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Published on BioPortfolio: 2015-03-25T05:24:43-0400
The proposed clinical trial is the first human, open-label, single dose study of self-complementary AAV9 carrying the CLN6 gene delivered one-time intrathecally inserted by a lumbar punctu...
Nasal obstruction is a common complaint for the patient presenting to the Otolaryngologist and/or the Facial Plastic surgeon. There are numerous potential causes of nasal obstruction, with...
Background: CLN3, or Batten disease, is a genetic disorder. This deadly disease leads to decline of brain and nervous system functions. Symptoms of CLN3 typically occur between 4 and 7 ye...
The aim of this study is to treat the signs and symptoms of late infantile neuronal ceroid lipofuscinosis (LINCL), a fatal inherited disease in the brain. This will be accomplished by usin...
In a separate protocol the Department of Genetic Medicine is proposing to carry out a study using gene transfer to treat the central nervous system (CNS) manifestations of late infantile n...
CLN3-Batten disease is a rare, autosomal recessive disorder involving seizures, visual, motor and cognitive decline, and premature death. The Cln3Δex7/8 mouse model recapitulates several phenotypic c...
We have identified a natural Japanese macaque model of the childhood neurodegenerative disorder neuronal ceroid lipofuscinosis, commonly known as Batten Disease, caused by a homozygous frameshift muta...
A new tandem mass spectrometry (MS/MS)-based approach for measurement of the enzymatic activity of palmitoyl protein thioesterase I (PPT1) in dried blood spots (DBS) is presented. Deficiency in this e...
Behçet's disease is a multi-system disease with inflammatory infestations, in particular of the small and middle arteries and veins. Histologically, the disease presents with the image of leukocytocl...
Huntington's disease is a rare, neurodegenerative disease caused by an expanded CAG repeat mutation in the huntingtin gene. Compared with adult-onset Huntington's disease, juvenile Huntington's diseas...
Animate or inanimate sources which normally harbor disease-causing organisms and thus serve as potential sources of disease outbreaks. Reservoirs are distinguished from vectors (DISEASE VECTORS) and carriers, which are agents of disease transmission rather than continuing sources of potential disease outbreaks.
Analyses for a specific enzyme activity, or of the level of a specific enzyme that is used to assess health and disease risk, for early detection of disease or disease prediction, diagnosis, and change in disease status.
The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.
Immune-mediated inflammation of the PITUITARY GLAND often associated with other autoimmune diseases (e.g., HASHIMOTO DISEASE; GRAVES DISEASE; and ADDISON DISEASE).
An infectious disease caused by a spirochete, BORRELIA BURGDORFERI, which is transmitted chiefly by Ixodes dammini (see IXODES) and pacificus ticks in the United States and Ixodes ricinis (see IXODES) in Europe. It is a disease with early and late cutaneous manifestations plus involvement of the nervous system, heart, eye, and joints in variable combinations. The disease was formerly known as Lyme arthritis and first discovered at Old Lyme, Connecticut.