Results 41 to 50 of about 84,845 (281)
Effectiveness of blood transfusions and risk factors for mortality in children aged from 1 month to 4 years at the Bon Marche Hospital, Bunia, Democratic Republic of Congo [PDF]
Objective To assess the effectiveness of blood transfusions in a hospital of north-eastern Democratic Republic of the Congo. Methods Prospective study of children admitted for severe anaemia.
Akech +9 more
core +2 more sources
Glycogen storage disease type 1a in the Ohio Amish
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
Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report [PDF]
We report on a case of very rare autosomal recessive cholesteryl ester storage disease due to lysosomal acid lipase deficiency (LALD). LALD is caused by mutations in the lysosomal acid lipase A (LIPA) gene resulting in cholesteryl ester accumulation in
Bobbert, Thomas +8 more
core +1 more source
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 type 1 diabetes: a clinical case of Mauriac’s syndrome
BackgroundHepatic 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.
F. Lombardo +5 more
semanticscholar +1 more source
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
Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases
Clinical findings of hepatomegaly and splenomegaly, the abnormal enlargement of the liver and spleen, respectively, should prompt a broad differential diagnosis that includes metabolic, congestive, neoplastic, infectious, toxic, and inflammatory ...
Teodoro Jerves Serrano +7 more
semanticscholar +1 more source
TCPOBOP (1,4‐Bis [2‐(3,5‐Dichloropyridyloxy)] benzene) is a constitutive androstane receptor (CAR) agonist that induces robust hepatocyte proliferation and hepatomegaly without any liver injury or tissue loss.
B. Bhushan +6 more
semanticscholar +1 more source
The treatment and control of schistosomiasis, a neglected disease that affects more than 200 million people worldwide, rely on the use of a single drug, praziquantel.
Daniel B Roquini +11 more
semanticscholar +1 more source
Alpha-1 antitrypsin deficiency [PDF]
α-1 antitrypsin is synthesised in the liver and protects lung alveolar tissues from destruction by neutrophil elastase. α-1 antitrypsin deficiency is a common autosomal recessive condition (1:1600 to 1:1800) in which liver disease results from retention ...
Primhak, R.A., Tanner, M.S.
core +2 more sources

