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  • 1
    Electronic Resource
    Electronic Resource
    Buchbesprechungen (1986)
    Springer
    Journal of molecular medicine 64 (1986), S. 130-130 
    Details
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01732636
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  • 2
    Electronic Resource
    Electronic Resource
    Buchbesprechungen (1978)
    Springer
    Journal of molecular medicine 56 (1978), S. 631-633 
    Details
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01477014
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  • 3
    Electronic Resource
    Electronic Resource
    Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy (1991)
    Springer
    European journal of pediatrics 150 (1991), S. 287-290 
    Details
    ISSN: 1432-1076
    Keywords: Arylsulphatase A ; Metachromatic leukodystrophy ; Arylsulphatase A pseudodeficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report on a family with a sibship of three children for whom the diagnosis of “an unusual form of metachromatic leukodystrophy (MLD)” had been suggested earlier. The patients had choreiform movements and dystomic posturing accompanied by dysarthria since childhood. The availability of the polymerase chain reaction enabled us to show that the three siblings have a pseudodeficiency genotype (ASAp/ASAp). There was no abnormal sulphatiduria, and we propose that the neurological disease and low arylsulphatase A activity are unrelated to one another in this family. A diagnosis of MLD carries very serious implications, and we recommend that gene amplification by polymerase chain reaction and hybridization with allele-specific oligonucleotide probes should be used to corroborate the diagnosis, especially when there is no abnormal sulphatiduria and when metachromatic material cannot be demonstrated in a sural nerve biopsy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955534
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  • 4
    Electronic Resource
    Electronic Resource
    Estimation of Zinc in Biological Specimens: Determination of Zinc-65 (1954)
    [s.l.] : Nature Publishing Group
    Nature 173 (1954), S. 348-349 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] THERE is evidence that zinc is necessary for animals and plants; but information about the physiological role of this metal is scant. The enzyme csCrbonic anhydrase, present in red blood cells and certain other tissues, contains zinc as an integral part of the protein molecule1; but little is known ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/173348a0
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  • 5
    Electronic Resource
    Electronic Resource
    Estimation of Zinc in Biological Specimens: Separation of Radioactive Zinc from Cyclotron-irradiated Copper (1954)
    [s.l.] : Nature Publishing Group
    Nature 173 (1954), S. 349-349 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] THE chemieal separation of radioactive zinc of very high specific activity from cyclotron-irradiated copper usually presents considerable practical difficulties on account of the minute amounts of total zinc which have to be separated from relatively large amounts of copper. In the method ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/173349a0
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  • 6
    Electronic Resource
    Electronic Resource
    Crystalline Deposits in Striped Muscle in Xanthinuria (1969)
    [s.l.] : Nature Publishing Group
    Nature 221 (1969), S. 170-171 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Patient A is a 31 year old negro male from Guyana, the fourth of nine siblings of a non-consanguineous marriage. There is no family history of muscle disorder or renal stones. For four years he has had painful, "tight" sensations in the thighs and calves. These are present at rest and increase ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/221170a0
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  • 7
    Electronic Resource
    Electronic Resource
    Progress in screening for inborn errors of metabolism (1978)
    Springer
    Cellular and molecular life sciences 34 (1978), S. 143-152 
    Details
    ISSN: 1420-9071
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The inborn errors of metabolism are a series of individually rare biochemical anomalies some of which cause serious clinical manifestations. They are of great interest to biochemists and geneticists, as well as to paediatricians and internist for whom they often present special diagnostic and therapeutic problems. The study of the inborn errors of metabolism also has implications in the fields of epidemiology and social medicine. The number of known inborn errors of metabolism has increased rapidly in recent years, and others, as yet unidentified, presumably await recognition. Only a few of these conditions can be treated now, but the realisation that early diagnosis is essential in order to achieve good results has stimulated interest in the possibility of examining either whole populations or selected predisposed groups of individuals for biochemical differences which characterise particular inherited metabolic diseases. This article reviews some recent developments with particular reference to the indications for such screening programmes and progress in the identification of previously unknown inborn errors of metabolism in otherwise homogeneous population groups. — The inborn errors of metabolism are due to single gene mutations. — Recognition of the asymptomatic individuals who are heterozygous for the abnormal gene causing the disease may be important clinically and the identification of these individuals has to be considered as one aspect of metabolic screening for the inborn errors of metabolism.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01944644
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  • 8
    Electronic Resource
    Electronic Resource
    Metabolic yearbook (1977)
    [s.l.] : Nature Publishing Group
    Nature 269 (1977), S. 631-631 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] THIS is the first of a new series of annual publications in which the previous year's developments in selected broad areas of metabolism related to human disease are reviewed. The following topics were chosen: hormone receptors, cyclic nucleotides and control of cell function; diabetes mellitus; ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/269631c0
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  • 9
    Electronic Resource
    Electronic Resource
    Computed tomography studies on patients with mucopolysaccharidoses (1981)
    Springer
    Neuroradiology 21 (1981), S. 9-23 
    Details
    ISSN: 1432-1920
    Keywords: Mucopolysaccharidoses ; Computed tomography ; Hurler disease ; Hunter disease ; Sanfilippo disease ; Morquio disease ; Scheie disease ; Hurler/Scheie disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The appearances on computed tomography (CT) in eight patients with mucopolysaccharidosis Type I [five with classical Type IH (Hurler disease)], two with mucopolysaccharidosis Type II (Hunter disease) and two with mucopolysaccharidosis Type IIIB (Sanfilippo B disease) are presented. Reference is also made to two further cases [mucopolysaccharidosis VI and mucopolysacharidosis IIIB] in which the CT showed special features. Follow-up scans were obtained to assess the evolution of the changes. The interplay of neuronal damage, cerebral atrophy and obstruction to the cerebrospinal fluid (CSF) circulation in the production of the cerebral manifestations, and the extent to which non-genetic factors influence the expression of the underlying biochemical lesion, are discussed. This series of patients illustrates the problem of classifying those with α-iduronidase deficiency, who do not have the classical Hurler disease phenotype (mucopolysaccharidosis IS and IH/S; Scheie disease and Hurler/Scheie disease), on the basis of currently available criteria. The place of CT in the diagnosis of complications due to thecal involvement is examined. The density of grey matter on the CT scans was similar to that of normal brain. Inhaled xenon did not produce any special enhancement which could be helpful in assessing the degree of the mucopolysaccharide deposition within cerebral cells. Symmetrical low attenuation in the white matter was a very common finding. It was not specifically associated with hydrocephalus and its relationship to some of the known neuropathological aspects of mucopolysaccharidoses is discussed. This work has shown that the stage in the evolution of the mucopolysaccharidoses at which hydrocephalus develops as a complication is highly variable and CSF diversion procedures are sometimes indicated to improve the quality of the patients' lives. These indications are briefly discussed. We consider that CT is essential for the adequate appraisal of these patients and to identify some treatable complications.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00518788
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  • 10
    Electronic Resource
    Electronic Resource
    D-2-hydroxyglutaric aciduria: Case report and biochemical studies (1980)
    Springer
    Journal of inherited metabolic disease 3 (1980), S. 11-15 
    Details
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient with protein-losing gastroenteropathy and egg allergy has been shown to have a previously unrecognized organic aciduria,d-2-hydroxyglutaric aciduria. The observations made are consistent with an inherited metabolic disorder in the catabolism of 5-aminolaevulinate possibly due to deficient activity of a specificd-2-hydroxyglutarate dehydrogenase.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02312516
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