PubMed Health⌕ Search

Biomedical subjects

J Ehrich

Publications and source records attributed to J Ehrich.

11 recordsLinked to original sources
PubMed2001

Development and initial experience with the new "exposure database of the federal states".

The Workgroup of the State Measuring Authorities for Chemical Occupational Safety (ALMA) was established in 1987 by the State Committee for Occupational Safety and Safety Technology (LASI) for the purpose of exchanging experiences between the measuring institutes and authorities of the federal states supporting the commercial regulation authorities in the field of dangerous materials. A workgroup was assigned by ALMA in 1995 to determine the theoretical and practical basis for the establishment of an exposure database commonly available to the federal states. In the first stage, the theoretical data structure of the planned database was defined. The purpose of this was to ensure the exchange of exposure data between the federal states in the future and to allow common evaluation of the data. In the second stage, the practical benefits of the database were determined in a trial run. This database makes possible and simplifies the documentation of both the exposure measurements of the state measuring authorities and also those of external (private) measuring bodies.

Databases, Factual↗
PubMed1999

Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.

Thirty newly detected mutations in the PHEX gene are reported, and pooled with all the previously published mutations. The spectrum of mutations displayed 16% deletions, 8% insertions, 34% missense, 27% nonsense, and 15% splice site mutations, with two peaks in exon 15, and 17. Since 32.8% of PHEX amino acids were conserved in the endopeptidases family, the number of missense mutations detected at non-conserved residues was smaller than expected, whereas the number of nonsense mutations observed at non-conserved residues was very close to the expected number. Compared with conserved amino acids, the changes in non-conserved amino acids may result in benign polymorphisms or possibly mild disease that may go undiagnosed.

Exons↗
PubMed1986

Congenital muscular dystrophy with cerebral and ocular malformations (cerebro-oculo-muscular syndrome).

Two children with the features of the "Muscle, Eye and Brain (MEB) Disease" (SANTAVUORI 1977), i.e. congenital muscular dystrophy (CMD), cerebral malformations and ocular abnormalities are reported and correlations with other inherited autosomal recessive syndromes of CMD, Fukuyama type of CMD and the Walker-Warburg syndrome discussed. The association of CMD and cerebral lesions indicate an unfavourable clinical prognosis.

Abnormalities, Multiple↗