Routine Chromatographic screening of filter-paper urine specimens identified histidinemia
in 20 newborn infants, or 1: 20,000 in a screened population of 400,488. This relatively high …

Seven subjects with raised plasma histidine and low skin histidase levels (histidinaemia) are
described: 4 were severely retarded, 2 showing in addition features of an early infantile …

Four unrelated children with histidinemia (histidase deficiency) were studied specifically for
characteristics of speech and language. Two of the children with normal intelligence were …

Histidemia, first described by Ghadimi in 1961, is caused by a defect in histidase. The defect
results in elevated urinary excretion of histidine and its transamination products, and in high …

Major advances have been made in the elucidation of the molecular pathologies of inherited
metabolic diseases during the past two decades. The clinical and pathophysiologic …

Time was when histidinemia was considered a rare, exotic entity, relegated to specialists
and academic researchers. However, there are mounting reasons for revising this attitude …

L-histidine ammonia-lyase (histidase) was encapsulated within cellulose nitrate artificial
cells, and its kinetic parameters were evaluated. Microencapsulated histidase had an …

Holmgren, G., Hamhræus, L. and de Chateau, P.(Departments of Paediatrics, University
Hospitals, Umeå and Uppsala and the Department of Nutrition, University of Uppsala …

In 1961 Ghadimi, Partington and Hunter first described elevated blood and urinary levels of
histidine in two sisters and proposed that they had a new inborn error of histidine …

A large number of genetic disorders of amino acid metabolism are coupled with neurologic
symptoms, most commonly mental retardation. In many of these conditions, notably …