Lanean...

Diagnosis of classical galactosaemia.

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-p...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Monk, A M, Mitchell, A J, Milligan, D W, Holton, J B
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 1977
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1545032/
https://ncbi.nlm.nih.gov/pubmed/606167
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!