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  • 1
    Electronic Resource
    Electronic Resource
    Heterogeneity in Osteogenesis Imperfecta: Clinical and Morphological Findings (1988)
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 543 (1988), S. 0 
    Details
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1749-6632.1988.tb55313.x
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  • 2
    Electronic Resource
    Electronic Resource
    Lymphadenopathy in connection with human herpes virus type 6 (HHV-6) infection (1992)
    Springer
    Journal of molecular medicine 70 (1992), S. 59-62 
    Details
    ISSN: 1432-1440
    Keywords: Human herpes virus type 6 ; Infection ; Lymphadenopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Two siblings and their mother developed afebrile generalized lymphadenopathy. The lymph nodes were movable and painless. During the course of the illness, the mother and one child developed an uncharacteristic rash. Increased titers of human herpes virus type 6 (HHV-6) antibodies were found in all three family members and in an unrelated patient with lymphadenitis colli. The enlarged lymph nodes decreased in size within several weeks. We speculate these symptoms to be caused by an infection with this lymphotropic virus.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00422942
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  • 3
    Electronic Resource
    Electronic Resource
    SV40 transformed fibroblasts recognize the same 140 kD fibronectin chemotactic fragment as non-transformed cells (1985)
    Springer
    Cellular and molecular life sciences 41 (1985), S. 1591-1593 
    Details
    ISSN: 1420-9071
    Keywords: Fibronectin ; domains ; chemotaxis ; SV40 ; fibroblasts
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary SV40 virus-transformed human embryonal fibroblasts show an enhanced chemotactic response to the glycoprotein fibronectin. However, they recognize the same chemotactic active region as non-transformed fibroblasts. The result suggests that an enhancement of chemotaxis by fibroblasts which have been transformed with Simian Virus 40 is due not to the utilization of further chemotactic domains in the molecule, but to an increased sensitivity of the cells to the chemoattractant.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01964822
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  • 4
    Electronic Resource
    Electronic Resource
    Osteogenesis imperfecta: A clinical study of the first ten years of life (1992)
    Springer
    Calcified tissue international 50 (1992), S. 36-41 
    Details
    ISSN: 1432-0827
    Keywords: O.I. childhood ; Clinical course ; Classification
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Physics
    Notes: Summary One hundred twenty-seven children with osteogenesis imperfecta (O.I.) were studied during the first 10 years of life. According to Sillence, 40 patients were assigned to type I, 39 to type III, and 48 to type IV O.I. Centiles for height, weight, and the annual number of fractures could be established for the different types of O.I. The development of the skeletal changes could be documented for the different forms of the disease. At birth, the skeletal changes were significantly more severe in type III than in type IV patients. During the first 10 years of life the number of fractures, extent of skeletal deformities, and growth retardation did not differ between types III and IV. Only fracture nonunion, dentinogenesis imperfecta, and congenital cardiac malformations were more frequent in type III than in type IV. Papillary calcifications of the kidney and kidney stones were diagnosed in 4 type III and 2 type IV patients. Hemihypertrophy of the body developed, in 2 type I patients. Although types III and IV patients suffered from severe short stature, serum insulin-like growth factor (IGF) I was in the normal range.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00297295
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  • 5
    Electronic Resource
    Electronic Resource
    Heterogeneity of osteogenesis imperfecta. Biochemical and morphological findings in a case of type III according to Sillence (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 34-39 
    Details
    ISSN: 1432-1076
    Keywords: Osteogenesis imperfecta type III ; Collagen metabolism ; Morphology ; Skeletal maturation ; Variable expressivity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A male infant with pale-blue sclerae, who died at the age of 6 weeks through the aspiration of food, presented multiple fractures and deformation of the long tubular bones. The clinical and radiological findings and the course indicated osteogenesis imperfecta, type III, according to Sillence's classification. The family history was unremarkable. Light and electron microscopic studies of iliac crest bone obtained postmortem, showed an abrupt interruption of endochondral ossification, with an active periosteal ossification. In the region of the fractures, a mixed desmochondral callus was seen. The endoplasic reticulum of the osteoblasts was markedly dilated, the mitochondria were swollen. The osteoid was reduced in quantity. A postmortem analysis of the collagen types I, II and III obtained from skin, cartilage and bone yielded chromatographically normal collagen constituents. An analysis of the amino acids of the collagen α-chains showed an increased hydroxylysine content. The radiological findings and the clinical course both indicated type III osteogenesis imperfecta: identical biochemical findings have been described only for type II. The morphological and biochemical findings described here may be a manifestation of a variable expressivity of type III osteogenesis imperfecta. On the other hand, heterogeneity of type II osteogenesis imperfecta cannot be ruled out.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441849
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  • 6
    Electronic Resource
    Electronic Resource
    Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome) (1986)
    Springer
    European journal of pediatrics 145 (1986), S. 428-434 
    Details
    ISSN: 1432-1076
    Keywords: De Barsy syndrome ; Granulocyte function ; Collagen metabolism ; Elastin ; Chemotactic migration
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Clinical symptoms of a male infant are described and compared with cases now classified as the De Barsy syndrome, a distinct disorder related to cutis laxa. Morphologically, clastic fibres in skin were frayed and reduced in number and density. The collagen fibril network was normal. Biochemical studies on collagen metabolism in a skin specimen and in cultured skin fibroblasts showed a normal amino acid content and a normal electrophoretic pattern of collagen constituents. The chemotactic migration of cultured fibroblasts was diminished when compared with fibroblasts from donors of different age groups. Immunological investigations revealed an impaired granulocyte function.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00439254
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  • 7
    Electronic Resource
    Electronic Resource
    Clinical heterogeneity in infantile galactosialidosis (1987)
    Springer
    European journal of pediatrics 146 (1987), S. 528-531 
    Details
    ISSN: 1432-1076
    Keywords: Galactosialidosis ; Oligosaccharides ; Heterogeneity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A new case of infantile galactosialidosis is presented. The condition was diagnosed when the patient was 4 months of age and she died at 20 months. She exhibited some of the symptoms of classical infantile galactosialidosis but no corneal clouding, cherry-red macular spot or limitation of joint mobility. Sonographic examination showed large kidneys and thickened cardiac septa, two symptoms as yet undescribed in this disorder. Urinary oligosaccharide analysis gave grossly pathological results and subsequent fibroblast enzyme analysis showed a deficiency of α-neuraminidase and β-galactosidase. The patient's clinical features are compared with the few cases so far described in the literature.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441610
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  • 8
    Electronic Resource
    Electronic Resource
    Wolcott-Rallison syndrome: Diabetes mellitus and spondyloepiphyseal dysplasia (1982)
    Springer
    European journal of pediatrics 138 (1982), S. 120-129 
    Details
    ISSN: 1432-1076
    Keywords: Diabetes mellitus ; Bone dysplasia ; Growth ; Small stature ; Spondylo-epiphyseal dysplasia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In 1972, Wolcott and Rallison described three siblings with a combination of infancy-onset diabetes mellitus and multiple epiphyseal dysplasia. We have observed a brother and sister with the same disorder. The chondro-osseous lesions are those of a spondylo-epiphyseal dysplasia. The diabetes mellitus is relatively mild. Histologic and electron microscopic studies of chondro-osseous tissue show findings similar to those in other epiphyseal and spondylo-epiphyseal dysplasias. In addition, however, atypical collagen-like fibres are found inside and outside chondrocytes. Collagen production seems to be normal in cultured fibroblasts. From the available data it appears that the association of characteristic chondro-osseous and endocrine abnormalities is non-random and that the lesions are independent manifestations of a pleiotropic gene. We propose to call this disorder the Wolcott-Rallison Syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00441137
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  • 9
    Electronic Resource
    Electronic Resource
    A constitutional disorder of connective tissue suggesting a defect in collagen biosynthesis (1974)
    Springer
    Journal of molecular medicine 52 (1974), S. 906-912 
    Details
    ISSN: 1432-1440
    Keywords: Constitutional connective tissue disorder ; fibroblast cultures ; collagen biosynthesis ; Konstitutionelle Bindegewebserkrankung ; Fibroblastenkulturen ; Kollagenbiosynthese
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wird über eine konstitutionelle Bindegewebserkrankung bei dem 10 Jahre alten Sohn blutsverwandter Eltern berichtet. Das klinische und röntgenologische Befundmuster unterscheidet sich von bisher bekannten Syndromen, insbesondere der Osteogenesis imperfecta und dem Marfan-Syndrom, mit denen gewisse Ähnlichkeiten bestehen. In Fibroblastenkulturen aus Hautbiopsien wurde die Kollagenbiosynthese untersucht. Dabei zeigte sich, daß die Fibroblasten unterschiedliche Typen von α1-Ketten synthetisieren, während α2-Ketten weder im Kulturmedium noch in Zellextrakten nachgewiesen werden konnten. Es wird vermutet, daß die Störung der Kollagenbiosynthese mit den klinischen und röntgenologischen Befunden der Erkrankung in Verbindung steht.
    Notes: Summary An apparently “new” connective tissue disorder is described in the 10 year old son of consanguineous parents. The patient showed clinical and radiographic abnormalities reminiscent of both osteogenesis imperfecta and Marfan syndrome. Collagen biosynthesis was analysed in fibroblast cultures from skin biopsies. Fibroblasts of the patient synthesized different types ofα1 chains. No α2 chains could be detected in cell extracts or in culture media suggesting a defect in the synthesis of these compounds. The peculiar pattern of clinical abnormalities may be causally related to the apparent defect in collagen synthesis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01468935
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  • 10
    Electronic Resource
    Electronic Resource
    Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity (1998)
    Springer
    Journal of inherited metabolic disease 21 (1998), S. 71-72 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1005315531630
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