Year: 1977
Type: article
Study design: Case Report
Abstract: We report a child with classical galactosaemia whose diagnosis was missed until 12 weeks of age. The limitations of urine screening tests are discussed and the wider use of a qualitative enzyme assay for screening is recommended. Reference ranges for a quantitative enzyme assay using 14galacoste-1-phosphate as substrate are presented.
Source: Archives of Disease in Childhood
Authors: A M Monk, A J Mitchell, D W Milligan, J B Holton
Institutions: Musgrove Park Hospital, Southmead Hospital
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W2039870797