Fietz M - Search Results

1

Carbohydrate-deficient glycoprotein syndrome 1b: a new answer to an old diagnostic dilemma.

Kelly DF, Boneh A, Pitsch S, Gold H, Fietz M, Nelson P, Oliver MR. Kelly DF, et al. Among authors: fietz m. J Paediatr Child Health. 2001 Oct;37(5):510-2. doi: 10.1046/j.1440-1754.2001.00671.x. J Paediatr Child Health. 2001. PMID: 11885720

2

Molecular analysis of genomic DNA allows rapid, and accurate, prenatal diagnosis of peroxisomal D-bifunctional protein deficiency.

Paton BC, Solly PB, Nelson PV, Pollard AN, Sharp PC, Fietz MJ. Paton BC, et al. Among authors: fietz mj. Prenat Diagn. 2002 Jan;22(1):38-41. doi: 10.1002/pd.233. Prenat Diagn. 2002. PMID: 11810648

3

The natural history and osteodystrophy of mucolipidosis types II and III.

David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, Savarirayan R, Wilson M, McGill J, Edwards M, Munns C, Alcausin M, Cathey S, Sillence D. David-Vizcarra G, et al. Among authors: fietz m. J Paediatr Child Health. 2010 Jun;46(6):316-22. doi: 10.1111/j.1440-1754.2010.01715.x. Epub 2010 Mar 29. J Paediatr Child Health. 2010. PMID: 20367762 Free PMC article.

4

Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity.

Whitfield PD, Nelson P, Sharp PC, Bindloss CA, Dean C, Ravenscroft EM, Fong BA, Fietz MJ, Hopwood JJ, Meikle PJ. Whitfield PD, et al. Among authors: fietz mj. Mol Genet Metab. 2002 Jan;75(1):46-55. doi: 10.1006/mgme.2001.3269. Mol Genet Metab. 2002. PMID: 11825063

5

Neuronal ceroid lipofuscinosis type 2: an Australian case series.

Johnson AM, Mandelstam S, Andrews I, Boysen K, Yaplito-Lee J, Fietz M, Nagarajan L, Rodriguez-Casero V, Ryan MM, Smith N, Scheffer IE, Ellaway C. Johnson AM, et al. Among authors: fietz m. J Paediatr Child Health. 2020 Aug;56(8):1210-1218. doi: 10.1111/jpc.14890. Epub 2020 Apr 24. J Paediatr Child Health. 2020. PMID: 32329550 Free PMC article.

6

Analysis of CFTR mutation screening in cases of isolated fetal echogenic bowel in the South Australian population.

Nicholls CM, Nelson PV, Poplawski NK, Chin SJ, Fong BA, Solly PB, Fietz MJ, Fletcher JM. Nicholls CM, et al. Among authors: fietz mj. Prenat Diagn. 2003 Dec 15;23(12):1023-5. doi: 10.1002/pd.731. Prenat Diagn. 2003. PMID: 14663844 No abstract available.

7

Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.

Shanti B, Silink M, Bhattacharya K, Howard NJ, Carpenter K, Fietz M, Clayton P, Christodoulou J. Shanti B, et al. Among authors: fietz m. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S241-51. doi: 10.1007/s10545-009-1180-2. Epub 2009 Apr 27. J Inherit Metab Dis. 2009. PMID: 19396570

8

Ashkenazi Jewish population screening for Tay-Sachs disease: the international and Australian experience.

Lew RM, Burnett L, Proos AL, Barlow-Stewart K, Delatycki MB, Bankier A, Aizenberg H, Field MJ, Berman Y, Fleischer R, Fietz M. Lew RM, et al. Among authors: fietz m. J Paediatr Child Health. 2015 Mar;51(3):271-9. doi: 10.1111/jpc.12632. Epub 2014 Jun 13. J Paediatr Child Health. 2015. PMID: 24923490 Review.

9

Hypertrophic cardiomyopathy with cardiac rupture and tamponade caused by congenital disorder of glycosylation type Ia.

Rudaks LI, Andersen C, Khong TY, Kelly A, Fietz M, Barnett CP. Rudaks LI, et al. Among authors: fietz m. Pediatr Cardiol. 2012 Jun;33(5):827-30. doi: 10.1007/s00246-012-0214-y. Epub 2012 Feb 29. Pediatr Cardiol. 2012. PMID: 22374380

10

An Australasian diagnostic service for the neuronal ceroid lipofuscinoses.

Muller VJ, Paton BC, Fietz MJ. Muller VJ, et al. Among authors: fietz mj. Eur J Paediatr Neurol. 2001;5 Suppl A:197-201. doi: 10.1053/eipn.2000.0462. Eur J Paediatr Neurol. 2001. PMID: 11588997

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