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  • 1
    Electronic Resource
    Electronic Resource
    Focal fatty liver change in glycogenosis type 1 a (1995)
    Springer
    European journal of pediatrics 154 (1995), S. 332-332 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957374
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Bone mineralisation in type 1 glycogen storage disease (1995)
    Springer
    European journal of pediatrics 154 (1995), S. 483-487 
    Details
    ISSN: 1432-1076
    Keywords: Glycogen storage disease type 1 ; Bone density ; Osteoporosis ; Kidney tubules ; Calcium
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Radial bone mineral content (BMC) was measured using single photon absorptiometry in 11 prepubertal children, aged 3.4–12.6 years, with glycogen storage disease type 1 (GSD-1), 2 of whom were receiving granulocyte colony stimulating factor (G-CSF) therapy for chronic neutropenia. Patients were short (median height SD score −1.35, range −3.74 to −0.27), and had reduced BMC Z scores (median 1.79, range −6.35 to +0.27) and radial bone width Z scores (median −0.72, range −2.00 to +0.68). Those receiving G-CSF did not differ significantly from the rest of the group. Generally dietary calcium intake was low and urinary calcium excretion increased. Urinary lactate excretion was high but did not correlate with BMC Z scores. Factors regulating bone metabolism (parathyroid hormone and 25-hydroxy vitamin D concentrations) and markers of bone formation (osteocalcin and skeletal alkaline phosphatase) were not increased implying that there was no compensation for increased bone resorption. Conclusion Patients with GSD-1 may be at increased risk of fracture in later life and require close attention to metabolic control and calcium balance.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02029361
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  • 3
    Electronic Resource
    Electronic Resource
    Glomerular and tubular function in glycogen storage disease (1995)
    Springer
    Pediatric nephrology 9 (1995), S. 705-710 
    Details
    ISSN: 1432-198X
    Keywords: Glycogen storage disease ; Hyperfiltration ; Proteinuria ; Hypercalciuria ; Tubular function
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract 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 years). Inulin (C inulin) and para-aminohippuric acid (C PAH) clearances were also measured in 33 of these patients. Those with GSD-I had significantly greater albumin (F=15.07,P〈0.001), retinolbinding protein (RBP) (F=14.66,P〈0.001),N-acetyl-β-d glucosaminidase (NAG) (F=9.41,P〈0.001) and calcium (F=7.41,P=0.001) excretion than those with GSD-III and GSD-IX. GSD-I patients (n=18) also had significantly higherC inulin (F=5.57,P=0.009), butC PAH did not differ (F=0.77, NS). Renal function was normal in GSD-III and GSD-IX patients. In GSD-I,C inulin (r=−0.51,P=0.03) and NAG excretion (r=−0.40,P=0.03) were inversely correlated with age, whereas albumin excretion was positively correlated with age (r=+0.41,P=0.03). RBP and calcium excretion were generally high throughout all age groups. Hyperfiltration in GSD-I is associated with renal tubular proteinuria that occurs before the onset of significant albuminuria. Deficiency of glucose-6-phosphatase within the proximal renal tubule may primarily cause tubular dysfunction, glomerular hyperfiltration being a secondary phenomenon.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00868717
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  • 4
    Electronic Resource
    Electronic Resource
    Cardiomyopathy of glycogen storage disease type III (1993)
    Springer
    Heart and vessels 8 (1993), S. 155-159 
    Details
    ISSN: 1615-2573
    Keywords: Cardiomyopathy ; Glycogen storage disease ; Echocardiography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary To identify the severity of cardiac involvement in glycogen storage disease type III (GSDIII), and its relation to skeletal muscle involvement and age, 23 patients were studied. The median age was 10 years. Echocardiography, electrocardiography, and creatine phosphokinase (CK) levels were used to assess cardiac and skeletal muscle involvement. Septal and left ventricular posterior wall measurements were compared with normal data. Shortening fraction was derived from left ventricular cavity dimensions. In some patients the echocardiogram resembled that of hypertrophic cardiomyopathy. Thirteen of 20 electrocardiograms (ECG) were abnormal. Eleven patients had septal and/or posterior wall thickness 〉95% confidence limits (CL). Despite this, cardiac symptoms were uncommon. The CK levels were not directly associated with cardiac abnormalities. Older patients (〉20 years) had more abnormal measurements of posterior wall thickness than did younger ones (〈20 years). This finding, albeit in a cross-sectional series, suggests progressive myocardial involvement with age despite the absence of symptoms.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01744800
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    The analysis of trimethylamine in body fluids by a direct medium resolution mass spectrometric method (1984)
    Chichester : Wiley-Blackwell
    Biological Mass Spectrometry 11 (1984), S. 1-3 
    Details
    ISSN: 0306-042X
    Keywords: Chemistry ; Analytical Chemistry and Spectroscopy
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Chemistry and Pharmacology
    Notes: A simple, high throughput method of analysis of trimethylamine in body fluids has been developed to assist with the management of patients with the inherited metabolic disorder, trimethylaminuria. The headspace in sealed vials was analysed using perdeuterated (2H10)trimethylamine hydrochloride as an internal standard. The gas chromatograph inlet system of the mass spectrometer was adapted to suit this method of analysis. Medium resolving power was used to measure the ion ratio of the [M-H]+ ion of trimethylamine and the [M-2H]+ ion of the internal standard. The method is faster and more accurate than gas chromatographic methods. The concentrations of trimethylamine found in normal urine are similar to those reported previously.
    Additional Material: 1 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/bms.1200110102
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    Paper (German National Licenses)
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