Results 111 to 120 of about 6,644 (221)

Juvenile neuronal ceroid-lipofuscinosis (Batten disease): A propos an unusual case diagnosed by electron microscopy

, 2004
Neuronal ceroid-lipofuscinosis, Batten disease, is a lysosomal storage disease which clinically and genetically contains heterogenity. Its differential diagnosis is very difficult with clinical and routine laboratory investigations. The authors present a
Turgut M., Aktug H., Tütüncüoglu S., Öktem G., Ateş U., Serdaroglu G., Yurtseven M., Baka M.   +7 more
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Vision Loss as the Presenting Symptom of Juvenile Neuronal Ceroid Lipofuscinosis

, 1999
To review cases of juvenile neuronal ceroid lipofuscinosis (JNCL), to highlight salient clinical and diagnostic features, and thereby to enhance recognition among ...
Lisa I. Bohra; Jennifer S. Weizer; Andrew G. Lee; Richard A. Lewis
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Neuronal Ceroid Lipofuscinosis [PDF]

, 2020
openaire   +3 more sources

Molecular and cellular biology of infantile neuronal ceroid lipofuscinosis (INCL) [PDF]

, 2001
Väitöskirjaei tietoa saavutettavuudesta unknown ...
Salonen, Tarja
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Juvenile neuronal ceroid lipofuscinosis (Batten's disease) in a Poodle dog

, 1996
Clinical and pathological findings consistent with neuronal ceroid-lipofuscinosis were evaluated in a 2.5-year-old purebred standard Poodle dog. Progressive visual loss and neurological deficits were observed since 2 years of age.
ARISPICI M, PEPE V, BUONACCORSI A, CANTILE C   +3 more
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Global and widespread local white matter abnormalities in juvenile neuronal ceroid lipofuscinosis

, 2018
: BACKGROUND AND PURPOSE: Juvenile neuronal ceroid lipofuscinosis is a progressive neurodegenerative lysosomal storage disease of childhood. It manifests with loss of vision, seizures, and loss of cognitive and motor functions leading to premature death.
Lonnqvist, T., Hakkarainen, A., Mannerkoski, M., Roine, U., Balk, M. H., Tokola, A., Autti, T., Roine, Timo, Aberg, L. E.   +8 more
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Neuronal ceroid lipofuscinosis

, 2021
openaire   +1 more source

Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus. [PDF]

Mol Genet Metab Rep, 2023
Eto K, Itagaki R, Takamura A, Eto Y, Nagata S.   +4 more
europepmc   +1 more source

PPARα and RXRα in the regulation of neuronal ceroid lipofuscinosis genes: implications for Batten disease therapy. [PDF]

NeuroImmune Pharm Ther
Chandra S, Pahan K.
europepmc   +1 more source

Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report. [PDF]

World J Clin Cases, 2023
Wang XQ, Chen CB, Zhao WJ, Fu GB, Zhai Y.   +4 more
europepmc   +1 more source