Results 121 to 130 of about 2,165 (162)

Canavan Disease: A Novel Mutation

Pediatric Neurology, 2011
Canavan disease, an autosomal recessive inherited leukodystrophy caused by an aspartoacylase deficiency, is common among children of Ashkenazi Jewish descent. We report on a non-Jewish female infant who presented at age 6 months with progressive macrocephaly and developmental delay.
Harald, Schober, Juerg, Luetschg, Isabella, Hoeliner, Stefanie, Kalb, Burkhard, Simma   +4 more
openaire   +2 more sources

Biochemical diagnosis of Canavan disease

Child's Nervous System, 1992
Canavan disease (CD) is a rare autosomal recessive disorder characterized by macrocephaly and progressive leukodystrophy. Up to now biopsy or necropsy were required to define the diagnosis. Recently the disease has been related to N-acetylaspartic aciduria and deficiency of aspartoacylase, an enzyme possibly involved in the myelin synthesis.
G, Bartalini, M, Margollicci, P, Balestri, M A, Farnetani, M, Cioni, A, Fois   +5 more
openaire   +2 more sources

Recent Advances in Canavan Disease

Advances in Pediatrics, 1999
More studies are needed to elucidate the pathophysiology of Canavan disease and how the inability to hydrolyze NAA leads to spongy degeneration. The creation of an animal model would be helpful in the understanding of the disease and the formulation of gene therapy.
R, Matalon, K, Michals-Matalon
openaire   +2 more sources

Lithium Citrate for Canavan Disease

Pediatric Neurology, 2005
Current evidence suggests that the effects of lithium on metabolic and signaling pathways in the brain may vary depending on the specific clinical condition or disease model. For example, lithium increases levels of cerebral N-acetyl aspartate in patients with bipolar disorder but does not appear to affect N-acetyl aspartate levels in normal human ...
Christopher G, Janson, Mitra, Assadi, Jeremy, Francis, Larissa, Bilaniuk, David, Shera, Paola, Leone   +5 more
openaire   +2 more sources

Preimplantation Genetic Diagnosis of Canavan Disease

Fetal Diagnosis and Therapy, 2005
<i>Objective:</i> Canavan disease is an autosomal recessive disorder which is relatively common in Ashkenazi Jews. It is characterized by developmental delay, severe hypotonia and early death, and is caused by a deficiency of aspartoacylase which is encoded by the <i>ASPA </i>gene.
Yuval, Yaron, Tamar, Schwartz, Nava, Mey-Raz, Ami, Amit, Joseph B, Lessing, Mira, Malcov   +5 more
openaire   +2 more sources

Canavan Disease

Obstetrics and Gynecology Clinics of North America, 2002
Reuben Matalon, Kimberlee Michals Matalon   +1 more
openaire   +1 more source

Integrative oncology: Addressing the global challenges of cancer prevention and treatment

Ca-A Cancer Journal for Clinicians, 2022
Jun J Mao,, Msce, Lorenzo Cohen, Karen M Mustian   +2 more
exaly  

Canavan disease

Molecular and Chemical Neuropathology, 1996
openaire   +1 more source

Cholelithiasis in Canavan disease

Journal of Ultrasound in Medicine, 1993
M, Bakon, S, Strauss, I, Shental, O N, Elpeleg   +3 more
openaire   +2 more sources

Canavan Disease

2016
openaire   +2 more sources