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Biomedical subjects

W Schenck

Publications and source records attributed to W Schenck.

At least 19 recordsLinked to original sources
PubMed1994

A novel homozygous missense mutation (Val 325-->Ala) in the protein C gene causing neonatal purpura fulminans.

A novel homozygous GTG-->GCG (Val 325-->Ala) substitution was detected in the protein C gene of a newborn causing severe purpura fulminans post partum. In the consanguineous parents and two further infants a heterozygous type 1 protein C deficiency was found. Up to now the heterozygous individuals are clinically unaffected. The mutation co-segregates with the protein C deficiency state. It creates a restriction enzyme (Sac II) cleavage site.

Base Sequence↗
PubMed1986

[Restrictive cardiomyopathy as a late sequel of influenza A2 virus myocarditis].

A clinically acute myocarditis with an increase of the influenza A2-virus titer marks the beginning of a ten year history leading to a restrictive cardiomyopathy, complicated by an exudative enteropathy. Two serial endomyocardial biopsies reveal an increasing interstitial fibrosis. Virus myocarditis as a cause of restrictive cardiomyopathy, which corresponds to the old term "myocardial fibrosis", is discussed.

Adolescent↗
PubMed1979

[Isovaleric acidemia combined with hypertrophic pylorstenosis (author's transl)].

A case of isovaleric acidemia combined with hypertrophic pylorostenosis is described. The diagnostic procedure, the biochemical findings as well as the performed therapy are discussed. Additionally the patient was successfully operated upon a pyloromyotomy. Thus the patient suffered form two conditions which are always to be considered in terms of differential diagnosis.

Amino Acid Metabolism, Inborn Errors↗