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Items: 1 to 50 of 56

1.

A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement.

Lan NSR, Fietz M, Pachter N, Paul V, Playford D.

Cardiovasc Pathol. 2018 Jul - Aug;35:48-51. doi: 10.1016/j.carpath.2018.04.006. Epub 2018 Apr 24.

PMID:
29778910
2.

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.

Fietz M, AlSayed M, Burke D, Cohen-Pfeffer J, Cooper JD, Dvořáková L, Giugliani R, Izzo E, Jahnová H, Lukacs Z, Mole SE, Noher de Halac I, Pearce DA, Poupetova H, Schulz A, Specchio N, Xin W, Miller N.

Mol Genet Metab. 2016 Sep;119(1-2):160-7. doi: 10.1016/j.ymgme.2016.07.011. Epub 2016 Jul 25.

3.

What's Wrong with the Transferrin?

Wijeratne N, Tudball R, Choy KW, Fietz M, Doery JC.

Clin Chem. 2016 Feb;62(2):413-4. doi: 10.1373/clinchem.2015.241083. No abstract available.

4.

Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1.

Jacobsen JC, Glamuzina E, Taylor J, Swan B, Handisides S, Wilson C, Fietz M, van Dijk T, Appelhof B, Hill R, Marks R, Love DR, Robertson SP, Snell RG, Lehnert K.

Case Rep Genet. 2015;2015:454526. doi: 10.1155/2015/454526. Epub 2015 Oct 26.

5.

A novel mutation af Cln3 associated with delayed-classic juvenile ceroid lipofuscinois and autophagic vacuolar myopathy.

Licchetta L, Bisulli F, Fietz M, Valentino ML, Morbin M, Mostacci B, Oliver KL, Berkovic SF, Tinuper P.

Eur J Med Genet. 2015 Oct;58(10):540-4. doi: 10.1016/j.ejmg.2015.09.002. Epub 2015 Sep 7.

PMID:
26360874
6.

Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).

Choy YS, Bhattacharya K, Balasubramaniam S, Fietz M, Fu A, Inwood A, Jin DK, Kim OH, Kosuga M, Kwun YH, Lin HY, Lin SP, Mendelsohn NJ, Okuyama T, Samion H, Tan A, Tanaka A, Thamkunanon V, Thong MK, Toh TH, Yang AD, McGill J.

Mol Genet Metab. 2015 May;115(1):41-7. doi: 10.1016/j.ymgme.2015.03.005. Epub 2015 Mar 26.

PMID:
25892708
7.

Overcoming the barriers to diagnosis of Morquio A syndrome.

Bhattacharya K, Balasubramaniam S, Choy YS, Fietz M, Fu A, Jin DK, Kim OH, Kosuga M, Kwun YH, Inwood A, Lin HY, McGill J, Mendelsohn NJ, Okuyama T, Samion H, Tan A, Tanaka A, Thamkunanon V, Toh TH, Yang AD, Lin SP.

Orphanet J Rare Dis. 2014 Nov 30;9:192. doi: 10.1186/s13023-014-0192-7.

8.

A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases.

Leadley RM, Lang S, Misso K, Bekkering T, Ross J, Akiyama T, Fietz M, Giugliani R, Hendriksz CJ, Hock NL, McGill J, Olaye A, Jain M, Kleijnen J.

Orphanet J Rare Dis. 2014 Nov 18;9:173. doi: 10.1186/s13023-014-0173-x. Review.

9.

Klinefelter syndrome with fabry disease--a case of nondisjunction of the X-chromosome with sex-linked recessive mutation.

Sadick VJ, Fietz MJ, Tchan MC, Kovoor P, Thomas L, Sadick N.

Heart Lung Circ. 2014 Dec;23(12):1149-52. doi: 10.1016/j.hlc.2014.07.056. Epub 2014 Jul 16.

PMID:
25086909
10.

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.

J Paediatr Child Health. 2015 Mar;51(3):271-9. doi: 10.1111/jpc.12632. Epub 2014 Jun 13. Review.

PMID:
24923490
11.

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.

Morrone A, Tylee KL, Al-Sayed M, Brusius-Facchin AC, Caciotti A, Church HJ, Coll MJ, Davidson K, Fietz MJ, Gort L, Hegde M, Kubaski F, Lacerda L, Laranjeira F, Leistner-Segal S, Mooney S, Pajares S, Pollard L, Ribeiro I, Wang RY, Miller N.

Mol Genet Metab. 2014 Jun;112(2):160-70. doi: 10.1016/j.ymgme.2014.03.004. Epub 2014 Mar 20. Erratum in: Mol Genet Metab. 2014 Nov;113(3):237.

12.

Diagnosing mucopolysaccharidosis IVA.

Wood TC, Harvey K, Beck M, Burin MG, Chien YH, Church HJ, D'Almeida V, van Diggelen OP, Fietz M, Giugliani R, Harmatz P, Hawley SM, Hwu WL, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson JN, Tylee K, Yu C, Hendriksz CJ.

J Inherit Metab Dis. 2013 Mar;36(2):293-307. doi: 10.1007/s10545-013-9587-1. Epub 2013 Feb 1.

13.

Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews.

Lew RM, Proos AL, Burnett L, Delatycki M, Bankier A, Fietz MJ.

Med J Aust. 2012 Dec 10;197(11):652-4.

PMID:
23230938
14.

Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.

Ravenscroft G, Thompson EM, Todd EJ, Yau KS, Kresoje N, Sivadorai P, Friend K, Riley K, Manton ND, Blumbergs P, Fietz M, Duff RM, Davis MR, Allcock RJ, Laing NG.

Neuromuscul Disord. 2013 Feb;23(2):165-9. doi: 10.1016/j.nmd.2012.11.005. Epub 2012 Dec 3.

PMID:
23218673
15.

Expert recommendations for the laboratory diagnosis of MPS VI.

Wood T, Bodamer OA, Burin MG, D'Almeida V, Fietz M, Giugliani R, Hawley SM, Hendriksz CJ, Hwu WL, Ketteridge D, Lukacs Z, Mendelsohn NJ, Miller N, Pasquali M, Schenone A, Schoonderwoerd K, Winchester B, Harmatz P.

Mol Genet Metab. 2012 May;106(1):73-82. doi: 10.1016/j.ymgme.2012.02.005. Epub 2012 Feb 10.

PMID:
22405600
16.

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.

Pediatr Cardiol. 2012 Jun;33(5):827-30. doi: 10.1007/s00246-012-0214-y. Epub 2012 Feb 29.

PMID:
22374380
17.

Size and shape of the corpus callosum in adult Niemann-Pick type C reflects state and trait illness variables.

Walterfang M, Fahey M, Abel L, Fietz M, Wood A, Bowman E, Reutens D, Velakoulis D.

AJNR Am J Neuroradiol. 2011 Aug;32(7):1340-6. doi: 10.3174/ajnr.A2490. Epub 2011 May 19.

18.

Screening patients referred to a metabolic clinic for lysosomal storage disorders.

Fuller M, Tucker JN, Lang DL, Dean CJ, Fietz MJ, Meikle PJ, Hopwood JJ.

J Med Genet. 2011 Jun;48(6):422-5. doi: 10.1136/jmg.2010.088096. Epub 2011 Mar 17.

PMID:
21415080
19.

Refsum's Disease-Use of the Intestinal Lipase Inhibitor, Orlistat, as a Novel Therapeutic Approach to a Complex Disorder.

Perera NJ, Lewis B, Tran H, Fietz M, Sullivan DR.

J Obes. 2011;2011. pii: 482021. doi: 10.1155/2011/482021. Epub 2010 Sep 1.

20.

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.

Ebberink MS, Csanyi B, Chong WK, Denis S, Sharp P, Mooijer PA, Dekker CJ, Spooner C, Ngu LH, De Sousa C, Wanders RJ, Fietz MJ, Clayton PT, Waterham HR, Ferdinandusse S.

J Med Genet. 2010 Sep;47(9):608-15. doi: 10.1136/jmg.2009.074302. Epub 2010 Jul 20.

PMID:
20647552
21.

White and gray matter alterations in adults with Niemann-Pick disease type C: a cross-sectional study.

Walterfang M, Fahey M, Desmond P, Wood A, Seal ML, Steward C, Adamson C, Kokkinos C, Fietz M, Velakoulis D.

Neurology. 2010 Jul 6;75(1):49-56. doi: 10.1212/WNL.0b013e3181e6210e. Epub 2010 May 19.

PMID:
20484681
22.

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.

J Paediatr Child Health. 2010 Jun;46(6):316-22. doi: 10.1111/j.1440-1754.2010.01715.x. Epub 2010 Mar 29.

23.

Post-ictal psychosis in adolescent Niemann-Pick disease type C.

Walterfang M, Kornberg A, Adams S, Fietz M, Velakoulis D.

J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S63-5. doi: 10.1007/s10545-009-9021-x. Epub 2010 Jan 13.

PMID:
20069374
24.

An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients.

Kohan R, Cismondi IA, Kremer RD, Muller VJ, Guelbert N, Anzolini VT, Fietz MJ, Ramírez AM, Halac IN.

Clin Genet. 2009 Oct;76(4):372-82. doi: 10.1111/j.1399-0004.2009.01214.x.

PMID:
19793312
25.

Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C.

Walterfang M, Fietz M, Abel L, Bowman E, Mocellin R, Velakoulis D.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S221-6. doi: 10.1007/s10545-009-1173-1. Epub 2009 Jul 17.

PMID:
19609713
26.

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.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S241-51. doi: 10.1007/s10545-009-1180-2. Epub 2009 Apr 27.

PMID:
19396570
27.

Saccades in adult Niemann-Pick disease type C reflect frontal, brainstem, and biochemical deficits.

Abel LA, Walterfang M, Fietz M, Bowman EA, Velakoulis D.

Neurology. 2009 Mar 24;72(12):1083-6. doi: 10.1212/01.wnl.0000345040.01917.9d.

PMID:
19307542
28.

Congenital disorder of glycosylation type Ia in a Malaysian family: clinical outcome and description of a novel PMM2 mutation.

Thong MK, Fietz M, Nicholls C, Lee MH, Asma O.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S41-4. doi: 10.1007/s10545-009-1031-1. Epub 2009 Jan 26.

PMID:
19165618
29.

Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile.

Kohan R, Muller VJ, Fietz MJ, Cismondi AI, Oller Ramírez AM, Halac IN.

Hum Genet. 2008 Jun;123(5):553. No abstract available.

PMID:
20960655
30.

Images in neuroscience: psychosis and vertical supranuclear opthalmoplegia.

Walterfang M, Evans AH, Fietz M, Velakoulis D.

J Clin Neurosci. 2008 Mar;15(3):291, 370-1. No abstract available.

PMID:
18386387
31.

Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia.

Coman D, Bostock D, Hunter M, Kannu P, Irving M, Mayne V, Fietz M, Jaeken J, Savarirayan R.

Am J Med Genet A. 2008 Feb 1;146A(3):389-92. doi: 10.1002/ajmg.a.32119. No abstract available.

PMID:
18203160
32.
33.

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.

Edwards M, McKenzie F, O'callaghan S, Somerset D, Woodford P, Spilsbury J, Fietz M, Fletcher J.

Prenat Diagn. 2006 Oct;26(10):985-8.

PMID:
16915591
34.

The neuropsychiatry of Niemann-Pick type C disease in adulthood.

Walterfang M, Fietz M, Fahey M, Sullivan D, Leane P, Lubman DI, Velakoulis D.

J Neuropsychiatry Clin Neurosci. 2006 Spring;18(2):158-70.

PMID:
16720792
35.

Newborn screening for lysosomal storage disorders.

Meikle PJ, Grasby DJ, Dean CJ, Lang DL, Bockmann M, Whittle AM, Fietz MJ, Simonsen H, Fuller M, Brooks DA, Hopwood JJ.

Mol Genet Metab. 2006 Aug;88(4):307-14. Epub 2006 Apr 4.

PMID:
16600651
36.

Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.

Yang CC, Su YN, Chiou PC, Fietz MJ, Yu CL, Hwu WL, Lee MJ.

J Neurol Neurosurg Psychiatry. 2005 Apr;76(4):592-5.

37.

Diagnosis of lysosomal storage disorders: current techniques and future directions.

Meikle PJ, Fietz MJ, Hopwood JJ.

Expert Rev Mol Diagn. 2004 Sep;4(5):677-91. Review.

PMID:
15347261
38.

Functional analysis in Drosophila indicates that the NBCCS/PTCH1 mutation G509V results in activation of smoothened through a dominant-negative mechanism.

Hime GR, Lada H, Fietz MJ, Gillies S, Passmore A, Wicking C, Wainwright BJ.

Dev Dyn. 2004 Apr;229(4):780-90.

39.

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.

Prenat Diagn. 2003 Dec 15;23(12):1023-5. No abstract available.

PMID:
14663844
40.

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.

J Paediatr Child Health. 2001 Oct;37(5):510-2.

PMID:
11885720
41.

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.

Mol Genet Metab. 2002 Jan;75(1):46-55.

PMID:
11825063
42.

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.

Prenat Diagn. 2002 Jan;22(1):38-41.

PMID:
11810648
43.

Novel mutation in the Delta7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome.

Evans T, Poh A, Webb C, Wainwright B, Wicking C, Glass I, Carey WF, Fietz M.

Am J Med Genet. 2001 Nov 1;103(4):344-7. No abstract available.

PMID:
11746018
44.

An Australasian diagnostic service for the neuronal ceroid lipofuscinoses.

Muller VJ, Paton BC, Fietz MJ.

Eur J Paediatr Neurol. 2001;5 Suppl A:197-201.

PMID:
11588997
45.

Study of human papillomavirus infection in patients with anal squamous carcinoma.

Ramanujam PS, Venkatesh KS, Co Barnett T, Fietz MJ.

Dis Colon Rectum. 1996 Jan;39(1):37-9.

PMID:
8601354
46.

Hemangioma of the small intestine: case report and literature review.

Ramanujam PS, Venkatesh KS, Bettinger L, Hayashi JT, Rothman MC, Fietz MJ.

Am J Gastroenterol. 1995 Nov;90(11):2063-4. Review.

PMID:
7485031
47.
48.
49.

Perineal excision of rectal procidentia in elderly high-risk patients. A ten-year experience.

Ramanujam PS, Venkatesh KS, Fietz MJ.

Dis Colon Rectum. 1994 Oct;37(10):1027-30.

PMID:
7924710
50.

The hedgehog gene family in Drosophila and vertebrate development.

Fietz MJ, Concordet JP, Barbosa R, Johnson R, Krauss S, McMahon AP, Tabin C, Ingham PW.

Dev Suppl. 1994:43-51.

PMID:
7579523

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