نتایج جستجو برای: canavan disease

تعداد نتایج: 1490117  

Journal: :The Journal of molecular diagnostics : JMD 2009
Lisa Kalman Jean Amos Wilson Arlene Buller John Dixon Lisa Edelmann Louis Geller William Edward Highsmith Leonard Holtegaard Ruth Kornreich Elizabeth M Rohlfs Toby L Payeur Tina Sellers Lorraine Toji Kasinathan Muralidharan

Many recessive genetic disorders are found at a higher incidence in people of Ashkenazi Jewish (AJ) descent than in the general population. The American College of Medical Genetics and the American College of Obstetricians and Gynecologists have recommended that individuals of AJ descent undergo carrier screening for Tay Sachs disease, Canavan disease, familial dysautonomia, mucolipidosis IV, N...

Journal: :Journal of chemical theory and computation 2016
Daniel Reta Ibério de P R Moreira Francesc Illas

In the most general case of three electrons in three symmetry unrelated centers with Ŝ1 = Ŝ2 = Ŝ3 = 1/2 localized magnetic moments, the low energy spectrum consists of one quartet (Q) and two doublet (D1, D2) pure spin states. The energy splitting between these spin states can be described with the well-known Heisenberg-Dirac-Van Vleck (HDVV) model spin Hamiltonian, and their corresponding ener...

Journal: :Journal of colloid and interface science 2004
Jonas Ortegren Klaus-Dieter Wantke Hubert Motschmann Helmuth Möhwald

The dilatational properties of fluid surfaces and interfaces have been comprehensively investigated in recent years. For example, an improved oscillating bubble device provided experimental results that allow for critical testing of established surface models, such as the Lucassen/van den Tempel (LvdT) model. The comparison of the LvdT model with the oscillating bubble experiments demonstrates ...

Journal: :Science translational medicine 2012
Paola Leone David Shera Scott W J McPhee Jeremy S Francis Edwin H Kolodny Larissa T Bilaniuk Dah-Jyuu Wang Mitra Assadi Olga Goldfarb H Warren Goldman Andrew Freese Deborah Young Matthew J During R Jude Samulski Christopher G Janson

Canavan disease is a hereditary leukodystrophy caused by mutations in the aspartoacylase gene (ASPA), leading to loss of enzyme activity and increased concentrations of the substrate N-acetyl-aspartate (NAA) in the brain. Accumulation of NAA results in spongiform degeneration of white matter and severe impairment of psychomotor development. The goal of this prospective cohort study was to asses...

Journal: :Proceedings of the National Academy of Sciences 2006

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