Results 21 to 30 of about 49,728 (243)
Glycogen storage disease in two sisters: A case report
Clinical Case Reports, 2023 Key Clinical Message Glycogen storage diseases (GSDs) are rare autosomal disorders that result from defects in glycogen metabolism. There are more than 12 types, each with distinct clinical features.
Sajal Twanabasu +4 more
doaj +1 more source
Glycogenic hepatopathy – An underrecognised cause of transaminitis in primary care settings: A case report [PDF]
Malaysian Family PhysicianGlycogenic hepatopathy (GH) is a rare but reversible hepatic condition associated with poorly controlled type 1 diabetes mellitus (T1DM). It results from excessive glycogen accumulation in hepatocytes, leading to hepatomegaly and elevated liver enzyme ...
Nordiyana Zainul Abidin +3 more
doaj +1 more source
Atypical presentation of scimitar syndrome with severe hepatomegaly: a case report.
, 2021 Scimitar syndrome is a rare congenital disease characterized by partial or total anomalous pulmonary venous return from the right lung into the systemic venous system, and accounts for 0.5-2% of all congenital heart disease.
Cruz-Galbán, Alba +2 more
core +1 more source
Embryonal Hepatoblastoma with Co-existent Glycogen Storage Disease in a Seven-month-old Child [PDF]
Journal of Clinical and Diagnostic Research, 2016 Hepatoblastoma is an uncommon malignant liver tumour diagnosed usually during the first three years of life. It presents as abdominal mass with elevated alpha fetoprotein levels. The definite diagnosis requires histopathological confirmation.
Nadia Shirazi +3 more
doaj +1 more source
Glycogen storage disease type 1a in the Ohio Amish
JIMD Reports, 2022 Glycogen storage disease type 1a (GSD1a) is an inborn error of glucose metabolism characterized by fasting hypoglycemia, hepatomegaly, and growth failure. Late complications include nephropathy and hepatic adenomas.
Ethan M. Scott +6 more
doaj +1 more source
JIMD Reports, 2020 Glycerol‐3‐phosphate dehydrogenase 1 deficiency is a rare autosomal recessive disorder caused by mutations in the GPD1 gene (GPD1; OMIM*138420). Very few cases are reported in literature.
Lorenza Matarazzo +8 more
doaj +1 more source
Hepatomegaly and splenomegaly in Oreochromisniloticus cultivated in cages system
, 2016 The hepatomegaly and splenomegaly are changes in mass and/or size of the liver and spleen, respectively. This study aims to assess the presence of hepatomegaly and splenomegaly in Oreochromis niloticus cultivated in cages system.
Biondi, Germano Francisco [UNESP] +4 more
core +1 more source
Ciência Rural, 2011 O maleato de acepromazina é um dos tranquilizantes mais utilizados em medicina veterinária, podendo causar esplenomegalia, mas não é conhecida a possibilidade de ocorrência de hepatomegalia.
Bernardo Fernandes Lopes +5 more
doaj +1 more source
Vivax Malaria Presenting with Fever and Tender Hepatomegaly
, 2017 Malaria caused by vivax is more common than those caused by falciparum. We report here a patient of vivax malaria presented with tender hepatomegaly. A 30 year old male from a rural area was admitted with high grade irregular fever for 5 days with severe
Karzan Dey Sarker +5 more
core +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi +2 more
wiley +1 more source