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infantile neuronal 1 Ceroid lipofuscinosis
Also Known As:
Ceroid lipofuscinosis, neuronal 1, infantile; Neuronal ceroid lipofuscinosis, infantile Finnish type; Santavuori disease
Networked:
2
relevant articles (
0
outcomes,
0
trials/studies)
Disease Context: Research Results
Nervous System Diseases: 14178
Neurodegenerative Diseases: 42472
Nervous System Heredodegenerative Disorders: 63
Neuronal Ceroid-Lipofuscinoses: 1138
infantile neuronal 1 Ceroid lipofuscinosis: 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
Inborn Genetic Diseases: 11939
Inborn Errors Metabolism: 1162
Inborn Errors Lipid Metabolism
Lipidoses: 669
Neuronal Ceroid-Lipofuscinoses: 1138
infantile neuronal 1 Ceroid lipofuscinosis: 2
Nervous System Heredodegenerative Disorders: 63
Neuronal Ceroid-Lipofuscinoses: 1138
infantile neuronal 1 Ceroid lipofuscinosis: 2
Nutritional and Metabolic Diseases: 15
Metabolic Diseases: 10142
Inborn Errors Metabolism: 1162
Inborn Errors Lipid Metabolism
Lipidoses: 669
Neuronal Ceroid-Lipofuscinoses: 1138
infantile neuronal 1 Ceroid lipofuscinosis: 2
Lipid Metabolism Disorders: 898
Inborn Errors Lipid Metabolism
Lipidoses: 669
Neuronal Ceroid-Lipofuscinoses: 1138
infantile neuronal 1 Ceroid lipofuscinosis: 2
Related Diseases
1.
Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
Experts
1.
Miller, Jake N
: 1 article (09/2013)
2.
Pearce, David A
: 1 article (09/2013)
Drugs and Biologics
Drugs and Important Biological Agents (IBA) related to infantile neuronal 1 Ceroid lipofuscinosis:
1.
palmitoyl-protein thioesterase
IBA
09/01/2013 - "
Patients with mutations in CLN1, which encodes palmitoyl-protein thioesterase 1 (PPT1), primarily manifest with infantile neuronal ceroid lipofuscinosis (Haltia-Santavuori disease).
"
01/01/1999 - "
Mutations in the gene encoding a lysosomal enzyme, palmitoyl protein thioesterase (PPT), cause infantile NCL (locus CLN1 on chromosome 1p32) or Haltia-Santavuori disease.
"
2.
Enzymes
IBA
01/01/1999 - "
Mutations in the gene encoding a lysosomal enzyme, palmitoyl protein thioesterase (PPT), cause infantile NCL (locus CLN1 on chromosome 1p32) or Haltia-Santavuori disease.
"