Fietz M - Search Results

1

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.

2

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

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

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

5

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

6

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

7

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

8

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. Fuller M, et al. Among authors: fietz mj. J Med Genet. 2011 Jun;48(6):422-5. doi: 10.1136/jmg.2010.088096. Epub 2011 Mar 17. J Med Genet. 2011. PMID: 21415080

9

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. Ebberink MS, et al. Among authors: fietz mj. J Med Genet. 2010 Sep;47(9):608-15. doi: 10.1136/jmg.2009.074302. Epub 2010 Jul 20. J Med Genet. 2010. PMID: 20647552 Free article.

10

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. Bhattacharya K, et al. Among authors: fietz m. Orphanet J Rare Dis. 2014 Nov 30;9:192. doi: 10.1186/s13023-014-0192-7. Orphanet J Rare Dis. 2014. PMID: 25433535 Free PMC article.

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