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  • 1
    Electronic Resource
    Electronic Resource
    Wolman's disease: Clinical, biochemical and ultrastructural studies in an unusual case without striking adrenal calcification (1980)
    Springer
    European journal of pediatrics 135 (1980), S. 45-53 
    Details
    ISSN: 1432-1076
    Keywords: Wolman's disease ; Storage ; Cholesterylester ; Triglycerides ; Acid lipase ; Adrenal calcification ; Dyserythropoietic changes ; Foam cells
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A case of Wolman's disease is described in a German infant who died at the age of 4 months. Hepatosplenomegaly, abdominal distention, gastrointestinal symptoms, dyserythropoietic changes in the bone marrow, but not adrenal calcification on X-ray were present. Stored lipid material could be demonstrated in liver, spleen, intestine, adrenals, thymus, kidneys, blood cells, but not in the central nervous system. Cholesterylesters and triglycerides were markedly increased in liver and spleen. Lysosomal acid lipase was found to be decreased in leucocytes and liver to less than 10% of normal, when measured with synthetic and natural substrates.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00445892
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Absence of α-fucosidase activity in two sisters showing a different phenotype (1983)
    Springer
    European journal of pediatrics 140 (1983), S. 27-29 
    Details
    ISSN: 1432-1076
    Keywords: Fucosidosis ; α-fucosidase ; Oligosaccharides ; Mental deterioration ; Clinical heterogeneity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Two Austrian sisters with a different phenotype of fucosidosis are presented. The diagnosis was established by demonstrating complete α-l-fucosidase deficiency in the patients' liver as well as an increased excretion of oligosaccharides in the urine and an absence of α-l-fucosidase activity in skin fibroblasts of one patient. No correlation between enzyme activity and the different expression of the disease was found.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00661900
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical and immunological study (1991)
    Springer
    European journal of pediatrics 150 (1991), S. 584-591 
    Details
    ISSN: 1432-1076
    Keywords: Sphingolipid activator protein deficiency ; Metachromatic leucodystrophy ; Rectal biopsy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 7-year-old boy had clinical features of metachromatic leucodystrophy (MLD), however, an increased urinary sulphatide excretion was found in the presence of normal arylsulphatase A (and α-galactosidase A) activity. A rectal biopsy showed metachromatically staining storage macrophages as well as nonmetachromatic, but PAS-positive, submucosal neurons filled with membranous cytoplasmic bodies. These two types of storage material led to testing for a sphingolipid activator protein (SAP) deficiency. Loading tests with sulphatide and globotriaosylceramide showed deficient turnover of both sphingolipids in cultured fibroblasts. Using the Ouchterlony method, there was no reactivity between a described anti-SAP 1 antiserum and the patient's fibroblast extracts. This new case of SAP-1 deficient MLD was compared with the four cases of this variant known from the literature. Our results indicate that rectal biopsy morphology and lipid loading biochemistry should prove useful for the screening of SAP defects.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02072213
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  • 4
    Electronic Resource
    Electronic Resource
    Insulin-like growth factors in lysosomal storage disease (1992)
    Springer
    European journal of pediatrics 151 (1992), S. 29-31 
    Details
    ISSN: 1432-1076
    Keywords: Insulin-like growth factors ; Mannose-6-phosphate/insulin-like growth factor II receptor ; Lysosomal storage disorders
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Recent data indicate that insulin-like growth factor II (IGF II) and lysosomal enzymes bind to a common receptor. We measured serum IGF I and II levels in 16 patients with various lysosomal storage disorders. The IGF serum concentrations were normal as long as no marked liver disease was present. Under these conditions no direct interconnection between the lysosomal system and the serum IGF levels was found.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02073885
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  • 5
    Electronic Resource
    Electronic Resource
    A sensitive fluorescence assay for the simultaneous and separate determination of arylsulphatases A and B
    Amsterdam : Elsevier
    Clinica Chimica Acta 79 (1977), S. 527-531 
    Details
    ISSN: 0009-8981
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://linkinghub.elsevier.com/retrieve/pii/0009-8981(77)90172-3
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  • 6
    Electronic Resource
    Electronic Resource
    Atypical metachromatic leukodystrophy? (1984)
    Springer
    Human genetics 〈Berlin〉 67 (1984), S. 170-173 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A 3/12-year-old slightly retarded boy with marked deficiency of arylsulfatase A (ASA) activity in leucocytes and fibroblasts and almost no cerebroside sulfatase (CS) activity in fibroblasts was tested with the sulfatide-loading test. On this test his fibroblasts showed impaired degradation. A pathological excretion of sulfatides was seen in his urine. Nerve conduction velocity, visual evoked potential, auditory brain stem evoked response, and somatosensory evoked potential were all normal. His father and older brother had similarly low levels of ASA in leucocytes and fibroblasts and 1.7–2% residual CS activity in fibroblasts. Although both were clinically normal, their fibroblasts accumulated increased amounts of sulfatides when challenged in the sulfatide-loading test. In this family, this test thus will be of no value in prenatal diagnosis to discriminate among low ASA fetuses with pseudoarylsulfatase A deficiency and fetuses with this unusual ASA deficiency variant.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00272994
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  • 7
    Electronic Resource
    Electronic Resource
    Activator protein deficient Gaucher's disease (1989)
    Springer
    Journal of molecular medicine 67 (1989), S. 999-1003 
    Details
    ISSN: 1432-1440
    Keywords: A1 activator deficiency ; Glucosylceramide ; Neuronopathic Gaucher's disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A report is presented based on the biochemical and immunochemical studies of various tissues from a 15-year-old boy with a neuronopathic form of Gaucher's disease. Qualitative and quantitative lipid analyses revealed a storage of glucosylceramide. The striking feature was that, employing the usual assay methods, a normal activity of the lysosomal enzyme glucosylceramidase was revealed, despite massive lipid accumulation. Immunochemical assays of hepatic and splenic tissue extracts from this atypical Gaucher's patient disclosed the absence of A1 activator protein, which is necessary for the enzymic degradation of glucosylceramide in vivo. This is the second documented case of a patient presenting with glucosylceramide activator protein deficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01716064
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  • 8
    Electronic Resource
    Electronic Resource
    Biochemical, genetic, psychometric, and neuropsychological studies in heterozygotes of a family with globoid cell leucodystrophy (Krabbe's disease) (1981)
    Springer
    Human genetics 〈Berlin〉 58 (1981), S. 179-183 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Detection of a patient suffering from Krabbe's disease led to carrier screening in his family. Determination of galactosylceramide β-galactosidase activity revealed the occurrence of two different alleles among the carriers of the same family. Heterozygotes and their noncarrier relatives were studied using psychometric and neuropsychological tests under blind conditions. It was found that compared to seven adult noncarrier relatives 19 adult carriers differ significantly in their general IQ and some subtests of the Wechsler Intelligence Scale for adults (WISA), including spatial cognition. Reaction times were significantly slower in the carriers with enzyme activity below 25% of the control values. Most of the carriers of this family have had myopia since early childhood.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278707
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  • 9
    Electronic Resource
    Electronic Resource
    Leptomeningeal lipid storage patterns in Fabry disease (1994)
    Springer
    Acta neuropathologica 88 (1994), S. 579-582 
    Details
    ISSN: 1432-0533
    Keywords: Fabry disease ; Leptomeningeal storage ; External arachnoideal epithelium ; Restricted type of visceral storage
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We found two patterns of leptomeningeal storage that reflect two basic visceral storage patterns in Fabry disease. (i) A generalized-type leptomeningeal storage pattern, affecting all main leptomeningeal cell types (external arachnoideal epithelium, fibroblasts, vessel wall elements), was a consistent finding in three cases of classical generalized visceral phenotype. (ii) A localized leptomeningeal storage pattern was expressed, to a high degree, solely in the external arachnoidal epithelium; this pattern was found in one case with the variant visceral-restricted-type storage (confined to the cardiocytes). Thus, the external arachnoidal epithelium may be particurlarly susceptible to Fabry lipid storage, probably caused by a distinctly larger sustained lysosomal lipid load as compared to other cell types.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00296496
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  • 10
    Electronic Resource
    Electronic Resource
    Neuronopathic juvenile glucosylceramidosis due to sap-C deficiency: clinical course, neuropathology and brain lipid composition in this Gaucher disease variant (1999)
    Springer
    Acta neuropathologica 97 (1999), S. 91-97 
    Details
    ISSN: 1432-0533
    Keywords: Key words Neuronopathic Gaucher disease ; Sphingolipid activator proteins (SAPs) ; Glucocerebrosidase activator protein (sap-C) ; Glucosylceramide ; Gaucher brain
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Glucosylceramide lipidosis results from a defective lysosomal degradation of this glycolipid. Lipid degradation is controlled by two components, the enzyme β-glucocerebrosidase and a sphingolipid activator protein. While most Gaucher cases are due to mutations within the gene that codes for the lysosomal enzyme, only two patients have been described with normal enzyme levels and mutations in the gene for the sphingolipid activator protein C (sap-C). Here we present the detailed neurological manifestations, neuropathological findings and brain lipid composition in one sap-C-deficient patient. The patient was an 8-year-old boy who presented with transient losses of consciousness, myoclonic jerks and generalized seizures resistant to all antiepileptic drugs. He developed progressive horizontal ophthalmoplegia, pyramidal and cerebellar signs, and died at the age of 15.5 years. Neuropathological studies demonstrated neuronal cell loss and neuronophagia, massive intraneuronal lipid storage and lack of perivascular Gaucher cells. Electron microscopy examination showed different types of storage including lipofuscin granules as well as the cytosomes with parallel arrays of bilayers that are assumed to be formed by stored lipids. General brain lipid composition did not show a remarkable increase or loss of any of the major lipid fractions but the glucosylceramide concentration in the cortex of several anatomical regions showed a striking increase. Fatty acid composition of the ceramide moiety clearly suggests that gangliosides are the main precursors in the cerebral cortex, while it implies an additional and distinct source in the cerebellum. Studying the phenotypic consequences of mutant sphingolipid activator proteins is critical to a better understanding of the physiological significance of these proteins.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004010050960
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