lipofuscinosis


Also found in: Medical, Wikipedia.
Translations

lip·o·fus·ci·no·sis

n. lipofuscinosis, almacenamiento anormal de cualquiera de los pigmentos adiposos.
References in periodicals archive ?
A fatal lysosomal storage disease of the nervous system caused by autosomal-recessive mutations in the CLN1 gene, also known as infantile neuronal ceroid lipofuscinosis, CLN1 disease is an inherited genetic disease that primarily affects the nervous system in newborns and progresses rapidly.
M2 PHARMA-March 2, 2018-EMA Grants Polaryx Therapeutics Orphan Drug Designation for PLX-200 for Treatment of Neuronal Ceroid Lipofuscinosis
A fatal lysosomal storage disease of the nervous system caused by autosomal-recessive mutations in the CLN1 gene, also known as infantile neuronal ceroid lipofuscinosis (INCL), infantile Batten disease is an inherited fatal genetic disease that primarily affects the nervous system in newborns and progresses rapidly.
About Infantile Batten Disease: Infantile neuronal ceroid lipofuscinosis (INCL) is a severe lysosomal disease caused by mutations in the CLN1 gene, which encodes the soluble lysosomal enzyme Palmitoyl-Protein-Thioesterase-1 (PPT1) and result in osmiophilic granules accumulating in lysosomes and leading to neuroinflammation, neurodegeneration and death.
In April 2017, the company received the second voucher following approval of Brineura, a new biological product for patients with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase 1 (TPP1) deficiency, a form of Batten disease.
Brineura is the first FDA-approved treatment to slow loss of walking ability in symptomatic pediatric patients 3 years of age and older with late infantile neuronal ceroid lipofuscinosis type 2 (CLN2), also known as tripeptidyl peptidase-1 (TPP1) deficiency.
Final diagnoses were lung metastasis of a cortical-type thymoma, atherosclerosis stage IV, lipofuscinosis of brain neurons, and adrenal interrenal cell degeneration.
Because melanosis coli is not due to melanin pigmentation, the names pseudomelanosis coli or lipofuscinosis coli have been suggested.
99] showed that the lack of CLN3 function leads to a failure to control the response to oxidative stress and this causes juvenile neuronal ceroid lipofuscinosis (also known as Batten disease), a disease characterized by neuronal degeneration.
Non-invasive assessment of retinal alterations in mouse models of infantile and juvenile neuronal ceroid lipofuscinosis by spectral domain optical coherence tomography.
Introduccion: Las lipofuscinosis neuronales ceroideas (LNC) son enfermedades poco frecuentes, ubicadas dentro de las epilepsias mioclonicas progresivas.