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  • 1
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochemical and Biophysical Research Communications 43 (1971), S. 1362-1368 
    ISSN: 0006-291X
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochemical and Biophysical Research Communications 46 (1972), S. 288-295 
    ISSN: 0006-291X
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochemical and Biophysical Research Communications 43 (1971), S. 1362-1368 
    ISSN: 0006-291X
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
    Library Location Call Number Volume/Issue/Year Availability
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  • 4
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochemical and Biophysical Research Communications 42 (1971), S. 758-764 
    ISSN: 0006-291X
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-0533
    Keywords: Alzheimer's disease ; Electron microscopy ; Substantia nigra ; Nucleus centralis superior
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In four patients with presenile Alzheimer's disease (AD) and three age-matched controls a quantitative study of neurons and neurofibrillary tangles (NFT) in the substantia nigra (SN) and nucleus centralis superior (NCS) was performed. A significant neuronal loss, similar in both nuclei, was found in AD cases, while the incidence of NFT was remarkably higher in NCS. Moreover, no significant correlation between neuronal loss and number of NFT was detected. An electron-microscopic study revealed that the subcortical NFT in NCS are made up of paired helical filaments in spite of their globose round shape.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-0533
    Keywords: Axonal neuropathy ; Diabetic neuropathy ; Polyglucosan bodies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In the sural nerve of a 62-year-old woman with impaired glucose tolerance test and polyneuropathy, many intra-axonal polyglucosan bodies were observed. Polyglucosan bodies have been described in spontaneously or alloxan-diabetic rats, but are not usually observed in human diabetic neuropathy. Since intra-axonal polyglucosan bodies can occur in the sural nerve in various diseases and in aging, they are considered as non-specific changes. Their presence is probably related to a primary axonal neuropathy.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1573-2665
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Tandem mass spectrometric analysis of acylcarnitines and amino acids has been applied in newborn screening programmes for the detection of several inborn errors of metabolism. We report a false positive result for isovaleric acidaemia in a newborn screening programme using this method. The newborn screening sample showed a very prominent signal corresponding to the mass of isovalerylcarnitine. Repeat samples (age 6 days) of blood and urine showed similar results. However, urine organic acids were normal. Acylcarnitine analysis in blood, breast milk and urine of the mother also showed a prominent signal of the same mass. Gas chromatography–mass spectrometry of the methyl esters demonstrated that the signal in the patient's urine was due to the presence of pivaloylcarnitine, which is isomeric with isovalerylcarnitine. The patient's mother was receiving an antibiotic containing a derivative of pivalic acid to treat a urinary tract infection. Follow-up samples in the patient and the mother confirmed a decrease in the levels of pivaloylcarnitine, concomitant with the discontinuation of the treatment. We conclude that pivaloylcarnitine can give a false positive result for isovaleric acidaemia in newborns whose mothers are on treatment with pivoxilsulbactam-containing antibiotics.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Neurological sciences 15 (1994), S. 353-358 
    ISSN: 1590-3478
    Keywords: polyneuropathy ; POEMS syndrome ; monoclonal gammopathy ; osteosclerotic myeloma ; Castleman's disease ; cytokines
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Descriviamo 6 pazienti con sindrome POEMS (Polineuropatia, Organomegalia, Endocrinopatia, gammopatia Monoclonale, alterazioni cutanee [Skin changes]), una peculiare malattia ad interessamento multisistemico frequentemente associata a mieloma osteosclerotico o ad altre malattie plasmacellulari. Una polineuropatia sensitivo-motoria si accompagnava ad interessamento pluriviscerale in tutti i pazienti, a mieloma osteosclerotico in due casi, a gammopatia monoclonale di incerto significato in altri due, e a malattia di Castleman negli ultimi due pazienti. In tutti i 6 casi la biopsia del nervo surale dimostrava una neuropatia mista, demielinizzante ed assonale. In due casi sono stati trovati elevati livelli di Interleuchina-6, ma la patogenesi della malattia è ancora ignota.
    Notes: Abstract We report six patients affected by POEMS syndrome (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy, and Skin changes), a peculiar multiorgan disease frequently associated with osteosclerotic myeloma or other plasma cell disorders. Sensorimotor polyneuropathy was associated with multisystem involvement in all of the patients, with osteosclerotic myeloma in 2 cases, monoclonal gammopathy of undetermined significance in 2 cases and Castleman's disease in the final two. In all of the patients, sural nerve biopsy findings were consistent with a mixed, axonal and demyelinating neuropathy. Increased levels of Interleukin-6 were found in two cases, but the pathogenesis of the disease is far from established.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Neurological sciences 7 (1986), S. 447-452 
    ISSN: 1590-3478
    Keywords: Cockayne's syndrome ; peripheral neuropathy ; sural nerve biopsy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Vengono descritti due casi di Sindrome di Cockayne. In un caso è stata effettuata una biopsia del nervo surale che ha evidenziato una neuropatia periferica di tipo demielinizzante con rare inclusioni nelle cellule di Schwann, formate da materiale osmiofilo finemente granulare, vacuoli e strutture lamellari. Il significato di tali inclusioni è molto incerto. La presenza inoltre di corpi osmiofili lamellari intrassonali suggerisce una associata compromissione assonale.
    Notes: Abstract Two siblings with Cockayne syndrome are reported. In one case a sural nerve biopsy showed a demyelinating peripheral neuropathy with occasional inclusions in Schwann cells made up of electron dense finely granular material intermingled with vacuoles or lamellar structures. The significance, if any, of this accumulated material remains unclear. The presence, in addition, of small finely lamellar intra-axonal osmiophilic bodies suggests an associated axonal involvement
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Neurological sciences 4 (1983), S. 485-487 
    ISSN: 1590-3478
    Keywords: Bannwarth syndrome ; facial paralysis ; meningoradiculitis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Sono descritti due casi di sindrome di Bannwarth, ben conosciuta nelle letterature mediche straniere ma non segnalata nella letteratura italiana.
    Notes: Abstract Report of two cases of Bannwarth syndrome, an apparently neglected condition both in the Italian and in the English literature.
    Type of Medium: Electronic Resource
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