Results 21 to 30 of about 8,846 (292)

Infliximab treatment of glycogenosis Ib with Crohn's-like enterocolitis: A case report

open access: diamondWorld Journal of Clinical Cases, 2021
BACKGROUND Glycogen storage disease type Ib (GSD-Ib) is a glycogen metabolism disorder that leads to the manifestations of inflammatory bowel disease (IBD), especially Crohn’s disease (CD)-like colitis.
You-Zhe Gong, Xuemei Zhong, Jizhen Zou
openalex   +2 more sources

Hepatic Glycogenosis: An Underdiagnosed Entity?

open access: yesCureus, 2022
Hepatic glycogenosis (HG) is a rare complication of long-standing poorly controlled type 1 diabetes mellitus (T1DM), which is often misdiagnosed as non-alcoholic fatty liver disease (NAFLD).
Sofia Garcês Soares   +5 more
semanticscholar   +1 more source

Neonatal interstitial lung disease in a girl with Jacobsen syndrome: a case report

open access: yesJournal of Medical Case Reports, 2022
Background We report a case of the neonatal interstitial lung disease pulmonary interstitial glycogenosis in a girl with Jacobsen syndrome. While Jacobsen syndrome is caused by a deletion on the long arm of chromosome 11 and is genetically confirmed ...
Marit Lunde Dalen   +4 more
doaj   +1 more source

Diagnosis of hepatic glycogenosis in poorly controlled type 1 diabetes mellitus

open access: hybridWorld Journal of Diabetes, 2014
Hepatic glycogenosis (HG) in type 1 diabetes is a underrecognized complication. Mauriac firstly described the syndrome characterized by hepatomegaly with altered liver enzymes, growth impairment, delay puberty and Cushingoid features, during childhood ...
Stefania Giordano
openalex   +2 more sources

Total hepatectomy and liver transplant for hepatocellular adenomatosis and focal nodular hyperplasia. [PDF]

open access: yes, 1992
Extensive hepatocellular adenomatosis (HA) and focal nodular hyperplasia (FNH) represent a proliferation of hepatic cells that occurs most frequently in women.
Bronsther, O   +4 more
core   +4 more sources

Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.

open access: yesJournal of the American College of Cardiology, 2020
BACKGROUND PRKAG2 gene variants cause a syndrome characterized by cardiomyopathy, conduction disease, and ventricular pre-excitation. Only a small number of cases have been reported to date, and the natural history of the disease is poorly understood ...
Á. López-Sainz   +44 more
semanticscholar   +1 more source

Persistent Asymptomatic Severe Hypoglycaemia Due to Type 0A Glycogenosis - General and Oro-Dental Aspects

open access: greenActa Endocrinologica, 2019
Background Type 0 glycogenosis is a genetic metabolic disorder characterized by the absence of glycogen synthesis of hepatic synthase and hence of liver glycogen stores in normal amounts. It is an extremely rare condition.
Loredana Matei
openalex   +3 more sources

Male inheritance of X-linked liver glycogenosis from an undiagnosed maternal grandfather in a Chinese pedigree: a report of two cases

open access: yes, 2021
Hepatic phosphorylase kinase (PhK) plays an important role in glycogen metabolism by activating phosphorylase. Patients with PhK deficiency may get glycogen storage disease (GSD) type-IXa, an X-linked liver glycogenosis disease.
Ping Li   +6 more
semanticscholar   +1 more source

Glycogenosis is common in nonalcoholic fatty liver disease and is independently associated with ballooning, but lower steatosis and lower fibrosis

open access: yesLiver international (Print), 2020
Glycogen synthesis and storage are normal hepatocyte functions. However, glycogenosis, defined as excess hepatocyte glycogen visible by routine H&E light microscopy, has not been well characterized in nonalcoholic fatty liver disease (NAFLD).
D. Allende   +12 more
semanticscholar   +1 more source

Glycogen storage disease in a young cat with heart failure

open access: yesJournal of Veterinary Internal Medicine, 2022
An 8‐month‐old domestic short‐haired female cat presented with acute tachypnea, poor growth, hypothermia, and lethargy. Thoracic radiography showed cardiomegaly with mild pleural effusion, and transthoracic echocardiography identified dilatation of both ...
Shigeki Tanaka   +5 more
doaj   +1 more source

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