Results 221 to 230 of about 8,846 (292)
Some of the next articles are maybe not open access.
Clinical Nutrition ESPEN
BACKGROUND & AIMS Glycogenosis type III is a rare autosomal recessive disease caused by a mutation in the AGL gene that results in a deficiency of the glycogen debranching enzyme. This deficiency impairs fasting tolerance and leads to hypoglycemia. While
J. Bonnet +7 more
semanticscholar +1 more source
BACKGROUND & AIMS Glycogenosis type III is a rare autosomal recessive disease caused by a mutation in the AGL gene that results in a deficiency of the glycogen debranching enzyme. This deficiency impairs fasting tolerance and leads to hypoglycemia. While
J. Bonnet +7 more
semanticscholar +1 more source
Pediatric Pulmonology, 2019
Pulmonary interstitial glycogenosis (PIG) is a rare infant interstitial lung disease characterized by an increase in the number of interstitial mesenchymal cells, presenting as enhanced cytoplasmic glycogen, and is considered to represent the expression ...
O. Sardón +15 more
semanticscholar +1 more source
Pulmonary interstitial glycogenosis (PIG) is a rare infant interstitial lung disease characterized by an increase in the number of interstitial mesenchymal cells, presenting as enhanced cytoplasmic glycogen, and is considered to represent the expression ...
O. Sardón +15 more
semanticscholar +1 more source
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 ...
openaire +2 more sources
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 ...
openaire +2 more sources
Focal hepatic glycogenosis associated with metastatic insulinoma presenting as mass lesions
Pathology Research and Practice, 2016Monika Vyas +2 more
exaly +2 more sources
Diagnostic and clinical course of pulmonary interstitial glycogenosis: The tip of the iceberg
Pediatric Pulmonology, 2018“Pulmonary Interstitial Glycogenosis: Diagnostic Evaluation and Clinical Course,” written by Liptzin et al is a timely and insightful phenotypic summary of a rare pediatric interstitial lung disease.
L. Yonker, T. B. Kinane
semanticscholar +1 more source
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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 ...
openaire +1 more source
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 ...
openaire +1 more source