W. Carey

发表

Prevalence of lysosomal storage disorders.

P. Meikle, J. Hopwood, A. Clague, 1999, JAMA.

Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype.

C. P. Morris, W. Carey, J. S. Harvey, 1998, Human molecular genetics.

Neonatal screening strategy for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis

E. Ranieri, W. Carey, A. Pollard, 1992, BMJ.

FIRST‐TRIMESTER DIAGNOSIS OF SMITH–LEMLI–OPITZ SYNDROME

E. Haan, J. Fletcher, T. Khong, 1997, Prenatal Diagnosis.

Diagnosis of Tay-Sachs disease using [3H]N-acetylneuraminic acid labelled GM2 ganglioside as substrate.

A. Poulos, W. Carey, J. Holding, 1982, Clinica chimica acta; international journal of clinical chemistry.

Pitfalls in the prenatal diagnosis of peroxisomal β‐oxidation defects by chorionic villus sampling

A. Poulos, E. Robertson, W. Carey, 1994, Prenatal diagnosis.

Formic acid is a product of the alpha-oxidation of fatty acids by human skin fibroblasts: deficiency of formic acid production in peroxisome-deficient fibroblasts.

D. Johnson, A. Poulos, C. Easton, 1993, The Biochemical journal.

Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.

K. Lukong, A. Pshezhetsky, G. Thomas, 2000, Human molecular genetics.

Prenatal diagnosis of zellweger's syndrome by chorionic villus sampling‐and a caveat

A. Poulos, E. Robertson, W. Carey, 1986, Prenatal diagnosis.

Prenatal diagnosis of Zellweger syndrome and related disorders: Impaired degradation of phytanic acid

B. Poll-The, A. Poulos, E. Christensen, 1986, European Journal of Pediatrics.

A common PEX1 frameshift mutation in patients with disorders of peroxisome biogenesis correlates with the severe Zellweger syndrome phenotype

D. Crane, M. A. Maxwell, P. V. Nelson, 1999, Human Genetics.

McArdle's disease presenting with rhabdomyolysis.

A. J. Bourne, A. Disney, W. Carey, 1984, Australian and New Zealand journal of medicine.

The mucopolysaccharidoses: Clinical and biochemical experience at the adelaide children’s hospital

J. Hopwood, W. Carey, V. Muller, 1981 .

Chorionic villus sampling

A. Pollard, W. Carey, G. Finikiotis, 1985 .

Prenatal diagnosis of mucolipidosis II—electron microscopy and biochemical evaluation

B. A. Fong, W. Carey, M. Richardson, 1999, Prenatal diagnosis.

Cystic fibrosis prenatal diagnosis: Confirmation of an equivocal microvillar enzyme result by direct analysis of the common gene mutation

C. P. Morris, W. Carey, P. Nelson, 1990, Prenatal diagnosis.

A case of combined Farber and Sandhoff disease

H. Moser, A. Sewell, A. Poulos, 1989, European Journal of Pediatrics.

Biochemical diagnosis of cystic fibrosis

W. Carey, A. Pollard, 1983, The Medical journal of Australia.

Prenatal diagnosis of cystic fibrosis

A. Pollard, W. Carey, A. Pollard, 1982, The Medical journal of Australia.

Arylsulfatase A lysosomal enzyme Map position 22q13.3

C. P. Morris, W. Carey, J. S. Harvey, 1996, Chromosome Research.

Frequency of intron 8 CFTR polythymidine sequence variant in neonatal blood specimens

E. Ranieri, W. Carey, P. Nelson, 1997, The Lancet.

FIRST‐TRIMESTER DIAGNOSIS OF SMITH–LEMLI–OPITZ SYNDROME

E. Haan, J. Fletcher, T. Khong, 1997, Prenatal diagnosis.

ALKALINE PHOSPHATASE INDUCTION IN CYSTIC FIBROSIS FIBROBLASTS

W. Carey, A. Pollard, 1979, The Medical journal of Australia.