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ceroid lipofuscinosis - type of storage disease caused by accumulation of lipopigments in body tissues
Definition for ceroid lipofuscinosis
Neuronal Ceroid Lipofuscinoses (NCL, also known as Batten Disease) is the general name for a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumlation of lipopigments (lipofuscin) in the body's tissues.
more
Neuronal Ceroid Lipofuscinoses (NCL, also known as Batten Disease) is the general name for a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumlation of lipopigments (lipofuscin) in the body's tissues. These lipopigments are made up of fats and proteins. Their name comes from the technical word lipo, which is short for "lipid" or fat, and from the term pigment, used because they take on a greenish-yellow color when viewed under an ultraviolet light microscope. The lipopigments build up in cells of the brain and the eye as well as in skin, muscle, and many other tissues.
less
some common symptoms
abnormal gait
delayed development
low muscle tone
poor coordination
some related diagnoses
1 - 7 of
31
diagnoses
Hartnup disease
urea cycle disorders
human immunodeficiency virus infections
myopathies
hereditary ataxias, adult type
limb girdle muscular dystrophies
Friedreich's ataxia
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do i have 'ceroid lipofuscinosis'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'ceroid lipofuscinosis'
1 - 5 of
30
diagnostic tests
Biopsy
ceroid lipofuscinosis and Biopsy
Biopsy skin
ceroid lipofuscinosis and Biopsy skin
Molecular Genetic Studies
ceroid lipofuscinosis and Molecular Genetic Studies
Brain MRI
ceroid lipofuscinosis and Brain MRI
CT brain
ceroid lipofuscinosis and CT brain
EEG - Electroencephalogram
ceroid lipofuscinosis and EEG - Electroencephalogram
Palmitoyl protein thioesterase (PPT) in dried blood spots
ceroid lipofuscinosis and Palmitoyl protein thioesterase (PPT) in dried blood spots
Palmitoyl protein thioesterase (PPT) in fibroblasts
ceroid lipofuscinosis and Palmitoyl protein thioesterase (PPT) in fibroblasts
Palmitoyl protein thioesterase (PPT) in saliva
ceroid lipofuscinosis and Palmitoyl protein thioesterase (PPT) in saliva
Palmitoyl protein thioesterase (PPT) in white cells
ceroid lipofuscinosis and Palmitoyl protein thioesterase (PPT) in white cells
Tripeptidyl peptidase 1 (TTP1)
ceroid lipofuscinosis and Tripeptidyl peptidase 1 (TTP1)
Tripeptidyl peptidase 1 (TTP1) in dried blood spots
ceroid lipofuscinosis and Tripeptidyl peptidase 1 (TTP1) in dried blood spots
Tripeptidyl peptidase 1 (TTP1) in fibroblasts
ceroid lipofuscinosis and Tripeptidyl peptidase 1 (TTP1) in fibroblasts
Tripeptidyl peptidase 1 (TTP1) in saliva
ceroid lipofuscinosis and Tripeptidyl peptidase 1 (TTP1) in saliva
Tripeptidyl peptidase 1 (TTP1) in white blood cells
ceroid lipofuscinosis and Tripeptidyl peptidase 1 (TTP1) in white blood cells
subunit C of the ATP synthase complex (SCMAS)
ceroid lipofuscinosis and subunit C of the ATP synthase complex (SCMAS)
Electron Microscopy
ceroid lipofuscinosis and Electron Microscopy
Electroretinogram (ERG)
ceroid lipofuscinosis and Electroretinogram (ERG)
Evoked potential somatosensory
ceroid lipofuscinosis and Evoked potential somatosensory
Magnetic Resonance Imaging (MRI) Spectroscopy
procedure to determine structure of molecules
ceroid lipofuscinosis and Magnetic Resonance Imaging (MRI) Spectroscopy
Positron emission tomography (PET)
ceroid lipofuscinosis and Positron emission tomography (PET)
Biopsy brain
ceroid lipofuscinosis and Biopsy brain
Autofluorescence
technique to illuminate the structures of interest
ceroid lipofuscinosis and Autofluorescence
Visual evoked potential (VEP)
ceroid lipofuscinosis and Visual evoked potential (VEP)
CT scan
ceroid lipofuscinosis and CT scan
Electroretinogram
ceroid lipofuscinosis and Electroretinogram
Genetic evaluation
ceroid lipofuscinosis and Genetic evaluation
cultured skin fibroblasts for biochemical study
ceroid lipofuscinosis and cultured skin fibroblasts for biochemical study
direct enzymatic assay in fibroblasts
ceroid lipofuscinosis and direct enzymatic assay in fibroblasts
direct enzymatic assay in white blood cells
ceroid lipofuscinosis and direct enzymatic assay in white blood cells
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therapeutic procedures for 'ceroid lipofuscinosis'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for ceroid lipofuscinosis:
therapeutic procedure search results for 'ceroid lipofuscinosis'
1 - 3 of
3
therapeutic procedures
rankings are computer generated. please consult your health care provider.
Palmitoyl protein thioesterase (PPT)
ceroid lipofuscinosis and Palmitoyl protein thioesterase (PPT)
Hematopoietic stem cell transplantation
ceroid lipofuscinosis and Hematopoietic stem cell transplantation
Histocompatibility testing
ceroid lipofuscinosis and Histocompatibility testing
medications search results for 'ceroid lipofuscinosis'
1 - 5 of
13
medications
rankings are computer generated. please consult your health care provider.
Carbamazepine
ceroid lipofuscinosis and Carbamazepine
Phenytoin
ceroid lipofuscinosis and Phenytoin
Phenobarbital
ceroid lipofuscinosis and Phenobarbital
Valproic acid
ceroid lipofuscinosis and Valproic acid
Gabapentin
ceroid lipofuscinosis and Gabapentin
Lamotrigine
ceroid lipofuscinosis and Lamotrigine
Levetiracetam
ceroid lipofuscinosis and Levetiracetam
Topiramate
ceroid lipofuscinosis and Topiramate
Oxcarbazepine
ceroid lipofuscinosis and Oxcarbazepine
Zonisamide
ceroid lipofuscinosis and Zonisamide
Tiagabine
ceroid lipofuscinosis and Tiagabine
Felbamate
ceroid lipofuscinosis and Felbamate
Pregabalin
ceroid lipofuscinosis and Pregabalin
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web search results for ceroid lipofuscinosis
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1 - 50
- ceroid lipofuscinosis
Neuronal ceroid lipofuscinosis - Wikipedia, the free encyclopedia
Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein" ... Neuronal ceroid-lipofuscinosis--late-infantile or Jansky-Bielschowsky type--revisited" ...
http://en.wikipedia.org/wiki/Neuronal_ceroid_lipofuscinosis
en.wikipedia.org
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summary
Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.
... Late-infantile neuronal ceroid lipofuscinosis (LINCL), an autosomal recessively ... Ceroid-Lipofuscinoses/diagnosis. Neuronal Ceroid-Lipofuscinoses ...
http://www.ncbi.nlm.nih.gov/pubmed/11339651
www.ncbi.nlm.nih.gov
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summary
[Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis ...
[Tripeptidyl peptidase 1 deficiency in neuronal ceroid lipofuscinosis. A novel mutation] ... late infantile neuronal ceroid lipofuscinosis (CLN2) are presented. ...
http://www.ncbi.nlm.nih.gov/pubmed/12698559
www.ncbi.nlm.nih.gov
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summary
Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are ...
... late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in ... late infantile neuronal ceroid lipofuscinosis (LINCL), a lysosomal storage disease. ...
http://www.ncbi.nlm.nih.gov/pubmed/9989590
www.ncbi.nlm.nih.gov
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summary
Orphanet: Ceroid lipofuscinosis, neuronal
The portal for rare diseases and orphan drugs ... Ceroid lipofuscinosis, neuronal. Orpha number. ORPHA216. Prevalence of rare diseases ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=216
www.orpha.net
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summary
Ceroid-lipofuscinosis, neuronal 5 (CLN5)
Human protein-coding gene CLN5. Represented by 272 ESTs from 154 cDNA libraries. ... Ceroid-lipofuscinosis, neuronal 5 (CLN5) SELECTED PROTEIN SIMILARITIES ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=30213
www.ncbi.nlm.nih.gov
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summary
Infantile neuronal ceroid lipfuscinosis - Wikipedia, the free encyclopedia
Infantile type of so-called neuronal ceroid-lipofuscinosis" ... Neuronal ceroid lipofuscinosis. Infantile · Jansky-Bielschowsky disease · Batten disease ...
http://en.wikipedia.org/wiki/Infantile_neuronal_ceroid_lipfuscinosis
en.wikipedia.org
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summary
Ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6)
Human protein-coding gene CLN6. Represented by 304 ESTs from 155 cDNA libraries. ... Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant, mRNA ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=584921
www.ncbi.nlm.nih.gov
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summary
Ceroid-lipofuscinosis, neuronal 8 (Cln8)
Mouse protein-coding gene Cln8. Represented by 412 ESTs from 160 cDNA libraries. ... Mus musculus ceroid-lipofuscinosis, neuronal 8, mRNA (cDNA clone MGC:13730 IMAGE: ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=254027
www.ncbi.nlm.nih.gov
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summary
Talk:Neuronal ceroid lipofuscinosis - Wikipedia, the free encyclopedia
Talk:Neuronal ceroid lipofuscinosis. From Wikipedia, the free encyclopedia ... This article is within the scope of WikiProject Medicine. ...
http://en.wikipedia.org/wiki/Talk:Neuronal_ceroid_lipofuscinosis
en.wikipedia.org
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summary
PPT1 - NextBio
PPT1: Palmitoyl-protein thioesterase (PPT) is a small glycoprotein that removes ... Mouse Phenotypes - Infantile neuronal ceroid lipofuscinosis ...
http://www.nextbio.com/b/home/home.nb?q=PPT1
www.nextbio.com
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summary
Ceroid-lipofuscinosis, neuronal 5 (Cln5)
Mouse protein-coding gene Cln5. Represented by 195 ESTs from 103 cDNA libraries. ... Mus musculus ceroid-lipofuscinosis, neuronal 5, mRNA (cDNA clone IMAGE: ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=295289
www.ncbi.nlm.nih.gov
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summary
Ceroid-lipofuscinosis, neuronal 8 (Cln8)
Norway rat protein-coding gene Cln8. Represented by 42 ESTs from 29 cDNA libraries. ... Rattus norvegicus ceroid-lipofuscinosis, neuronal 8, mRNA (cDNA clone ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=1924
www.ncbi.nlm.nih.gov
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summary
Ceroid-lipofuscinosis, neuronal 5 (Cln5)
Norway rat protein-coding gene Cln5. Represented by 25 ESTs from 22 cDNA libraries. ... PREDICTED: Rattus norvegicus ceroid-lipofuscinosis, neuronal 5 (predicted) ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=55942
www.ncbi.nlm.nih.gov
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summary
Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental ...
Human protein-coding gene CLN8. Represented by 243 ESTs from 135 cDNA libraries. ... Homo sapiens ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=127675
www.ncbi.nlm.nih.gov
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summary
Ceroid-lipofuscinosis, neuronal 3 (CLN3)
Human protein-coding gene CLN3. Represented by 620 ESTs from 251 cDNA libraries. ... Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&MAXEST=999999&CID=628393
www.ncbi.nlm.nih.gov
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summary
Neuronal ceroid-lipofuscinosis--late-infantile or Jansky-Bielschowsky ...
Neuronal ceroid-lipofuscinosis--late-infantile or Jansky-Bielschowsky type--revisited. ... idiocy" really had neuronal ceroid-lipofuscinosis of the late-infantile or ...
http://www.ncbi.nlm.nih.gov/pubmed/8864279
www.ncbi.nlm.nih.gov
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summary
Ceroid lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt ...
Mouse protein-coding gene Cln3. Represented by 148 ESTs from 72 cDNA libraries. ... human CLN (neuronal ceroid lipofuscinosis) related family member (cln-3.1) ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=268930
www.ncbi.nlm.nih.gov
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summary
Tpp1 (CLN2) - NextBio
... in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL) ... Neuronal Ceroid Lipofuscinosis. interventions: ...
http://www.nextbio.com/b/search/ov/CLN2
www.nextbio.com
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summary
Palmitoyl-protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1 ...
Chicken protein-coding gene PPT1. Represented by 49 ESTs from 28 cDNA libraries. ... protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1, infantile) G. ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Gga&CID=4593
www.ncbi.nlm.nih.gov
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summary
Neuronal ceroid-lipofuscinosis and hydrocephalus in a chihuahua.
This case was unique in having ceroid-lipofuscinosis in association with hydrocephalus. ... Ceroid-Lipofuscinoses/complications. Neuronal Ceroid-Lipofuscinoses ...
http://www.ncbi.nlm.nih.gov/pubmed/12779175?ordinalpos=81&it...
www.ncbi.nlm.nih.gov
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summary
Batten Disease - Yahoo! Health
Important It is possible that the main title of the report ... Neuronal Ceroid Lipofuscinosis, Juvenile. Spielmeyer-Sjogren Disease. Vogt-Spielmeyer Disease ...
http://health.yahoo.com/nervous-overview/batten-disease/healthwise--nord259.html
health.yahoo.com
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summary
MedlinePlus Medical Encyclopedia: Neuronal ceroid lipofuscinoses (NCLS)
Neuronal ceroid lipofuscinoses (NCLS) Contents of this page: Alternative Names ... Neuronal ceroid lipofuscinoses (NCLS) refers to a group of rare, inherited ...
http://www.nlm.nih.gov/medlineplus/ency/article/001613.htm
www.nlm.nih.gov
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summary
Neuronal Ceroid-Lipofuscinoses -- GeneReviews -- NCBI Bookshelf
Late-infantile neuronal ceroid-lipofuscinosis (LINCL) of the cLINCL, fLINCL, ... CEROID LIPOFUSCINOSIS, NEURONAL 3, JUVENILE; CLN3. 204300 ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ncl
www.ncbi.nlm.nih.gov
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summary
A variant form of neuronal ceroid lipofuscinosis in American bulldogs.
Neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative diseases ... Neuronal Ceroid-Lipofuscinoses/pathology. Neuronal Ceroid-Lipofuscinoses/veterinary ...
http://www.ncbi.nlm.nih.gov/pubmed/15715047?ordinalpos=39&it...
www.ncbi.nlm.nih.gov
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summary
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of ...
A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. ... late-onset neuronal ceroid lipofuscinosis disease, in addition to ...
http://www.ncbi.nlm.nih.gov/pubmed/15728307
www.ncbi.nlm.nih.gov
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summary
Palmitoyl-protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1 ...
Zebrafish protein-coding gene ppt1. Represented by 161 ESTs from 51 cDNA libraries. ... protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1, infantile) ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Dr&CID=80819
www.ncbi.nlm.nih.gov
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summary
Lipid thioesters derived from acylated proteins accumulate in infantile ...
... neurodegenerative disorder infantile neuronal ceroid lipofuscinosis, a disease ... lymphoblasts of patients with infantile neuronal ceroid lipofuscinosis. ...
http://www.ncbi.nlm.nih.gov/pubmed/8816748
www.ncbi.nlm.nih.gov
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summary
Retinal pathology in a canine model of late infantile neuronal ceroid ...
Retinal pathology in a canine model of late infantile neuronal ceroid lipofuscinosis. ... PURPOSE: Late infantile neuronal ceroid lipofuscinosis (NCL) is an inherited ...
http://www.ncbi.nlm.nih.gov/pubmed/18344450?ordinalpos=1&ito...
www.ncbi.nlm.nih.gov
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summary
CLN6 - Wikipedia, the free encyclopedia
"Entrez Gene: CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant" ... protein cause variant neuronal ceroid lipofuscinosis in man and mouse. ...
http://en.wikipedia.org/wiki/CLN6
en.wikipedia.org
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summary
Neuronal ceroid lipofuscinosis: clinical and morphologic findings in ...
Neuronal ceroid lipofuscinosis: clinical and morphologic ... of neuronal ceroid lipofuscinosis (NCL) in the Polish Owczarek Nizinny (PON) breed of dog. ...
http://www.ncbi.nlm.nih.gov/pubmed/17324167?ordinalpos=9&ito...
www.ncbi.nlm.nih.gov
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summary
Neuronal Ceroid-Lipofuscinoses
Late-infantile neuronal ceroid-lipofuscinosis (LINCL) of the cLINCL, fLINCL, ... Table B. OMIM Entries for Neuronal Ceroid-Lipofuscinosis. 204200 ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Neuronal Ceroid Lipofuscinoses
General diagnostic strategy in suspected cases of neuronal ceroid lipofuscinosis ... Neuronal Ceroid Lipofuscinosis, National. Institute of Health, USA. 2003. ...
http://www.orpha.net/data/patho/GB/uk-CLN.pdf
www.orpha.net
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summary
601780
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=601780
www.ncbi.nlm.nih.gov
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summary
Mutational analysis of the defective protease in classic late-infantile ...
... infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal ... infantile form of neuronal ceroid lipofuscinosis (LINCL) is a progressive and ...
http://www.ncbi.nlm.nih.gov/pubmed/10330339
www.ncbi.nlm.nih.gov
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summary
Lipofuscin - Wikipedia, the free encyclopedia
... lipofuscinoses, e.g., neuronal ceroid lipofuscinosis, also known as Batten ... Terman, A, Brunk, UT (1998) "Ceroid/lipofuscin formation in cultured human ...
http://en.wikipedia.org/wiki/Lipofuscin
en.wikipedia.org
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Mutations in the palmitoyl protein thioesterase gene causing infantile ...
... protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. ... Neuronal ceroid lipofuscinoses (NCL) represent a group of common progressive ...
http://www.ncbi.nlm.nih.gov/pubmed/7637805
www.ncbi.nlm.nih.gov
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summary
204200
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=204200
www.ncbi.nlm.nih.gov
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summary
256730
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256730
www.ncbi.nlm.nih.gov
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summary
CLN8 - Wikipedia, the free encyclopedia
Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) ... The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the ...
http://en.wikipedia.org/wiki/CLN8
en.wikipedia.org
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summary
Batten's disease: clues to neuronal protein catabolism in lysosomes.
Neuronal ceroid lipofuscinosis (Batten disease) encompasses a group of 8 or more ... Neuronal Ceroid-Lipofuscinoses/genetics* Neuronal Ceroid-Lipofuscinoses ...
http://www.ncbi.nlm.nih.gov/pubmed/10740217
www.ncbi.nlm.nih.gov
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204500
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=204500
www.ncbi.nlm.nih.gov
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summary
256731
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=256731
www.ncbi.nlm.nih.gov
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summary
600143
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600143
www.ncbi.nlm.nih.gov
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summary
Assessment of retinal function and characterization of lysosomal ...
... old Tibetan Terriers with ceroid-lipofuscinosis and 1 healthy 5-year ... to identify behavioral and physical signs indicative of ceroid-lipofuscinosis. ...
http://www.ncbi.nlm.nih.gov/pubmed/15691038?ordinalpos=23&it...
www.ncbi.nlm.nih.gov
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Tripeptidyl peptidase I - Wikipedia, the free encyclopedia
... protein with classical late-infantile neuronal ceroid lipofuscinosis. ... Heterogeneity of late-infantile neuronal ceroid lipofuscinosis.". Genet. Med. ...
http://en.wikipedia.org/wiki/Tripeptidyl_peptidase_I
en.wikipedia.org
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PubMed Link Image
Storage of saposins A and D in infantile neuronal ceroid-lipofuscinosis. ... have been found to be stored in any form of neuronal ceroid-lipofuscinosis. ...
http://www.ncbi.nlm.nih.gov/pubmed/8370464
www.ncbi.nlm.nih.gov
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summary
Ceroid-lipofuscinosis, neuronal 3 (Cln3)
Norway rat protein-coding gene Cln3. Represented by 41 ESTs from 26 cDNA libraries. ... Rattus norvegicus ceroid lipofuscinosis, neuronal 3, juvenile (Batten, ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=102386
www.ncbi.nlm.nih.gov
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AceView: gene:CLN3, a comprehensive annotation of human, mouse and worm ...
AceView offers a comprehensive annotation of human, mouse and nematode genes ... It has been described as ceroid-lipofuscinosis, neuronal 3, battenin. ...
http://www.ncbi.nlm.nih.gov/IEB/Research/Acembly/av.cgi?db=human&term=CLN3
www.ncbi.nlm.nih.gov
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204300
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=204300
www.ncbi.nlm.nih.gov
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summary
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