Results 11 to 20 of about 42,767 (197)

LIVER TRANSPLANTATION FOR TYPE I GLYCOGEN STORAGE DISEASE [PDF]

open access: yesLancet, The, 1983
A 16½-year-old girl with type I glycogen storage disease was treated by orthotopic liver transplantation under cyclosporin/steroid immunosuppression. All metabolic stigmata of the disease were relieved and 1 year postoperatively she follows a normal diet
Alper   +15 more
core   +3 more sources

Liver transplantation for type IV glycogen storage disease [PDF]

open access: yesNew England Journal of Medicine, 1991
TYPE IV glycogen storage disease is a rare autosomal recessive disorder (also called Andersen's disease1 or amylopectinosis) in which the activity of branching enzyme alpha-1, 4-glucan: alpha-1, 4-glucan 6-glucosyltransferase is deficient in the liver as
Andreas Tzakis   +17 more
core   +3 more sources

Chimerism after Liver Transplantation for Type IV Glycogen Storage Disease and Type 1 Gaucher's Disease [PDF]

open access: yesNew England Journal of Medicine, 1993
Background: Liver transplantation for type IV glycogen storage disease (branching-enzyme deficiency) results in the resorption of extrahepatic deposits of amylopectin, but the mechanism of resorption is not known.
Adriana Zeevi   +13 more
core   +3 more sources

Clinical, muscle pathology and molecular biological features of late ⁃ onset glycogen storage disease typeⅡ

open access: yesChinese Journal of Contemporary Neurology and Neurosurgery, 2021
Objective To summarize the clinical, muscle pathology and molecular biological features of late⁃onset glycogen storage disease type Ⅱ (GSDⅡ). Methods and Results Five patients with late⁃onset GSD Ⅱ diagnosed and treated in The Fifth Affiliated Hospital ...
WU Shi⁃tao   +4 more
doaj   +1 more source

History of glycogen storage disease type Ⅱ

open access: yesChinese Journal of Contemporary Neurology and Neurosurgery, 2018
Glycogen storage disease type Ⅱ (GSD Ⅱ), which is also called Pompe disease, is an autosomal recessive hereditary metabolic disease resulting from mutations of acid α-glucosidase (GAA).
Cheng ZHANG, Liang WANG
doaj   +1 more source

Liver transplantation for type I and type IV glycogen storage disease [PDF]

open access: yes, 1993
Progressive liver failure or hepatic complications of the primary disease led to orthotopic liver transplantation in eight children with glycogen storage disease over a 9-year period.
A. G. Tzakis   +37 more
core   +1 more source

Rare case of type II glycogen storage disease [PDF]

open access: yes, 2015
The article presents information about a rare case of Pompe disease. It is a glycogen storage disease. During the third screening of a pregnant woman, the ultrasonography of the fetus’s heart revealed the myocardial hypertrophy of the left ventricle ...
Khabibullin, R. R.   +4 more
core   +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.
Baum   +30 more
core   +4 more sources

A nationwide assessment of hepatocellular adenoma resection: Indications and pathological discordance

open access: yesHepatology Communications, EarlyView., 2022
Abstract Hepatocellular adenomas (HCAs) are benign liver tumors associated with bleeding or malignant transformation. Data on the indication for surgery are scarce. We analyzed indications and outcome of patients operated for HCAs < 50 mm compared to HCAs ≥ 50 mm. Changes in final postoperative diagnosis were assessed.
Martijn P. D. Haring   +70 more
wiley   +1 more source

A patient with glycogen storage disease type Ib presenting with acute myeloid leukemia (AML) bearing monosomy 7 and translocation t(3;8)(q26;q24) after 14 years of treatment with granulocyte colony-stimulating factor (G-CSF): A case report [PDF]

open access: yes, 2008
Introduction Glycogen storage disease type Ib is an autosomal recessive transmitted disorder of glycogen metabolism caused by mutations in the glucose-6-phosphate translocase gene on chromosome 11q23 and leads to disturbed glycogenolysis as well as ...
Thomas Schroeder   +15 more
core   +2 more sources

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