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Laboratory Diagnosis of Congenital Disorders of Glycosylation Type I by Analysis of Transferrin Glycoforms

Authors: Babovic-Vuksanovic, Dusica; O'Brien, John F.

Source: Molecular Diagnosis & Therapy, Volume 11, Number 5, 2007 , pp. 303-311(9)

Publisher: Adis International

Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype)

Authors: Barone, R.; Sturiale, L.; Fiumara, A.; Uziel, G.; Garozzo, D.; Jaeken, J.

Source: Journal of Inherited Metabolic Disease, Volume 30, Number 1, February 2007 , pp. 107-107(1)

Publisher: Springer

Congenital disorders of glycosylation (CDG): It's all in it!

Author: Jaeken J.

Source: Journal of Inherited Metabolic Disease, Volume 26, Numbers 2-3, 2003 , pp. 99-118(20)

Publisher: Springer

Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency

Authors: Harms H.K.; Zimmer K-P.; Kurnik K.; Bertele-Harms R.; Weidinger S.; Reiter K.

Source: Acta Paediatrica, Volume 91, Number 10, 1 October 2002 , pp. 1065-1072(8)

Publisher: Informa Healthcare

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

Authors: Kjaergaard S.; Schollen E.; Martens K.; Grunewald S.; Schwartz M.; Matthijs G.; Westphal V.; Freeze H.H.

Source: Human Molecular Genetics, Volume 11, Number 5, 1 March 2002 , pp. 599-604(6)

Publisher: Oxford University Press

Hyperinsulinaemic hypoglycaemia—Leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency)

Authors: Böhles H.; Sewell A.C.; Gebhardt B.; Reinecke-Lüthge A.; Klöppel G.; Marquardt T.

Source: Journal of Inherited Metabolic Disease, Volume 24, Number 8, December 2001 , pp. 858-862(5)

Publisher: Springer

Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1

Authors: Imtiaz F.; Worthington V.; Champion M.; Beesley C.; Charlwood J.; Clayton P.; Keir G.; Mian N.; Winchester B.

Source: Journal of Inherited Metabolic Disease, Volume 23, Number 2, March 2000 , pp. 162-174(13)

Publisher: Springer

?Carbohydrate-deficient glycoprotein? syndrome

Authors: de Lonlay P.; Cormier-Daire V.; Vuillaumier-Barrot S.; Cuer M.; Durand G.; Munnich A.; Saudubray J.M.; Seta N.

Source: Archives de Pediatrie, Volume 7, Number 2, February 2000 , pp. 173-184(12)

Publisher: Elsevier

-Hexosaminidase, -d-mannosidase, and -mannosidase expression in serum from patients with carbohydrate-deficient glycoprotein syndrome type I

Authors: Beccari T.; Mancuso F.; Costanzi E.; Tassi C.; Barone R.; Fiumara A.; Orlacchio A.; Aisa M.C.; Orlacchio A.

Source: Clinica Chimica Acta, Volume 302, Number 1, December 2000 , pp. 125-132(8)

Publisher: Elsevier

Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG)

Authors: Rush, Jeffrey S.; Panneerselvam, K.; Waechter, Charles J.; Freeze, Hudson H.

Source: Glycobiology, Volume 10, Number 8, August 2000 , pp. 829-835(7)

Publisher: Oxford University Press

Phosphomannomutase Deficiency: The Molecular Basis of the Classical Jaeken Syndrome (CDGS Type Ia)

Authors: Matthijs G.; Schollen E.; Heykants L.; Grunewald S.

Source: Molecular Genetics and Metabolism, Volume 68, Number 2, October 1999 , pp. 220-226(7)

Publisher: Elsevier

Molecular basis of carbohydrate-deficient glycoprotein syndromes type I with normal phosphomannomutase activity

Authors: Freeze H.H.; Aebi M.

Source: Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease, Volume 1455, Number 2, 8 October 1999 , pp. 167-178(12)

Publisher: Elsevier

Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency)

Authors: Carchon H.; Van Schaftingen E.; Matthijs G.; Jaeken J.

Source: Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease, Volume 1455, Number 2, 8 October 1999 , pp. 155-165(11)

Publisher: Elsevier

Missense mutations in the phosphomannomutase 2 gene of two Japanese siblings with carbohydrate-deficient glycoprotein syndrome type I

Authors: Mizugishi K.; Yamanaka K.; Kuwajima K.; Yuasa I.; Shigemoto K.; Kondo I.

Source: Brain and Development, Volume 21, Number 4, 1 June 1999 , pp. 223-228(6)

Publisher: Elsevier

Developmental patterns and neuropsychological assessment in patients with carbohydrate-deficient glycoconjugate syndrome type IA (phosphomannomutase deficiency)

Authors: Barone R.; Pavone L.; Fiumara A.; Bianchini R.; Jaeken J.

Source: Brain and Development, Volume 21, Number 4, 1 June 1999 , pp. 260-263(4)

Publisher: Elsevier

Alteration of mannose transport in fibroblasts from type I carbohydrate deficient glycoprotein syndrome patients

Authors: Dupre T.; Ogier-Denis E.; Moore S.E.H.; Cormier-Daire V.; Dehoux M.; Durand G.; Seta N.; Codogno P.

Source: Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease, Volume 1453, Number 3, 30 March 1999 , pp. 369-377(9)

Publisher: Elsevier

Phosphomannomutase Deficiency: The Molecular Basis of the Classical Jaeken Syndrome (CDGS Type Ia)

Authors: Matthijs G.; Schollen E.; Heykants L.; Grünewald S.

Source: Molecular Genetics and Metabolism, Volume 68, Number 2, October 1999 , pp. 220-226(7)

Publisher: Academic Press

-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain

Authors: Grunewald S.; Huyben K.; de Jong J.G.N.; Smeitink J.A.M.; Rubio E.; Boers G.H.J.; Conradt H.S.; Wendel U.; Wevers R.A.

Source: Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease, Volume 1455, Number 1, 20 September 1999 , pp. 54-60(7)

Publisher: Elsevier

A Novel Disorder of N-Glycosylation Due to Phosphomannose Isomerase Deficiency

Authors: de Koning T.J.; Dorland L.; van Diggelen O.P.; Boonman A.M.C.; de Jong G.J.; van Noort W.L.; De Schryver J.; Duran M.; van den Berg I.E.T.; Gerwig G.J.; Berger R.; Poll-The B.T.

Source: Biochemical and Biophysical Research Communications, Volume 245, Number 1, 7 April 1998 , pp. 38-42(5)

Publisher: Elsevier

Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose

Authors: Korner C.; Lehle L.; von Figura K.

Source: Glycoconjugate Journal, Volume 15, Number 5, 6 April 1998 , pp. 499-505(7)

Publisher: Springer