Results 31 to 40 of about 67,076 (344)
Hyperfiltration and renal disease in glycogen storage disease, type I.
Kidney International, 1989 A prospective study of 14 patients (ages 6 months to 33 years) with glycogen storage disease, Type I (GSD-I) was carried out in order to define the character and frequency of renal dysfunction. A marked increase in the glomerular filtration rate (GFR) was documented in virtually all subjects, with the mean GFR raised by approximately 50%, to the range ...
L. Baker +7 more
semanticscholar +4 more sources
Vascular Dysfunction in Glycogen Storage Disease Type I [PDF]
The Journal of Pediatrics, 2008 To determine cardiovascular disease risk in a larger cohort of patients with glycogen storage disease (GSD) I through the use of noninvasive measures of arterial function and anatomy.Carotid intima media thickness (IMT), radial artery tonometry, and brachial artery reactivity were performed in 28 patients with GSD I (13F/15M, mean age 23 years) and 23 ...
Angelina Bernier +5 more
openalex +5 more sources
Assessment of auditory functions in patients with hepatic glycogen storage diseases
The Turkish Journal of Pediatrics, 2022 Background. Hepatic glycogen storage diseases are a group of diseases manifesting mainly with hypoglycemia and hepatomegaly. The patients require frequent daytime and nocturnal feedings.
Merve Emecen Şanlı +9 more
doaj +1 more source
Gene Therapy for Type I Glycogen Storage Diseases [PDF]
Current Gene Therapy, 2007 The type I glycogen storage diseases (GSD-I) are a group of related diseases caused by a deficiency in the glucose-6-phosphatase-alpha (G6Pase-alpha) system, a key enzyme complex that is essential for the maintenance of blood glucose homeostasis between meals.
Janice Y. Chou, Brian C. Mansfield
openalex +4 more sources
The Pathogenesis of Hyperuricemia in Glycogen Storage Disease, Type I [PDF]
Pediatric Research, 1977 After the infusion of fructose, 0.25 g/kg body weight, blood uric acid levels were significantly increased above the mean basal value in five patients with glycogen storage disease (GSD), type I (P less than 0.02-P less than 0.05). The mean fasting blood inorganic phosphate (Pi) level in the patients was 3.9 +/- 0.3 mg/100 ml and was significantly ...
Thomas F. Roe, Maurice D. Kogut
openalex +4 more sources
Natural history of hepatocellular adenoma formation in glycogen storage disease type I. [PDF]
J Pediatr, 2011 Wang DQ +3 more
europepmc +2 more sources
ANTHROPOMETRIC AND DIETARY ASSESSMENT OF PATIENTS WITH GLYCOGENOSIS TYPE I
Revista Paulista de Pediatria, 2021 Objective: To perform anthropometric and dietary evaluation of patients with glycogenosis type Ia and Ib. Methods: This cross-sectional study is composed of a sample of 11 patients with glycogenosis divided into two subgroups according to the ...
Natália Bauab Jorge +2 more
doaj +2 more sources
Glucose production in type I glycogen storage disease
The Journal of Pediatrics, 1982 Satish C. Kalhan +3 more
openalex +3 more sources
Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)
Animals, 2023 Glycogen storage disease type II (Pompe disease: PD) is an autosomal recessively inherited fatal genetic disorder that results from the deficiency of a glycogen hydrolyzing enzyme, acid α-glucosidase encoded by the GAA gene.
Tofazzal Md Rakib +8 more
doaj +1 more source
Glycogen storage disease types I and II: Treatment updates [PDF]
Journal of Inherited Metabolic Disease, 2007 AbstractPrior to 2006 therapy for glycogen storage diseases consisted primarily of dietary interventions, which in the case of glycogen storage disease (GSD) type II (GSD II; Pompe disease) remained essentially palliative. Despite improved survival and growth, long‐term complications of GSD type I (GSD I) have not responded to dietary therapy with ...
Dwight D. Koeberl +2 more
openalex +4 more sources