Peripheral and autonomic nervous system involvement in chronic GM2-gangliosidosis.

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Published in J Inherit Metab Dis on February 01, 2001

Authors

M S Salman1, J T Clarke, G Midroni, M B Waxman

Author Affiliations

1: Division of Neurology, University of Toronto and Hospital for Sick Children, ON, Canada. Michael.Salman@sickkids.on.ca

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Involvement of triacylglycerol in the metabolism of fatty acids by cultured neuroblastoma and glioma cells. J Lipid Res (1982) 0.80

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Prepaid entitlements. A new challenge for physician-patient relationships. JAMA (1985) 0.80

Early infantile variant of Krabbe globoid cell leucodystrophy with lung involvement. Arch Dis Child (1981) 0.80

Effects of respiration and posture on paroxysmal supraventricular tachycardia. Circulation (1980) 0.80

Organic acidurias and related abnormalities. Crit Rev Clin Lab Sci (1995) 0.80

Cannon waves with A-V association. Am Heart J (1976) 0.79

IGIV in neurology--evidence and recommendations. Can J Neurol Sci (1999) 0.79