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  • 1
    ISSN: 0945-053X
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Bei einem 18 Monate alten Mädchen war die Aktivität des lysosomalen Enzyms β-D-Glucuronidase in gezüchteten Fibroblasten, Leukocyten und im Blutserum erheblich vermindert. Obligat heterozygote Anlageträger hatten in Serum und Leukocyten eine auf ca. 50% der Norm herabgesetzte Enzym-Aktivität. Klinisch fiel die Patientin durch Hurler-ähnliche Gesichtszüge auf, durch eine mäßige geistige Retardierung und Hepatosplenomegalie. Die Hornhäute waren spaltlampenmikroskopisch klar. Granulocyten des periphernen Blutbildes zeigten eine dichte Speicherung grober Alder-Reillyscher Einschlüsse. Im Urin wurden vermehrt saure Mucopolysaccharide ausgeschieden. Es handelte sich um eine Mucopolysaccharidose Typ VII. Das Krankheitsbild wird durch eine ungenügende Aktivität der β-D-Glucuronidase hervorgerufen. Saure Mucopolysaccharide können nicht abgebaut werden und häufen sich intralysosomal an.
    Notes: Summary An 18-month-old female showed a markedly decreased activity of the lysosomal enzyme β-D-glucuronidase in cultured fibroblasts, leucocytes, and serum. In obligate heterozygotes, the serum and leucocyte β-D-glucuronidase activity was decreased to approximately 50% of the control values. Clinically, the patient had a mild facial dysmorphism reminiscent of Hurler disease, moderate mental retardation, and hepatosplenomegaly. The corneae were clear. Peripheral granulocytes contained abundant, coarse Alder-Reilly granulations. The urinary excretion of acid mucopolysaccharides was increased. The disorder has been classified as mucopolysaccharidosis, type VII. It is assumed that this new mucopolysaccharidosis is caused by the defective action of β-glucuronidase which results in the faulty degradation and intralysosomal storage of acid mucopolysaccharides.
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Increased amounts of free sialic acid were found in body fluids, leukocytes, cultured fibroblasts, and liver tissue of a four-year-old boy with mental retardation, ataxia, and clinical and radiologic findings of a mild mucopolysaccharidosis. A diagnosis of Salla disease was made though in contrast to earlier reports, recurrent upper respiratory infections and hepatosplenomegaly were present already in infancy, and skeletal abnormalities of dysostosis multiplex were found in early childhood. Free sialic acid in the urine was identified as N-acetylneuraminic acid by 1H-NMR spectroscopy. Sialidase activities were normal. Increased amounts of bound sialic acid were found in liver and cultured fibroblasts and were attributed to an intracellular inhibition of sialyloligosaccharide-degrading neuraminidase by excessive amounts of free neuraminic acid. The molecular basis of N-acetylneuraminic acid storage disease is unknown but may be related to a defective transport mechanism preventing neuraminic acid from leaving the lysosomal compartment.
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 9 (1970), S. 113-139 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary This review is an attempt to define a group of storage diseases which exhibit signs and symptoms of both the mucopolysaccharidoses and sphingolipidoses. Lacking some of the characteristics of the mucopolysaccharidoses while resembling to this group of thesaurismoses in other respects, these diseases frequently were described as “Hurler variants”. In Gm1 gangliosidosis types I and II, Fucosidosis, Mannosidosis and in infantile Sulfatidosis with mucopolysacchariduria enzyme defects have been identified which are thought to be causally related to the diseases. In others the pathogenesis is unknown. They are tentatively named Mucolipidosis I, II and III.
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 11 (1971), S. 190-212 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Auf der Grundlage der Erfahrungen des Kieler Knochendysplasie-Registers sowie auf Grund einer ausführlichen Literaturübersicht werden die klinischen und genetischen Daten von zwei Haupttypen der Chondrodysplasia punctata dargestellt und diskutiert. 1. Conradi-Hünermann-Typ: Hier finden sich vor allem epiphysäre, häufig asymmetrische Calcifizierungen und dysplastische Skeletveränderungen. In 17% finden sich Katarakte, in 28% Hautveränderungen. 2. Rhizomeler Typ: Schwere, symmetrische, proximale Verkürzung der Extremitäten sowie deutliche Veränderungen der Metaphysen in Kombination mit Katarakt in 72% und Hautveränderungen in 28% der Fälle. Dieses Zustandsbild führt in der Regel vor Ende des 1. Lebensjahres zum Tode. Es ist wahrscheinlich durch Homozygotie eines autosomalen Gens verursacht. Möglicherweise gibt es noch weitere Typen der Chondrodysplasia punctata. Die Chondrodysplasia punctata wurde mit dem cerebro-hepato-renalen Syndrom (Zellweger) sowie mit den multizentrischen epiphysalen Ossifikationen bei der multiplen epiphysären Dysplasie verwechselt. This work was completed during the tenure of a visiting professorship of J. S. at the Dept. of Pediatrics, Univ. of Wisconsin, Madison, Wisc.
    Notes: Summary Based on the experience of the Kiel registry of bone dysplasias and on an extensive review of the literature, the clinical and genealogic data of two major types of Chondrodysplasia punctata are presented and discussed. The Conradi-Hünermann type of C.p. with predominantly epiphyseal, frequently asymmetric calcifications and dysplastic skeletal changes was reported in combination with cataracts in 17% and with skin changes in 28% of cases. It has a relatively good prognosis and is possibly caused by a dominant mutation. Genetic heterogeneity and the influence of environmental factors cannot be excluded in this type. The rhizomelic type of C.p. with severe, symmetrical proximal shortening of the extremities, and marked metaphyseal changes was reported to be combined with cataracts in 72% of the cases and with skin changes in 28%. It seems to be a lethal condition leading to death usually before the end of the first year of life. It is probably caused by the homozygous state of an autosomal gene. Other types of Chondrodysplasia punctata possibly exist. Chondrodysplasia punctata has been confused particularly with Zellweger's cerebrohepato-renal syndrome and with multicentric epiphyseal ossification in multiple epiphyseal dysplasia.
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Human genetics 〈Berlin〉 33 (1976), S. 279-287 
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Sibs with apparent Dyggve-Melchior-Clausen (DMC) dwarfism and normal intelligence are described. Three other familial and 3 sporadic cases with DMC dwarfism and normal intelligence are known. Twelve familial and 9 sporadic cases are known with the usual combination of DMC dwarfism and severe mental retardation. Since the two conditions appear to breed true they seem to be genetically different. We propose to name the former “Smith-McCort dwarfism” to clearly distinguish it from the DMC syndrome in which mental retardation is a constituent part. Both conditions are inherited as autosomal recessive traits. Spinal cord compression due to atlantoaxial instability is a serious and preventable complication of both disorders.
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  • 7
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A severe, nonlethal short-limb bone dysplasia is described in two unrelated patients. The disorder is characterized by a peculiar facial appearance, rib anomalies and severe shortness and distortion of individual long bones, notably the humeri, tibiae, fibulae, metapodia and phalanges with marked irregularity and asymmetry of bone changes. The condition is differentiated from other bone dysplasias with extreme limb shortness, in particular Grebe chondrodysplasia.
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  • 8
    ISSN: 1433-3015
    Keywords: Key words.Concurrent system engineering; Control software; Hierarchical Petri nets; Manufacturing software; Process model; Reusable components; Temporal logics; Validation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics
    Notes: The application of Petrinets is one of the well-known approaches for developing provably error-free control software for manufacturing systems. To evaluate the practicability of available methods and tools for at least medium-sized systems, a case study has been performed to develop modularised control software of a production cell with hierarchical Petri nets, supporting reuse as well as stepwise validation.
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  • 9
    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.
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  • 10
    ISSN: 0014-5793
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
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