Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia

[1]  G. Hülskamp,et al.  Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia , 2002, European Journal of Pediatrics.

[2]  H. Freeze,et al.  A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. , 2002, Human molecular genetics.

[3]  I. Mader,et al.  Congenital disorder of glycosylation type Ia: benign clinical course in a new genetic variant , 2002, Child's Nervous System.

[4]  M. Schwartz,et al.  Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype , 2001, Archives of disease in childhood.

[5]  E. Schaftingen,et al.  High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). , 2001, American journal of human genetics.

[6]  H. Freeze,et al.  Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG‐Ia) , 2000, Human mutation.

[7]  G. Matthijs,et al.  Effect of mutations found in carbohydrate‐deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2 , 1999, FEBS letters.

[8]  K. Shigemoto,et al.  Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate‐deficient glycoprotein syndrome type 1 , 1999, Clinical genetics.

[9]  Michael Y. Galperin,et al.  The catalytic domain of the P-type ATPase has the haloacid dehalogenase fold. , 1998, Trends in biochemical sciences.

[10]  E. Schaftingen,et al.  Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. , 1998, American journal of human genetics.

[11]  A. Kurisaki,et al.  A Partial Deficiency of Dehydrodolichol Reduction Is a Cause of Carbohydrate-deficient Glycoprotein Syndrome Type I* , 1997, The Journal of Biological Chemistry.

[12]  E. Schaftingen,et al.  Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type I , 1995, FEBS letters.

[13]  K. Takeshita,et al.  Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome , 1995, Neuroradiology.

[14]  K. Takeshita,et al.  The carbohydrate deficient glycoprotein syndrome in three Japanese children , 1992, Brain and Development.

[15]  J. Jaeken,et al.  Carbohydrate-deficient glycoconjugate (CDG) syndromes: a new chapter of neuropaediatrics. , 1997, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.