NCL) are lysosomal storage diseases comprising a group of progressive neurodegenerative disorders inherited in an autosomal recessive manner. In children, they represent the most common neurodegenerative disorder. Three major types of NCL are distinguished clinically: infantile, late onset infantile, and juvenile.
Margit Pavelka, Jürgen Roth
openaire   +2 more sources