lipofuscinosis

(redirected from ceroid lipofuscinosis)
Also found in: Medical.
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.
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.
A postmortem diagnosis of neuronal ceroid lipofuscinosis (NCL) was made based on the presence of neuronal granular cytoplasmic material that was autofluorescent and stained with periodic acid Schiff and Luxol fast blue.
The data were derived from postmortem examinations of three patients in the company's Phase I clinical trial of HuCNS-SC cells in neuronal ceroid lipofuscinosis (NCL, also referred to as Batten disease), a rare and fatal neurode-generative disorder in children.
It is the most common form of a group of disorders called neuronal ceroid lipofuscinosis (or NCLs).
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.