A. Whitfield

发表

Variability of acid hydrolase activities in cultured skin fibroblasts and amniotic fluid cells.

E. Young, A. D. Patrick, P. Willcox, 1975, Journal of medical genetics.

Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemia

J. Leonard, M. Pourfarzam, A. Aynsley-Green, 1995, Journal of Inherited Metabolic Disease.

FETAL LIVER BIOPSY FOR PRENATAL DIAGNOSIS OF ORNITHINE CARBAMYL TRANSFERASE DEFICIENCY

M. Pembrey, C. Rodeck, A. D. Patrick, 1982, The Lancet.

A case of myopathy associated with a dystrophin gene deletion and abnormal glycogen storage

M. Rose, J. Morgan-Hughes, S. Genet, 1993, Muscle & nerve.

Metachromatic leucodystrophy: review of 38 cases.

R. Macfaul, B. Lake, R. Stephens, 1982, Archives of disease in childhood.

Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies.

A. Clarke, P. Harper, N. Thomas, 1986, Journal of medical genetics.

DELETION ON THE X CHROMOSOME DETECTED BY DIRECT DNA ANALYSIS IN ONE OF TWO UNRELATED BOYS WITH GLYCEROL KINASE DEFICIENCY, ADRENAL HYPOPLASIA, AND DUCHENNE MUSCULAR DYSTROPHY

M. Pembrey, D. Dunger, K. Davies, 1986, The Lancet.

Measurement of L-histidine ammonia-lyase activity and urocanic acid content of human skin.

A. Whitfield, J. Shepherd, 1970, Clinica chimica acta; international journal of clinical chemistry.

Galactosemia and Alpha-1- antitrypsin Deficiency

G. Rumsby, M. Hjelm, V. de Silva, 1985, Clinical pediatrics.

Glycogen phosphorylase b kinase deficiency in three siblings

R. Gray, D. Kumar, A. Whitfield, 1983, Journal of Inherited Metabolic Disease.