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glycogen storage disease/албумин

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Serum concentrations of albumin, C-reactive protein, alpha 2-macroglobulin, prealbumin, fibronectin, fibrinogen, transferrin, and retinol binding protein in 55 patients with hepatic glycogen storage diseases.

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Hepatic glycogen storage diseases are hereditary metabolic disorders involving the metabolism of glycogen. This study was designed to investigate the serum protein status in such diseases. Fifty-five patients with glycogen storage disease types I, III, VI, and IX, whose ages ranged from 1 month to

Outcomes of liver transplantation for glycogen storage disease: a matched-control study and a review of literature.

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BACKGROUND The clinical characteristics and outcomes of patients with glycogen storage disease (GSD) who undergo liver transplantation (LT) have not been well defined. In this study, our objective was to determine the outcome of LT in patients with GSD and compare it with a comparable group of

Effect of continuous glucose therapy begun in infancy on the long-term clinical course of patients with type I glycogen storage disease.

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BACKGROUND To evaluate the effects of continuous glucose therapy on metabolic control, occurrence of severe hypoglycemia, physical growth and development, and complications of glycogen storage disease type I (GSD-I). METHODS Seventeen patients (11 males) with GSD-I were studied, mean age 14.6+/-5.0

Establishment and directed differentiation of induced pluripotent stem cells from glycogen storage disease type Ib patient.

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Glycogen storage disease type Ib (GSDIb) is caused by a deficiency in the glucose-6-phosphate transporter (G6PT), which leads to neutrophil dysfunction. However, the underlying causes of these dysfunctions and their relationship with glucose homeostasis are unclear. Induced pluripotent stem cells

alpha1,4-Glucosidase-albumin polymers: in vitro properties and advantages for enzyme replacement therapy.

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Soluble polymers of rat (or human) albumin and alpha-1,4-glucosidase are prepared using the cross-linking agent glutaraldehyde. The resulting polymer has an average molecular weight of 800 000 indicating an average composition of 12 albumin molecules for each enzyme molecule. Compared with an

Changes in nutritional status and body composition during enzyme replacement therapy in adult-onset type II glycogenosis.

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BACKGROUND In adult glycogen storage disease type II (GSDII), a single-gene mutation causes reduction of the lysosomal enzyme acid alpha-glucosidse. This produces a chronic proximal myopathy with respiratory involvement. Enzyme replacement treatment (ERT) has recently become available and is

Glycogen storage disease type Ia: frequency and clinical course in Turkish children.

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The aim of this study was to determine the relative frequency of type Ia in glycogen storage disease (GSD) with prominent liver involvement and to determine its clinical and laboratory findings and prognosis in Turkish children. From 1980 to 1998, 45 out of 100 GSD patients (27 male) with liver

Short-term effect of captopril on microalbuminuria in children with glycogen storage disease type Ia.

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Early signs of renal dysfunction in glycogen storage disease type Ia (GSD Ia) are glomerular hyperfiltration and proteinuria. In a non-randomized study, the effect of captopril on the improvement of proteinuria in GSD Ia patients with microalbuminuria was investigated. A positive effect has been

Glomerular and tubular function in glycogen storage disease.

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Urinary protein and calcium excretion were assessed in 77 patients with the hepatic glycogen storage diseases (GSD): 30 with GSD-I (median age 12.4 years, range 3.2-32.9 years), 25 with GSD-III (median age 10.5 years, range 4.2-31.3 years) and 22 with GSD-IX (median age 11.8 years, range 1.2-35.4

An association among iron, copper, zinc, and selenium, and antioxidative status in dyslipidemic pediatric patients with glycogen storage disease types IA and III.

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Dyslipidemia in patients with glycogen storage disease types Ia (GSD Ia) and III (GSD III) does not lead to premature atherosclerosis. The aim of this study was to investigate the association among serum copper (Cu), zinc (Zn), iron (Fe), and selenium (Se) concentrations, and their carrier proteins:

Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition.

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OBJECTIVE Renal failure is a major complication in glycogen storage disease type I (GSD I). We studied the natural course of renal function in GSD I patients. We studied differences between patients in optimal and nonoptimal metabolic control and possible renoprotective effects of angiotensin

Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease.

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To evaluate the effects of uncooked cornstarch (UCS) on metabolic control, growth, and complications of pubertal and postpubertal subjects with type 1a glycogen storage disease, we studied 26 subjects (16 males), mean age 20.8+/-5.1 years, in whom continuous glucose therapy with cornstarch began at

Lessons from new mouse models of glycogen storage disease type 1a in relation to the time course and organ specificity of the disease.

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Patients with glycogen storage diseases type 1 (GSD1) suffer from life-threatening hypoglycaemia, when left untreated. Despite an intensive dietary treatment, patients develop severe complications, such as liver tumors and renal failure, with aging. Until now, the animal models available for

Metabolic control and renal dysfunction in type I glycogen storage disease.

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This study was undertaken to determine the effect on renal function of continuous glucose therapy from early childhood. Twenty-three subjects, median age 13.9 years, range 5.9-26.9 years, with type I glycogen storage disease (GSDI) treated with continuous glucose therapy from a median age of 1.3

Hyperfiltration and renal disease in glycogen storage disease, type I.

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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
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