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10.1007/s40477-014-0108-3

http://scihub22266oqcxt.onion/10.1007/s40477-014-0108-3
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C4142129!4142129!25177395
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suck abstract from ncbi


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pmid25177395      J+Ultrasound 2014 ; 17 (3): 215-7
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  • Brain ultrasound in Canavan disease #MMPMID25177395
  • Drera B; Poggiani C
  • J Ultrasound 2014[Sep]; 17 (3): 215-7 PMID25177395show ga
  • Canavan disease (MIM 271900) is a rare autosomal recessive leukodystrophy due to mutations in the ASPA gene (MIM 608034) and characterized by a clinical onset at 3?5 months of life, macrocephaly and poor head control, weak cry and suck, development regression and hypotonia. Here, we report cranial ultrasound findings at birth and at 4 months of age in a patient affected with Canavan disease. The comparison of our sonographic data with few other cases in literature allows us to suggest a characteristic pattern in Canavan disease.
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