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Myoadenylate deaminase deficiency with severe rhabdomyolysis (1993)

Baumeister, F. A. M. ; Gross, M. ; Wagner, D. R. ; [et al.]

Springer

European journal of pediatrics 152 (1993), S. 513-515

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ISSN: 1432-1076

Keywords: Myoadenylate deaminase deficiency ; Rhabdomyolysis ; DNA-analysis

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract A 13-year-old Turkish girl was admitted because of recurrent episodes of muscle pain and weakness since the age of 5 years. As an outpatient she developed severe acute rhabdomyolysis (myoglobinuria and increased serum creatine kinase level of 19000 units/l). The acute rhabdomyolysis and the preceding episodes of muscle pain and weakness had been induced by exercise. There was no increase in plasma ammonia level during ischaemic forearm exercise test and bicycle ergometry. Myoadenylate deaminase deficiency was proven both histochemically and biochemically. The girl was found to be homozygous for the C 34-T mutation of the AMPD1 gene causing primary myoadenylate deaminase deficiency in skeletal muscle. Both parents and her brother were heterozygous for that mutation. Myoadenylate deaminase deficiency has to be considered as a cause of severe rhabdomyolysis.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF01955062

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Amalgam electrodes: Direct electrochemical generation of cadmium macrocyclic complexes (1992)

Boudon, C. ; Gisselbrecht, J. P. ; Gross, M.

Weinheim : Wiley-Blackwell

Electroanalysis 4 (1992), S. 19-26

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ISSN: 1040-0397

Keywords: Amalgam electrode ; cadmium ; macrocyclic complexes ; Chemistry ; Polymer and Materials Science

Source: Wiley InterScience Backfile Collection 1832-2000

Topics: Chemistry and Pharmacology

Notes: The electrochemical oxidation of cadmium amalgam was studied in the nonaqueous solvents CH2Cl2, 1,2-C2H4Cl2 and propylene carbonate. Significant coordination effects were observed between the electrogenerated Cd(II) ions and 18-membered macromonocyclic ligands, each containing six Lewis bases heteroatoms: 18-O6, 18-S6, 18-N2O4, and 18-N6. The stoichiometries and the stabilities of the resulting complexes were determined. These stabilities increase from 18-O6 or 18-S6 to 18-N6.

Additional Material: 3 Ill.