Results 231 to 240 of about 8,846 (292)
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Journal of Neuropathology and Experimental Neurology, 1984
Glycogenosis Type VIII, characterized ultrastructurally by an accumulation of rosettes (alpha-particles) of glycogen in the central nervous system, is an extremely rare condition; only two sporadic cases are on record. The first complete autopsy on a patient with cerebral alpha-particle glycogenosis, a 20-year-old American-Indian female, is the subject
M, Kornfeld, M, LeBaron
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Glycogenosis Type VIII, characterized ultrastructurally by an accumulation of rosettes (alpha-particles) of glycogen in the central nervous system, is an extremely rare condition; only two sporadic cases are on record. The first complete autopsy on a patient with cerebral alpha-particle glycogenosis, a 20-year-old American-Indian female, is the subject
M, Kornfeld, M, LeBaron
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2010
This lysosomal glycogen storage disease is autosomal recessively inherited and also termed acid maltase deficiency or Pompe’s disease. In all other types of glycogenoses, glycogen deposits are cytosolic (cf. Fig. 70 and 153). The intralysosomal glycogen storage results from defective lysosomal acid α-glucosidase activity whose gene has been mapped to ...
Margit Pavelka, Jürgen Roth
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This lysosomal glycogen storage disease is autosomal recessively inherited and also termed acid maltase deficiency or Pompe’s disease. In all other types of glycogenoses, glycogen deposits are cytosolic (cf. Fig. 70 and 153). The intralysosomal glycogen storage results from defective lysosomal acid α-glucosidase activity whose gene has been mapped to ...
Margit Pavelka, Jürgen Roth
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Pulmonary interstitial glycogenosis after the first year
Pediatric Pulmonology, 2021D. Liptzin +5 more
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The American Journal of Cardiology, 1961
H, STOECKLE, A S, GOLDMAN, J A, WEBB
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H, STOECKLE, A S, GOLDMAN, J A, WEBB
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Pulmonary interstitial glycogenosis associated with a spectrum of neonatal pulmonary disorders.
Human Pathology, 2017E. Cutz +4 more
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