B Steinmann

Structural aberrations of chromosome 18. I. The 18p-syndrome

Albert Schinzel, Werner Schmid, U Lüscher et al. · PubMed · 1974 · 37 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Nonketotic hyperglycinemia treated with strychnine, a glycine receptor antagonist.

R Gitzelmann, B Steinmann, Anne Otten et al. · PubMed · 1978 · 36 citations

Life Sciences, Neuroscience, Pharmacology +16

Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide.

A. Niederwieser, B Steinmann, Ulrich Exner et al. · PubMed · 1983 · 35 citations

Life Sciences, Biochemistry, Cardiology +13

[Dermatosparaxis in a foal and a cow--a rare disease?].

P. Witzig, Maja M. Suter, Peter J. Wild et al. · PubMed · 1984 · 14 citations

Medicine, Dermatology, Veterinary Dermatology +5

[Infantile cataract, hypertrophic cardiomyopathy and lactic acidosis following minor muscular exertion--a little known metabolic disease].

Lalive d'Epinay S, Silvana K. Rampini, U Arbenz et al. · PubMed · 1986 · 10 citations

Medicine, Ophthalmology, Pediatrics +13