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  • 1
    ISSN: 1432-1076
    Keywords: Mucopolysaccharidoses ; Sanfilippo C disease ; Acetyl CoA: α-glucosaminide N-acetyltransferase
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A new genetic variant of the Sanfilippo syndrome due to deficiency of acetyl CoA: α-glucosaminide N-acetyltransferase, was recently demonstrated in four patients. The clinical findings of these patients are reported here. Differential diagnosis from other types of the Sanfilippo syndrome on clinical and routine laboratory criteria is difficult and enzyme assay is necessary to reach the diagnosis. Since two of the patients reported are females and consanguinity was present in one case, autosomal recessive inheritance is most probable.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 140 (1983), S. 34-40 
    ISSN: 1432-1076
    Keywords: Rheumatoid arthritis ; Chronic juvenile polyarthritis ; Collagen diseases ; Spondylarthropathies ; Osteochondrodysplasia ; Connective tissue diseases ; Platyspondyly
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Five patients are described with a hereditary arthropathy affecting major and minor joints. The main features of this progressive connective tissue disorder are restricted joint mobility, osseous swelling of the interphalangeal and other joints, and platyspondyly. The condition is commonly misdiagnosed as “chronic juvenile polyrthritis with Scheuermann disease”. It differs from the rheumatoid-factor-negative polyarticular form of rheumatoid arthritis and other rheumatoic spondylarthropathies by the absence of arthritic and other inflammatory changes, radiographically by the absence of destructive and the presence of dysplastic bone changes. The disorder does not seem to respond to the usual forms of antirheumatoid treatment. Histological studies showed a peculiar, nest-like clustering of chondrocytes in the resting and growth cartilage suggesting that pathogenetically this is a primary disorder of the articular cartilage.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1076
    Keywords: Insulin-dependent diabetes mellitus ; Osteopenia ; Bone density
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Twelve children (8 boys and 4 girls) with insulin-dependent diabetes mellitus (IDDM), aged 9–15 years, received 1α-hydroxyvitamin D3 (1α-OHD3) in a dose of 0.05 μg/kg per day for 1 year. Duration of disease varied between 2.8 and 9 years. Bone density was determined in the distal third of forearm using single photon absorptiometry, and was expressed as standard scores (±SD) with respect to sex- and agematched controls. Bone density measurements and ultrasound studies of the kidneys were performed at 0,6 and 12 months. Serum calcium, ionized calcium, phosphorus, magnesium, creatinine, alkaline phosphatase, glycosylated haemoglobin in morning blood samples and urinary Ca, P, Mg, and hydroxyproline were regularly determined. One patient was excluded from the study because of hypercalciuria and one because of lack of compliance. Bone density increased significantly after 6 and 12 months of 1α-OHD3 administration (P=0.015,P〈0.001 respectively). None of the biochemical parameters changed significantly. Conclusion Osteopenia is not uncommon in children and adolescents with IDDM. In 10 children with IDDM and osteopenia the administration of 1α-OHD3 for 1 year corrected bone loss.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1076
    Keywords: Insulin-dependent diabetes mellitus ; Osteopenia ; Bone density
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Twelve children (8 boys and 4 girls) with insulin-dependent diabetes mellitus (IDDM), aged 9–15 years, received 1α-hydroxyvitamin D3 (1α-OHD3) in a dose of 0.05 μg/kg per day for 1 year. Duration of disease varied between 2.8 and 9 years. Bone density was determined in the distal third of forearm using single photon absorptiometry, and was expressed as standard scores (±SD) with respect to sex- and agemateched controls. Bone density measurements and ultrasound studies of the kidneys were performed at 0,6 and 12 months. Serum calcium, ionized calcium, phosphorus, magnesium, creatinine, alkaline phosphatase, glycosylated haemoglobin in morning blood samples and urinary Ca, P, Mg, and hydroxyproline were regularly determined. One patient was excluded from the study because of hypercalciuria and one because of lack of compliance. Bone density increased significantly after 6 and 12 months of 1α-OHD3 administration (P=0.015,P〈0.001 respectively). None of the biochemical parameters changed significantly.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1076
    Keywords: Key words Growth hormone ; Bone ; Osteocalcin ; Parathormone ; 1 ; 25(OH)2vitD
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The effects of human growth hormone (hGH) therapy on biochemical markers of bone metabolism were studied in 17 children (10 boys and 7girls, aged 3.7–13.1 years old) with idiopathic GH deficiency, before and 1 and 6 months after GH therapy (0.5–0.7 IU/kg weekly, SC). Serum levels of calcium, phosphate, alkaline phosphatase, osteocalcin, parathyroid hormone, 1,25 dihydroxyvitamin D, insulin-like growth factor I (IGF-I) and renal phosphate per 100 ml glomerular filtrate (TPO4/GFR) were assessed. During therapy with hGH, a significant decrease of serum calcium levels and increases of phosphate, osteocalcin, parathyroid hormone 1,25 dihydroxyvitamin D and IGF-I were observed. TPO4/GFR was also significantly increased. Growth response (increment in HV) was positively related with changes in alkaline phosphatase and IGF-I levels after 6 months of hGH therapy. There was also a significant positive correlation between increment in HV and increment in TPO4/GFR after 1 month of GH therapy, whereas no correlation between HV and changes in osteocalcin levels was found. Conclusion GH treatment significantly influences mineral metabolism and the measurement of TPO4/GFR after 1 month of GH therapy may serve as a useful predictor of growth response to hGH therapy in GH-deficient children.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Journal of inherited metabolic disease 16 (1993), S. 1042-1043 
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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