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  • 1
    Electronic Resource
    Electronic Resource
    A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria (1997)
    Springer
    Human genetics 〈Berlin〉 99 (1997), S. 199-201 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase. To date, four mutations of the gene have been reported. We report here another mutation in two Japanese families with HCP, which was revealed by analysis of polymerase chain reaction (PCR)-amplified DNA fragments of the gene by a direct-sequencing method. A point mutation, G to A, was found in exon 4 of the gene at position 538 of the cDNA from the reported putative translation initiation codon ATG. This mutation results in a glycine to arginine substitution at amino acid 180. Two carriers in the family were successfully diagnosed by detecting the mutation using restriction analysis of the PCR products.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050338
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Acute intermittent porphyria with central pontine myelinolysis and cortical laminar necrosis (1999)
    Springer
    Neuroradiology 41 (1999), S. 835-839 
    Details
    ISSN: 1432-1920
    Keywords: Key words Porphyria ; acute intermittent ; Encephalopathy ; porphyric ; Myelinolysis ; central pontine ; Necrosis ; cortical laminar ; Magnetic resonance imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Acute intermittent porphyria (AIP) is an autosomal-dominant disease caused by a deficiency of porphobilinogen (PBG) deaminase. Patients with AIP present with neurological syndromes such as autonomic neuropathy, peripheral axonal neuropathy or central nervous system dysfunction. We report serial MRI of a patient with AIP who had cortical and subcortical cerebral changes. A 29-year-old woman with a 6-month history of AIP had an attack with severe hyponatraemia and generalised convulsions, treated with haem arginate and supportive therapy. MRI showed central pontine and extrapontine myelinolysis and cortical laminar necrosis. These are not common in AIP, but are likely to have been caused by rapid correction of hyponatraemia and by vasospasm, which could be induced by AIP.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002340050852
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Hypocaeruloplasminaemia with heteroallelic caeruloplasmin gene mutation: MRI of the brain (1999)
    Springer
    Neuroradiology 41 (1999), S. 185-187 
    Details
    ISSN: 1432-1920
    Keywords: Key words Hereditary caeruloplasmin deficiency ; Magnetic resonance imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We present two patients with hypocaeruloplasminaemia and a heteroallelic caeruloplasmin gene mutation (HypoCPGM). These patients had diabetes mellitus and tremor of the hands, respectively. T2-weighted fast spin-echo MRI showed mildly reduced intensity of the putamen, much more marked on echo-planar imaging.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002340050730
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Response of truncated glucagon-like peptide-1 and gastric inhibitory polypeptide to glucose ingestion in non-insulin dependent diabetes mellitus (1995)
    Springer
    Acta diabetologica 32 (1995), S. 165-169 
    Details
    ISSN: 1432-5233
    Keywords: Gastric inhibitory polypeptide ; Truncated glucagon-like peptide-1 ; Incretin ; Sulfonylurea
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Gastric inhibitory polypeptide (GIP) and truncated glucagon like peptide-1 (tGLP-1) are potent gastrointestinal insulinotropic factors (incretin), mostly released after a meal or ingestion of glucose in man and animals. To investigate whether sulfonylurea (SU) affects the secretion of incretin, the modulation of plasma GIP and tGLP-1 levels following glucose ingestion in non-insulin-dependent diabetic type 2 patients with or without SU therapy was studied. A 75-g oral glucose tolerance test (OGTT) was carried out on 9 healthy subjects (controls) and 18 patients with non-obese type 2, 9 of whom were treated by diet alone (NIDDM-diet) and the other 9 with SU (glibenclamide 2.5 mg or gliclazide 40 mg) once a day (NIDDM-SU). Plasma GIP was measured by radioimmunoassay (RIA) with R65 antibody, and GLP-1 was measured by RIA with N-terminal-directed antiserum R1043 (GLP-1NT) and C-terminal-directed antiserum R2337 (GLP-1CT). Following OGTT, plasma glucose, GIP, GLP-1NT, and GLP-1CT in type 2 patients increased more markedly than in controls, despite the lower response of insulin. However, there were no significant differences in plasma levels of these peptides between the NIDDM-diet and NIDDM-SU groups. Therefore, it is unlikely that SU is involved in the high response of GIP and GLP-1s to OGTT in type 2 patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00838486
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  • 5
    Electronic Resource
    Electronic Resource
    A novel mutation of coproporphyrinogen oxidase (CPO) gene in a Japanese family (1998)
    Springer
    Journal of human genetics 43 (1998), S. 182-184 
    Details
    ISSN: 1435-232X
    Keywords: Key words Hereditary coproporphyria ; Coproporphyrinogen oxidase ; Gene mutation ; Single base deletion ; Frame shift
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Hereditary coproporphyria (HCP) is an autosomal dominant disease characterized by a deficiency of coproporphyrinogen oxidase (CPO). Only 11 mutations of the gene have been reported to date as the mutations responsible for HCP. We report here a novel mutation of the gene responsible for the disease in a Japanese family. Analysis of the polymerase chain reaction (PCR) amplified DNA fragments of the gene by direct-sequencing and/or cloning-based sequencing methods revealed the gene abnormality responsible for the disease. The mutation found was a single base deletion of T at nt position 526, which results in frame shift and truncation of coded protein at amino acid position 204. Screening of pre-symptomatic cases seemed to be possible by PCR restriction analysis using restriction enzyme Xcm I.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100380050065
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    Paper (German National Licenses)
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