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  • 1
    Electronic Resource
    Electronic Resource
    Photochemistry of copper(II) macrocyclic complexes bound to poly(acrylic acid): time-resolved observations in a picosecond-millisecond time domain and sequential biphotonic excitations (1990)
    s.l. : American Chemical Society
    Inorganic chemistry 29 (1990), S. 4747-4750 
    Details
    ISSN: 1520-510X
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1021/ic00348a031
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  • 2
    Electronic Resource
    Electronic Resource
    Heterogeneous electron transfer as a pathway in the dissolution of magnetite in oxalic acid solutions (1983)
    s.l. : American Chemical Society
    Inorganic chemistry 22 (1983), S. 2224-2226 
    Details
    ISSN: 1520-510X
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1021/ic00158a002
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  • 3
    Electronic Resource
    Electronic Resource
    Effect of polyelectrolytes on the kinetics of ionic reactions. IV. Decomposition of aspirin in aqueous solutions containing polycations (1974)
    s.l. : American Chemical Society
    Journal of the American Chemical Society 96 (1974), S. 4489-4494 
    Details
    ISSN: 1520-5126
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1021/ja00821a023
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  • 4
    Electronic Resource
    Electronic Resource
    The gene coding for the α-chain of human propionyl-CoA carboxylase maps to chromosome band 13q32 (1990)
    Springer
    Human genetics 〈Berlin〉 86 (1990), S. 238-240 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The human gene encoding the α-polypeptide of propionyl-CoA carboxylase (PCC) has hitherto been localized to the distal half of the long arm of chromosome 13, segment 13q22→q34. We studied the enzyme activities of mitochondrial carboxylases in cell cultures obtained from patients with different deletions of chromosome 13. By setting the PCC activity in normal diploid cell cultures (control group) at 100%, cell cultures with trisomy 13 showed 150% activity. In contrast, one of four patients with partial monosomy 13 had an enzyme activity of only 50%. Thus, by comparative deletion mapping, combined with studies of the gene-dosage effect, we have been able to assign the PCCA gene locus to chromosome band 13q32.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00197713
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  • 5
    Electronic Resource
    Electronic Resource
    Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia (1994)
    Springer
    Human genetics 〈Berlin〉 93 (1994), S. 655-658 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have investigated the molecular lesions of T-protein deficiency causing typical or atypical nonketotic hyperglycinemia (NKH) in two unrelated pedigrees. A patient with typical NKH was identified as being homozygous for a missense mutation in the T-protein gene, a G-to-A transition leading to a Gly-to-Asp substitution at amino acid 269 (G269D). Sibling patients of a second family with atypical NKH had two different missense mutations in the T-protein gene (compound heterozygote), a G-to-A transition leading to a Gly-to-Arg substitution at amino acid 47 (G47R) in one allele, and a G-to-A transition leading to an Arg-to-His substitution at amino acid 320 (R320H) in the other allele. Gly 269 is conserved in T-proteins of various species, even in E. coli, whereas Gly 47 and Arg 320 are replaced by Ala and Leu, respectively, in E. coli. The mutation occurring in more conservative amino acid residues thus results in more deleterious damage to the T-protein, and gives the severe clinical phenotype, viz., typical NKH.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00201565
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  • 6
    Electronic Resource
    Electronic Resource
    Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: Long-term outcome in a case with neonatal onset (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 568-572 
    Details
    ISSN: 1432-1076
    Keywords: Isolated 3-methylcrotonyl-CoA carboxylase deficiency ; Inborn errors of metabolism ; Biotin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A patient with early-onset 3-methylcrotonyl coenzyme A carboxylase (MCC) deficiency showing a severe clinical course is described. Abnormal eye and head movements suggestive of seizures were noticed soon after birth. Tonic convulsions at the age of 10 weeks led to admission. Urinary organic acid analysis using gas chromatography-mass spectrometry at 3 months of age revealed elevated concentrations of 3-hydroxyisovaleric acid (3HIVA) and 3-methylcrotonylglycine but normal levels of lactate, 3-hydroxypropionate and methylcitrate suggesting isolated MCC deficiency. This was confirmed by enzyme assays in lymphocytes and cultured skin fibroblasts: MCC activity was virtually undetectable whereas activities of propionyl-CoA and pyruvate carboxylases were within the normal range. A low protein (0.8–1.5 g/kg/day) diet supplemented with a leucine-free amino acid mixture resulted in a marked decrease of 3HIVA excretion.l-Carnitine and biotin administration had no effect on the clinical condition or metabolite exretion. Supplementation with glycine resulted in only a temporary fall of 3HIVA excretion and was therefore discontinued.l-Carnitine therapy was reintroduced later because of secondary carnitine deficiency. Compliance with treatment was poor until the age of 27 months resulting in a severe episode with seizures and coma. The general clinical condition of the patient was always good but his psychomotor development was delayed and seizures were not continuously under good control due to poor therapy compliance. The boy is now 10.5 years old and attending a school for children with learning handicaps.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957906
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  • 7
    Electronic Resource
    Electronic Resource
    Partial 3-methylcrotonyl-CoA carboxylase deficiency in an infant with fatal outcome due to progressive respiratory failure (1998)
    Springer
    European journal of pediatrics 157 (1998), S. 225-229 
    Details
    ISSN: 1432-1076
    Keywords: Key words Partial isolated MCC deficiency ; Organic aciduria ; Lethal outcome ; Inborn error of leucine metabolism
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Isolated partial 3-methylcrotonyl-CoA carboxylase (MCC) deficiency has been described to be the cause for a distinct relatively mild clinical picture in a single patient. We describe another patient with isolated partial MCC deficiency who suffered from failure to thrive, muscular hypotonia and progressive respiratory insufficiency with fatal outcome at the age of 6.5 months. MCC deficiency was suspected at 3 months of age on the basis of mildly elevated urinary excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine and confirmed by enzyme analysis in lymphocyte and fibroblast homogenates. Residual MCC activity in lymphocytes was 25% of the mean normal value. Residual activity in fibroblasts was lower than in lymphocytes (3.8% of mean normal) and not significantly different from that in patients with complete MCC deficiency. However, the residual incorporation of 14C-isovalerate into macromolecules in intact fibroblasts, was clearly higher (28% of mean normal) than in fibroblasts with complete MCC deficiency (〈4%). In both patients with partial deficiency the residual MCC activity was higher in lymphocytes than in fibroblasts. Clinical symptoms and signs in our patient attributable to MCC deficiency include muscular hypotonia, failure to thrive (already present at birth), progressive respiratory failure due to diaphragmatic paresis and a moderate brain atrophy. The clinical presentation was more severe than in many patients with complete MCC deficiency. Dietary therapy was biochemically effective as shown by normalization of organic acid excretion, however, had no effect on the CNS symptoms. Conclusion We speculate that the severity of the disease could be related primarily to deficiency of MCC activity in the brain. Variable MCC activity among various organs may explain the peculiar clinical picture in this patient.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004310050800
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  • 8
    Electronic Resource
    Electronic Resource
    Intestinal absorption and renal excretion of biotin in patients with biotinidase deficiency (1985)
    Springer
    European journal of pediatrics 144 (1985), S. 21-26 
    Details
    ISSN: 1432-1076
    Keywords: Intestinal absorption of biotin ; Renal excretion of biotin ; Biotinidase deficiency ; Carboxylase activities in lymphocytes
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We have investigated four patients from three unrelated families with typical clinical and biochemical features of “late-onset” multiple carboxylase deficiency. All patients suffered from biotinidase deficiency (plasma biotinidase activities 1.4%–3% of normal). Intestinal absorption of biotin, measured in three of the patients using a single load of 1.5 μg/kg, was found to be normal. Deficient activities of the mitochondrial biotin-dependent carboxylases in lymphocytes of one of these patients increased from 25% of mean basal control values to 33%–36% within 45 min and to 46%–47% within 2 h of the 1.5 μg/kg biotin load. After a high biotin load of 100 μg/kg, the values normalised within 45 min in all three patients studied. These results indicate normal cellular transport of biotin and normal holocarboxylase synthesis. After cessation of biotin supplementation, the plasma and urinary biotin in patients decreased to subnormal levels. In one patient, available for more detailed studies, both plasma and urinary biotin declined about twice as fast as in controls (apparent half-life 12–14 h in the patient and 26 h in controls). These results point to increased excretion of free biotin in our patient. Renal loss of biotin is one of the factors contributing to the high biotin requirement observed in patients with biotinidase deficiency.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00491919
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  • 9
    Electronic Resource
    Electronic Resource
    Symmetrical necrosis of the basal ganglia in methylmalonic acidaemia (1990)
    Springer
    European journal of pediatrics 149 (1990), S. 582-584 
    Details
    ISSN: 1432-1076
    Keywords: Methylmalonic acidaemia ; Basal ganglia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In a patient with methylmalonic acidaemia (MMAA), persistent neurological symptoms were observed in addition to the acute episodes of metabolic dysequilibrium. CT scan and magnetic resonance imaging revealed bilateral symmetrical necrosis of the globus pallidus. Different episodes of metabolic decompensation, one with severe acidosis, had occurred. Persistent neurological symptoms in patients with MMAA who are appropriately treated suggest irreversible brain damage which appears to occur preferentially at the level of the basal ganglia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957698
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  • 10
    Electronic Resource
    Electronic Resource
    Holocarboxylase synthetase deficiency: Early diagnosis and management of a new case (1993)
    Springer
    European journal of pediatrics 152 (1993), S. 446-449 
    Details
    ISSN: 1432-1076
    Keywords: Holocarboxylase synthetase deficiency ; Multiple carboxylase deficiency ; Organic aciduria ; Biotin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We present a new case of holocarboxylase synthetase (HCS) deficiency, a rare autosomal recessive metabolic disorder, causing the “early-onset” form of multiple carboxylase deficiency. The patient was born at term of healthy consanguineous parents after an uncomplicated pregnancy. On the 2nd day of life she refused oral feeding, became tachydyspnoeic and showed excessive weight loss. Laboratory studies showed metabolic acidosis, marked lactic acidaemia, hyperammonaemia and increased urinary excretion of 3-hydroxyisovaleric acid, 3-methylcrotonyglycine, 3-hydroxypropionic acid and methylcritric acid. Peritoneal dialysis combined with oral supplementation of biotin (10 mg/day) started on the 3rd day of life resulted in rapid clinical recovery and normalisation of biochemical parameters. HCS deficiency was established in lymphocytes and skin fibroblasts. The activities of all biotin-dependent carboxylases were severely decreased in fibroblasts grown in medium with moderate biotin concentration (10−8 mol/l) but normal in a high biotin medium (10−5 mol/l). Mitochondrial carboxylase activities in lymphocytes were 23%–29% of mean normal during therapy with 20 mg of biotin/day, with the higher dose of 40 mg/day they were within (3-methylcrotoryl-CoA carboxylase, pyruvate carboxylase) or slightly below (propionyl-CoA carboxylase) the normal range. At the age of 3 years the patient's physical and psychomotor development are normal. Early biotin supplementation should be considered in newborns with lactic acidosis and organoaciduria until a final diagnosis has been established. Furthermore, the required individual dose of biotin has to be carefully evaluated biochemically for the individual patient.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01955908
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