National Referral Laboratory

Recent Publications

Kohan, R., Cismondi, I.A., Dodelson Kremer, R., Muller, V.J., Guelbert, N., Tapia Anzolini, V., Fietz, M.J., Oller Ramirez, A.M., and Noher Halac, I. (2009). An integrated strategy for the diagnosis of Neuronal Ceroid Lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients. Clin. Genet., in press.

Shanti, B., Silink, M., Bhattacharya, K., Howard, N.J., Carpenter, K.H., Fietz, M., Clayton, P.T., and Christodoulou, J. (2009). Congenital Disorder of Glycosylation type 1a: Hyperinsulinaemic hypoglycemia as a leading symptom in three infants with phosphomannomutase deficiency. J. Inherit. Met. Dis., in press.

Abel, L.A., Walterfang, M., Fietz, M., Bowman, E.A., and Velakoulis, D. (2009). Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits. Neurology 72:1083-1086.

Thong, M.K., Fietz, M., Nicholls, C., Lee, M.-H., and Asma, O. (2009). Congenital disorder of glycosylation type 1a in a Malaysian family: Clinical outcome and description of a novel PMM2 mutation. J. Inherit. Met. Dis., Short report #150, Online.

Walterfang, M., Evans, A.H., Fietz, M., and Velakoulis, D. (2008). Images in neuroscience: psychosis and vertical supranuclear opthalmoplegia. J Clin Neurosci 15:370-371.

Coman, D., Bostock, D., Hunter, M., Kannu, P., Irving, M., Mayne, V., Fietz, M., Jaeken, J., and Savarirayan, R. (2008). Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia. Am J Med Genet A 146:389-392.

McKenzie, F.A., Fietz, M., Fletcher, J., Smith, R.L.L., Wright, I.M.R., and Jaeken, J. (2007). A previously undescribed form of congenital disorder of glycosylation with variable presentation in siblings: Early fetal loss with hydrops fetalis, and infant death with hypoproteinemia. Am J Med Genet A, 143A:2029-2034.

Edwards, M., McKenzie, F., O'Callaghan, S., Somerset, D., Woodford, P., Spilsbury, J., Fietz, M., and Fletcher, J. (2006). Prenatal diagnosis of congenital disorder of glycosylation type Ia (CDG-Ia) by cordocentesis and transferrin isoelectric focussing of serum of a 27-week fetus with non-immune hydrops. Prenat Diagn 26:985-988.

Walterfang, M., Fietz, M., Fahey, M., Sullivan, D., Leane, P., Lubman, D.I., and Velakoulis, D. (2006). The neuropsychiatry of Niemann-Pick type C disease in adulthood. J. Neuropsychiatry Clin. Neurosci. 18:158-170.

Meikle, P.J., Grasby, D.J., Dean, C.J., Lang, D.L., Bockmann, M., Whittle, A.M., Fietz, M.J., Simonsen, H., Fuller, M., Brooks, D.A., and Hopwood, J.J. (2006). Newborn screening for lysosomal storage disorders. Mol. Genet. Metab. 88:307-314.

Byers, S., Lee, J., Fietz, M., and Thomas, B. (2005). Characterisation of human hyaluronidase 1. In Hyaluronan: Its Structure, Metabolism, Biological Activities and Therapeutic Applications. Volume 1. Balazs, E.A., and Hascall, V.C., eds. MBI Press. pp. 225-228.

Yang, C.C., Su, Y.N., Chiou, P.C., Fietz, M.J., Yu, C.L., Hwu, W.L., and Lee, M.J. (2005). Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C. J. Neurol. Neurosurg. Psychiatry 76(4):592-595.

Meikle, P.J., Fietz, M.J., and Hopwood, J.J. (2004). Diagnosis of lysosomal storage disorders: current techniques and future directions. Expert Rev. Mol. Diagn. 4(5):677-691.

Nicholls, C.M., Nelson, P.V., Poplawski, N.K., Chin, S.J., Fong, B.A., Solly, P.B., Fietz, M.J., and Fletcher, J.M. (2003). Analysis of CFTR mutation screening in cases of isolated fetal echogenic bowel in the South Australian population. Prenat. Diagn. 23:1023-1025.

Whitfield, P.D., Nelson, P., Sharp, P.C., Bindloss, C.A., Dean, C., Ravenscroft, E.M., Fong, B.A., Fietz, M.J., Hopwood, J.J., and Meikle, P.J. (2002). Correlation among genotype, phenotype, and biochemical markers in Gaucher Disease: implications for the prediction of disease severity. Mol. Genet. Metab. 75:46-55.

Paton, B.C., Solly, P.B., Nelson, P.V., Pollard, A.N., Sharp, P.C., and Fietz, M.J. (2002). Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency. Prenat. Diagn. 22:38-41.

Kelly, D.F., Boneh, A., Pitsch, S., Gold, H., Fietz, M., Nelson, P., and Oliver, M.R. (2001). Carbohydrate-deficient glycoprotein syndrome 1b: A new answer to an old diagnostic dilemma. J Paediatr. Child Health 37:510-512.

Evans, T., Poh, A., Webb, C., Wainwright, B., Wicking, W., Glass, I., Carey, W.F., and Fietz, M. (2001). Novel mutation in the D7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz Syndrome. Am. J. Med. Genet. 103:344-347.

Muller, V.J., Paton, B,C., and Fietz, M.J. (2001). An Australian diagnostic service for the neuronal ceroid lipofuscinoses. Eur. J. Paed. Neurol. 5(Suppl A):197-201.

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