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

[1]  T. Hennet,et al.  On the nomenclature of congenital disorders of glycosylation (CDG) , 2008, Journal of Inherited Metabolic Disease.

[2]  E. Hoppenreijs,et al.  Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia. , 2008, Molecular genetics and metabolism.

[3]  O. Bodamer,et al.  Congenital disorders of glycosylation—a challenging group of IEMs , 2008, Journal of Inherited Metabolic Disease.

[4]  W. Chung,et al.  Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia. , 2005, The Journal of clinical endocrinology and metabolism.

[5]  M. Knaap,et al.  Congenital nephrotic syndrome: A novel phenotype of type I carbohydrate-deficient glycoprotein syndrome , 1996, Journal of Inherited Metabolic Disease.

[6]  S. Kjaergaard.  Congenital disorders of glycosylation type Ia and Ib. Genetic, biochemical and clinical studies. , 2004, Danish medical bulletin.

[7]  M. Sperling,et al.  Hyperinsulinemic hypoglycemia of infancy: the challenge continues , 2004, Diabetes/metabolism research and reviews.

[8]  J. Jaeken.  Congenital disorders of glycosylation (CDG): Update and new developments , 2004, Journal of Inherited Metabolic Disease.

[9]  H. Freeze,et al.  New Disorders in Carbohydrate Metabolism: Congenital Disorders of Glycosylation and Their Impact on the Endocrine System , 2003, Reviews in Endocrine and Metabolic Disorders.

[10]  J. Jaeken,et al.  Congenital disorders of glycosylation (CDG): It's all in it! , 2003, Journal of Inherited Metabolic Disease.

[11]  E. Schaftingen,et al.  Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia , 2003, Journal of Inherited Metabolic Disease.

[12]  G. Klöppel,et al.  Hyperinsulinaemic hypoglycaemia—Leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency) , 2001, Journal of Inherited Metabolic Disease.

[13]  C. Scriver,et al.  The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.

[14]  E. Schaftingen,et al.  Carbohydrate-deficient glycoprotein syndrome: Beyond the screen , 2000, Journal of Inherited Metabolic Disease.

[15]  P. Clayton,et al.  Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1 , 2000, Journal of Inherited Metabolic Disease.

[16]  A. Helenius,et al.  Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG , 1999, Glycoconjugate Journal.

[17]  J. Jaeken,et al.  Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin. , 2004, Clinical chemistry.

[18]  G. Matthijs,et al.  Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia. , 2003, Neuropediatrics.

[19]  G. Matthijs,et al.  Congenital Disorders of Glycosylation: A Review , 2002, Pediatric Research.

[20]  H. Freeze,et al.  Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. , 2002, The Journal of pediatrics.

[21]  K. Zimmer,et al.  Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency , 2002, Acta paediatrica.

[22]  H. Freeze.  Update and perspectives on congenital disorders of glycosylation. , 2001, Glycobiology.

[23]  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.

[24]  M. Pineda,et al.  Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease. , 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

[25]  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.

[26]  A. Munnich,et al.  A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases , 2001, Journal of medical genetics.

[27]  E. Schaftingen,et al.  Defects of N-glycan synthesis , 2001 .

[28]  A. Munnich,et al.  Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern. , 2001, Clinical chemistry.

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

[30]  S. Nilsson,et al.  PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families , 2000, Human mutation.

[31]  H. Freeze,et al.  Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG‐Ib) , 2000, Human mutation.

[32]  H. Freeze,et al.  Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome. , 1999, The Journal of pediatrics.

[33]  J. Saudubray,et al.  Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose. , 1999, The Journal of pediatrics.

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

[35]  H. Freeze.  Disorders in protein glycosylation and potential therapy: tip of an iceberg? , 1998, The Journal of pediatrics.

[36]  G. Matthijs,et al.  Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families , 1998, European Journal of Human Genetics.

[37]  M. Schwartz,et al.  Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1 , 1998, European Journal of Human Genetics.

[38]  P. Clayton,et al.  Prenatal diagnosis of the carbohydrate‐deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling , 1998, Prenatal diagnosis.

[39]  E. Mayatepek,et al.  Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency , 1998, European Journal of Pediatrics.

[40]  N. Conradi,et al.  The heart and pericardial effusions in CDGS-I (carbohydrate-deficient glycoprotein syndrome type I) , 1998, Journal of Inherited Metabolic Disease.

[41]  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.

[42]  G. Addison.  The Metabolic and Molecular Bases of Inherited Disease CD-ROM (Version 1.0) Edited by C.R. Scriver, A.L. Beaudet, W.S. Sly and D. Valle , 1997, Journal of Inherited Metabolic Disease.

[43]  E. Mayatepek,et al.  Continuous mannose infusion in carbohydrate‐deficient glycoprotein syndrome type I , 1997, Acta paediatrica.

[44]  E. Pardon,et al.  Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome) , 1997, Nature Genetics.

[45]  H. Freeze,et al.  Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts. , 1996, The Journal of clinical investigation.

[46]  H. Carchon,et al.  [Carbohydrate-deficient glycoprotein syndrome]. , 1996, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

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

[48]  P. Macchia,et al.  Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I. , 1995, The Journal of clinical endocrinology and metabolism.

[49]  L. Wide,et al.  Gonadal function and glycoprotein hormones in the carbohydrate‐deficient glycoprotein (CDG) syndrome , 1995, Acta paediatrica.

[50]  J. Jaeken,et al.  Endocrinology of the Carbohydrate-Deficient Glycoprotein Syndrome Type 1 from Birth through Adolescence , 1995, Pediatric Research.

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

[52]  A. Varki,et al.  Biological roles of oligosaccharides: all of the theories are correct , 1993, Glycobiology.

[53]  B. Harding,et al.  Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome. , 1991, Archives of disease in childhood.

[54]  J. Jaeken,et al.  The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement. , 1991, Acta paediatrica Scandinavica. Supplement.

[55]  B. Hagberg,et al.  Disialotransferrin developmental deficiency syndrome. , 1989, Archives of disease in childhood.

[56]  M. Lazdunski,et al.  Characterization, purification, and affinity labeling of the brain [3H]glibenclamide-binding protein, a putative neuronal ATP-regulated K+ channel. , 1988, Proceedings of the National Academy of Sciences of the United States of America.

[57]  G. Beckman,et al.  Transferrin phenotype and level of carbohydrate-deficient transferrin in healthy individuals. , 1988, Alcoholism, clinical and experimental research.

[58]  D. Dunger,et al.  Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities. , 1988, Journal of neurology, neurosurgery, and psychiatry.

[59]  J. L. Potter,et al.  Lipoprotein disorder, cirrhosis, and olivopontocerebellar degeneration in two siblings , 1986, Neurology.

[60]  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.

[61]  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.