Literature DB >> 16435227

Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: two novel PMM2 mutations.

D Coman1, S Klingberg, D Morris, J McGill, H Mercer.   

Abstract

We report two novel mutations in the PMM2 gene in a girl with congenital disorder of gylcosylation type Ia (CDG Ia) and a mild intellectual phenotype.

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Year:  2005        PMID： 16435227     DOI： 10.1007/s10545-005-0166-y

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.750


  6 in total

Review 1.  What's new in congenital disorders of glycosylation?

Authors:  J Jaeken; H Carchon
Journal:  Eur J Paediatr Neurol       Date:  2000       Impact factor: 3.140

2.  Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances.

Authors:  C H van Ommen; M Peters; P G Barth; P Vreken; R J Wanders; J Jaeken
Journal:  J Pediatr       Date:  2000-03       Impact factor: 4.406

3.  High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).

Authors:  S Grünewald; E Schollen; E Van Schaftingen; J Jaeken; G Matthijs
Journal:  Am J Hum Genet       Date:  2001-01-11       Impact factor: 11.025

4.  Ophthalmic manifestations of congenital disorder of glycosylation type 1a.

Authors:  Hanne Jensen; Susanne Kjaergaard; Flemming Klie; H U Moller
Journal:  Ophthalmic Genet       Date:  2003-06       Impact factor: 1.803

Review 5.  Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies.

Authors:  T Marquardt; J Denecke
Journal:  Eur J Pediatr       Date:  2003-03-15       Impact factor: 3.183

6.  Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia.

Authors:  V Westphal; S Peterson; M Patterson; A Tournay; A Blumenthal; E P Treacy; H H Freeze
Journal:  Genet Med       Date:  2001 Nov-Dec       Impact factor: 8.822
  6 in total
  1 in total

Review 1.  Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients.

Authors:  Hudson H Freeze
Journal:  Biochim Biophys Acta       Date:  2009-09
  1 in total

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