UNASSIGNED
To report atypical presentation of neuronal ceroid lipofuscinoses type 8 (CLN8) to the eye clinic and review clinical features of CLN8.
UNASSIGNED
Detailed eye exam by slit lamp exam, indirect ophthalmoscopy, fundus photography, optical coherence tomography, visual fields and
Late infantile neuronal ceroid lipofuscinosis (LINCL), a pediatric autosomal recessive neurodegenerative lysosomal storage disorder, results from mutations in the CLN2 gene and consequent deficiency in tripeptidyl-peptidase I (TPP-I) and progressive destruction of neurons. We have previously
Late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal, lysosomal storage disorder caused by mutations in the CLN2 gene, results in a deficiency of tripeptidyl-peptidase I (TPP-I) activity in neurons. Our prior studies showed that delivery of the human CLN2 cDNA directly to the CNS, using an
We report a child with Hermansky-Pudlak Syndrome (HPS) and chronic kidney disease (stage II) with histological diagnosis of focal segmental glomerulosclerosis (FSGS). A 15-year-old male of Puerto Rico ancestry with history of HPS, hypertension (HTN), asthma, obesity, and chronic kidney disease (CKD)
UNASSIGNED
Mutations in genes traditionally associated with syndromic retinal disease are increasingly found to cause nonsyndromic inherited retinal degenerations. Mutations in CLN3 are classically associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease with early
Tricresyl phosphate is an organophosphate plasticizer widely used in vinyl plastics and as a fire retardant additive for hydraulic fluids. Toxicology and carcinogenesis studies were conducted by administering a mixed isomer preparation of 79% tricresyl phosphate esters (consisting of 21% tri-
The most complete medicinal herbs database backed by science
Works in 55 languages
Herbal cures backed by science
Herbs recognition by image
Interactive GPS map - tag herbs on location (coming soon)
Read scientific publications related to your search
Search medicinal herbs by their effects
Organize your interests and stay up do date with the news research, clinical trials and patents
Type a symptom or a disease and read about herbs that might help, type a herb and see diseases and symptoms it is used against. *All information is based on published scientific research