Brian Fowler

发表

Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy

T. Suormala, E. R. Baumgartner, M. Durán, 1998, European Journal of Pediatrics.

A patient with severe type of epimerase deficiency galactosaemia

J. Wraith, S. Roberts, B. Fowler, 1988, Journal of Inherited Metabolic Disease.

Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD

L. Zoetekouw, R. Hennekam, J. Bierau, 2010, Nucleosides, nucleotides & nucleic acids.

Recent advances in the mechanism of pyridoxine-responsive disorders

B. Fowler, Brian Fowler, 1985, Journal of Inherited Metabolic Disease.