Results 11 to 20 of about 615,949 (181)
Hepatic Glycogenosis in an Adolescent with Diabetes [PDF]
The Journal of Pediatrics, 2010 Hepatic glycogenosis in an adolescent with ...
Bua J +4 more
semanticscholar +9 more sources
Ketosis in Hepatic Glycogenosis [PDF]
Archives of Disease in Childhood, 1972 The occurrence of ketosis in 41 patients with liver glycogenosis and a control group of 22 children was investigated. Fasting ketosis was present in children with a deficiency of the debranching enzyme system and in young children with a deficiency of the phosphorylase system, but never in patients with a glucose-6-phosphatase deficiency.
J, Fernandes, N A, Pikaar
semanticscholar +5 more sources
Hepatic glycogenosis: a diagnostic challenge [PDF]
Revista Española de Enfermedades Digestivas, 2017 Recently, several cases of hepatic glycogenosis (HG) have been reported. García-Suárez et al. described a young female patient with poorly controlled type 1 diabetes, right upper quadrant pain and elevated serum transaminases and GGT. After other causes of liver disease were excluded and a liver biopsy was performed, the patient was diagnosed with HG ...
Horta,Diana +2 more
semanticscholar +7 more sources
CHARACTERISTICS OF THE HEPATIC MORPHOLOGICAL CHANGES IN CHILDREN WITH GLYCOGENOSIS [PDF]
Вопросы современной педиатрии, 2013 Aim: to determine characteristics of the hepatic morphology in children with I, III and VI types of glycogenosis. Patients and methods: 50 children with glycogenosis (6 with type I, 18 with type III and 26 with type VI) aged from 1 to 17 (6,5±0,6) years ...
A. N. Surkov +3 more
doaj +4 more sources
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations inAGL [PDF]
Human Mutation, 2006 Glycogenosis type III (Cori disease) is an autosomal recessive disorder caused by the deficiency of the glycogen debranching enzyme, encoded by the AGL gene, and existing in six isoforms alternately spliced in a tissue-specific way. Generally, disease onset occurs early on starting from the first year of life, with hepatomegaly, hypoglycemia ...
Serena Pagliarani +2 more
exaly +5 more sources
Hepatic Glycogenosis Resulting in Hyperammonemia in a Young Adult With Type 1 Diabetes Mellitus. [PDF]
JCEM Case RepA 19-year-old male individual with poorly controlled type 1 diabetes mellitus (T1DM) of 16 years duration presented with diabetic ketoacidosis (DKA) and was found to have hepatomegaly with disproportionately elevated transaminases, hyperammonemia, and ...
Dinh CB, Ghaben AL, Newfield RS.
europepmc +2 more sources
Diagnosis of hepatic glycogenosis in poorly controlled type 1 diabetes mellitus. [PDF]
World J 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 ...
Giordano S +8 more
europepmc +2 more sources
Hepatomegaly and type 1 diabetes: a clinical case of Mauriac’s syndrome [PDF]
Italian Journal of Pediatrics, 2019 Background Hepatic glycogenosis is characterized by excessive glycogen accumulation in hepatocytes and represents a complication of poor controlled type 1 diabetes. It can be caused by excessive insulin doses or recurrent ketoacidosis episodes. Mauriac’s
Fortunato Lombardo +5 more
doaj +2 more sources
Mauriac Syndrome: A Rare Complication of Type 1 Diabetes Mellitus [PDF]
European Journal of Case Reports in Internal Medicine, 2018 Mauriac syndrome, first described in 1930, is typically diagnosed in young patients with poorly controlled type 1 diabetes mellitus and growth retardation, delayed puberty, Cushingoid features, hypercholesterolaemia and hepatomegaly.
Maria João Rodrigues Ferreira Pinto +3 more
doaj +3 more sources
Glycogenic Hepatopathy: A Case Report of a Rare Complication in Uncontrolled Diabetes. [PDF]
Clin Case RepABSTRACT Glycogenic hepatopathy (GH) is an underrecognized yet reversible cause of hepatomegaly and transaminase elevation in adolescents with poorly controlled type 1 diabetes mellitus (T1DM). While liver biopsy is often utilized to exclude other hepatic pathologies, it can also aid in confirming GH when noninvasive findings are inconclusive.
Musleh M, AlMokbel A.
europepmc +2 more sources