Fietz M - Search Results

1

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

2

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

3

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. Edwards M, et al. Among authors: fietz m. Prenat Diagn. 2006 Oct;26(10):985-8. doi: 10.1002/pd.1543. Prenat Diagn. 2006. PMID: 16915591

4

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. Thong MK, et al. Among authors: fietz m. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S41-4. doi: 10.1007/s10545-009-1031-1. Epub 2009 Jan 26. J Inherit Metab Dis. 2009. PMID: 19165618

5

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. Coman D, et al. Among authors: fietz m. Am J Med Genet A. 2008 Feb 1;146A(3):389-92. doi: 10.1002/ajmg.a.32119. Am J Med Genet A. 2008. PMID: 18203160 No abstract available.

6

Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.

Morales A, Ing A, Antolik C, Austin-Tse C, Baudhuin LM, Bronicki L, Cirino A, Hawley MH, Fietz M, Garcia J, Ho C, Ingles J, Jarinova O, Johnston T, Kelly MA, Kurtz CL, Lebo M, Macaya D, Mahanta L, Maleszewski J, Manrai AK, Murray M, Richard G, Semsarian C, Thomson KL, Winder T, Ware JS, Hershberger RE, Funke BH, Vatta M; ClinGen Cardiovascular Clinical Domain Working Group; Cardiomyopathy Variant Curation Expert Panel. Morales A, et al. Among authors: fietz m. J Mol Diagn. 2021 May;23(5):589-598. doi: 10.1016/j.jmoldx.2021.01.014. Epub 2021 Feb 22. J Mol Diagn. 2021. PMID: 33631351 Free PMC article.

7

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.

McKenzie FA, Fietz M, Fletcher J, Smith RL, Wright IM, Jaeken J. McKenzie FA, et al. Among authors: fietz m. Am J Med Genet A. 2007 Sep 1;143A(17):2029-34. doi: 10.1002/ajmg.a.31867. Am J Med Genet A. 2007. PMID: 17663480

8

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. Sadick VJ, et al. Heart Lung Circ. 2014 Dec;23(12):1149-52. doi: 10.1016/j.hlc.2014.07.056. Epub 2014 Jul 16. Heart Lung Circ. 2014. PMID: 25086909

9

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. Leadley RM, et al. Among authors: fietz m. Orphanet J Rare Dis. 2014 Nov 18;9:173. doi: 10.1186/s13023-014-0173-x. Orphanet J Rare Dis. 2014. PMID: 25404155 Free PMC article. Review.

10

What's Wrong with the Transferrin?

Wijeratne N, Tudball R, Choy KW, Fietz M, Doery JC. Wijeratne N, et al. Among authors: fietz m. Clin Chem. 2016 Feb;62(2):413-4. doi: 10.1373/clinchem.2015.241083. Clin Chem. 2016. PMID: 26823612 No abstract available.

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