Phosphomannomutase activity in congenital disorders of glycosylation type Ia determined by direct analysis of the interconversion of mannose-1-phosphate to mannose-6-phosphate by high-pH anion-exchange chromatography with pulsed amperometric detection.

[1]  H. Stibler,et al.  Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome , 1996, Journal of Inherited Metabolic Disease.

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

[3]  F. Skovby,et al.  Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome , 1995, Neuroradiology.

[4]  H. Carchon,et al.  The carbohydrate-deficient glycoprotein syndromes: An overview , 1993, Journal of Inherited Metabolic Disease.

[5]  Y. Wada,et al.  Decreased blood coagulation activities in carbohydrate-deficient glycoprotein syndrome , 1993, Journal of Inherited Metabolic Disease.

[6]  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.

[7]  G. Matthijs,et al.  Annals of the New York Academy of Sciences Congenital Disorders of Glycosylation , 2022 .

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

[9]  J. Jaeken,et al.  Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency) , 1999, Brain and Development.

[10]  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.

[11]  W. Gahl,et al.  Carbohydrate-deficient glycoprotein syndrome. , 1997, Advances in pediatrics.

[12]  L. Tengborn,et al.  Complex functional and structural coagulation abnormalities in the carbohydrate‐deficient glycoprotein syndrome type I , 1996, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

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

[14]  W. Gahl,et al.  Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome. , 1995, Glycobiology.

[15]  D. A. Spencer,et al.  Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay. , 1995, Archives of disease in childhood.

[16]  F. Hanefeld,et al.  Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406. , 1994, Human molecular genetics.

[17]  A. Varki,et al.  Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis? , 1994, The Journal of clinical investigation.

[18]  B. Hagberg,et al.  Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease. , 1994, Journal of neurology, neurosurgery, and psychiatry.

[19]  B. Hagberg,et al.  Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders. , 1993, Pediatric neurology.

[20]  J. Jaeken,et al.  A Unique Pattern of Coagulation Abnormalities in Carbohydrate-Deficient Glycoprotein Syndrome , 1993, Pediatric Research.

[21]  K. Takeshita,et al.  Sugar chains of serum transferrin from patients with carbohydrate deficient glycoprotein syndrome. Evidence of asparagine-N-linked oligosaccharide transfer deficiency. , 1993, The Journal of biological chemistry.

[22]  F. Skovby,et al.  Early manifestations of the carbohydrate-deficient glycoprotein syndrome. , 1993, The Journal of pediatrics.

[23]  Z. B. Rose,et al.  The synthesis of mannose 1-phosphate in brain. , 1985, Archives of biochemistry and biophysics.

[24]  H. G. Eijk,et al.  Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. , 1984, Clinica chimica acta; international journal of clinical chemistry.

[25]  J. Jaeken,et al.  Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90 , 1980, Pediatric Research.

[26]  T. Murata.  Purification and some properties of phosphomannomutase from corms of Amorphophallus konjac C. Koch , 1976 .

[27]  D. F. Pindar,et al.  The biosynthesis of alginic acid by Azotobacter vinelandii. , 1975, The Biochemical journal.

[28]  V. Najjar.  [36] Phosphoglucomutase from muscle , 1955 .