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Characterizing intersecting social determinants of health during pregnancy: a descriptive cross-sectional analysis from a northern New England health system. [PDF]
Front Med (Lausanne)Dev A +5 more
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Stem cell and gene therapies for leukodystrophies. [PDF]
Mol Ther Methods Clin DevLin W, Zhang M, Zheng S, Lian Q.
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Hypertensive Disorders of Pregnancy and Breastfeeding Among US Women.
JAMA Netw OpenNardella D +3 more
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Loneliness and mental wellbeing in people with inherited macular disease
Crossland MD +5 more
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1989
Canavan’s disease (CD) is a rare hereditary neurological disorder affecting children. The disease is also called spongy degeneration of the CNS of the van Bogaert-Bertrand type. Similar to Tay-Sachs disease and Niemann-Pick disease, CD is most frequently found in children of Jewish Ashkenazi origin. An autosomal recessive mode of inheritance is evident:
Jacob Valk, Marjo S. van der Knaap
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Canavan’s disease (CD) is a rare hereditary neurological disorder affecting children. The disease is also called spongy degeneration of the CNS of the van Bogaert-Bertrand type. Similar to Tay-Sachs disease and Niemann-Pick disease, CD is most frequently found in children of Jewish Ashkenazi origin. An autosomal recessive mode of inheritance is evident:
Jacob Valk, Marjo S. van der Knaap
openaire +1 more source
Prenatal diagnosis of canavan disease
Journal of Inherited Metabolic Disease, 1992Spongy degeneration of the brain, Canavan disease (CD; McKusick 271900), is an autosomal recessive disorder prevalent among Ashkenazi Jews. The disease is a leukodystrophy manifested by macrocephaly, mental retardation and early death (Canavan 1931; van Bogaert and Bertrand 1967).
R, Matalon +3 more
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Radiology, 2006
A 21-month-old boy, born without complications after an uncomplicated pregnancy, failed to achieve expected developmental milestones. As an infant, he developed nystagmus and poor muscular head control. Physical examination findings were notable for generalized hypotonia and macrocephaly. Magnetic resonance (MR) imaging and single-voxel MR spectroscopy
Steven J, Michel, Curtis A, Given
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A 21-month-old boy, born without complications after an uncomplicated pregnancy, failed to achieve expected developmental milestones. As an infant, he developed nystagmus and poor muscular head control. Physical examination findings were notable for generalized hypotonia and macrocephaly. Magnetic resonance (MR) imaging and single-voxel MR spectroscopy
Steven J, Michel, Curtis A, Given
openaire +2 more sources
Restricted diffusion in Canavan disease
Child's Nervous System, 2007Canavan disease is a megalencephalic leukodystrophy due to deficiency of the enzyme aspartoacylase. Proton MR spectroscopy finding of elevated N-acetyl-L: -aspartate is considered diagnostic of Canavan disease.We report a case of Canavan disease, which showed restricted diffusion in diffusion-weighted imaging and discuss the cause of it.
S G, Srikanth +3 more
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Molecular basis of Canavan disease
European Journal of Paediatric Neurology, 1998Canavan disease is a neurodegenerative disorder characterized by spongy degeneration of the white matter of the brain. The brain pathology of the disease was described by Canavan in 1931 in a child thought to have Schilder’s disease.’ In 1949, van Bogaert and Bertrand in their report of three children of Jewish extraction with Canavan disease ...
R, Matalon, K, Michals-Matalon
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Radiology
History A 10-month-old female infant, who was second-born, was referred for progressive macrocephaly, axial hypotonia, developmental delay, and limb stiffness. Birth had occurred at 41 weeks, after an uneventful pregnancy and delivery, to nonconsanguineous parents. Noticeably, the child could not hold her head up at 4 months or sit at 10 months of age.
Grammatina Boitsios +2 more
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History A 10-month-old female infant, who was second-born, was referred for progressive macrocephaly, axial hypotonia, developmental delay, and limb stiffness. Birth had occurred at 41 weeks, after an uneventful pregnancy and delivery, to nonconsanguineous parents. Noticeably, the child could not hold her head up at 4 months or sit at 10 months of age.
Grammatina Boitsios +2 more
openaire +2 more sources