Results 151 to 160 of about 3,882 (211)
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Journal of Inherited Metabolic Disease, 1990
SummaryThis review describes clinical, biochemical and genetic features of the four inborn errors affecting muscle glycogen breakdown, namely deficiencies of phosphorylase, phosphorylase kinase, amylo‐1,6‐glucosidase and acid α‐glucosidase. They are characterized by a wide spectrum of clinical manifestation, affecting age of onset, clinical features ...
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SummaryThis review describes clinical, biochemical and genetic features of the four inborn errors affecting muscle glycogen breakdown, namely deficiencies of phosphorylase, phosphorylase kinase, amylo‐1,6‐glucosidase and acid α‐glucosidase. They are characterized by a wide spectrum of clinical manifestation, affecting age of onset, clinical features ...
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Hepatorenal glycogenosis (type I glycogenosis) and carcinoma of the liver
The Journal of Pediatrics, 1969The second reported example of malignant hepatoma developing in a patient with type I glycogen storage disease is presented. Details of the clinical course and of the ultrastructural and biochemical characteristics of the tumor are described.
F, Zangeneh +6 more
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International Journal of Oncology, 1997
Foci of altered hepatocytes (FAH) including clear cell foci excessively storing glycogen (focal hepatic glycogenosis) are well known as preneoplastic lesions in animal models of hepatocarcinogenesis induced by chemical, physical or viral agents. The occurrence of similar lesions has been studied in a series of 67 explanted and 2 resected human livers ...
P, Bannasch +6 more
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Foci of altered hepatocytes (FAH) including clear cell foci excessively storing glycogen (focal hepatic glycogenosis) are well known as preneoplastic lesions in animal models of hepatocarcinogenesis induced by chemical, physical or viral agents. The occurrence of similar lesions has been studied in a series of 67 explanted and 2 resected human livers ...
P, Bannasch +6 more
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The Indian Journal of Pediatrics, 1997
Type Ib glycogenosis is a rare glycogen storage disorder resulting from a defect in the enzyme, glucose-6-phosphatase microsomal translocase. We report a case of Type Ib glycogenosis in an 18 month-old male child who presented with a history of hypoglycemic seizures and recurrent infections and had a massive hepatomegaly, recurrent hypoglycemia ...
R, Christopher, K T, Shetty
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Type Ib glycogenosis is a rare glycogen storage disorder resulting from a defect in the enzyme, glucose-6-phosphatase microsomal translocase. We report a case of Type Ib glycogenosis in an 18 month-old male child who presented with a history of hypoglycemic seizures and recurrent infections and had a massive hepatomegaly, recurrent hypoglycemia ...
R, Christopher, K T, Shetty
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Pulmonary interstitial glycogenosis
Pediatric Radiology, 2009Although bronchopulmonary dysplasia (BPD) is a common cause of interstitial lung disease in chronically intubated premature neonates, other interstitial lung disease in nonintubated infants is rare. We present a case of pulmonary interstitial glycogenosis that developed in a nonintubated, 31-week gestation infant in whom infectious etiologies had been ...
Michael, Lanfranchi +3 more
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Acta Paediatrica, 1938
SUMMARYDescription of a case of glycogenosis in a boy barely one year old. The signs characteristic of this disease, especially enlargement of the liver and disturbance of carbohydrate metabolism, were present to a striking degree. In addition to the usual examinations in cases of glycogenosis liver puncture was done and provided valuable information ...
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SUMMARYDescription of a case of glycogenosis in a boy barely one year old. The signs characteristic of this disease, especially enlargement of the liver and disturbance of carbohydrate metabolism, were present to a striking degree. In addition to the usual examinations in cases of glycogenosis liver puncture was done and provided valuable information ...
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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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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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