Search Results

Anesthesia considerations in carbohydrate-deficient glycoprotein syndrome type I

Source: Paediatric Anaesthesia, Volume 15, Number 10, October 2005 , pp. 905-906(2)

Publisher: Blackwell Publishing

CARBOHYDRATE-DEFICIENT TRANSFERRIN (CDT)—A BIOMARKER FOR LONG-TERM ALCOHOL CONSUMPTION

Authors: Golka, Klaus; Wiese, Andreas

Source: Journal of Toxicology and Environmental Health Part B: Critical Reviews, Volume 7, Number 4, July–August 2004 , pp. 319-337(19)

Publisher: Taylor and Francis Ltd

Carbohydrate-deficient glycoprotein syndrome 1b: A new answer to an old diagnostic dilemma

Authors: Kelly D.; Boneh A.; Pitsch S.; Gold H.; Fietz M.; Nelson P.; Oliver M.

Source: Journal of Paediatrics and Child Health, Volume 37, Number 5, October 2001 , pp. 510-512(3)

Publisher: Blackwell Publishing

Online Single-Step Analysis of Blood Proteins: The Transferrin Story

Authors: Bergen H.R.; Lacey J.M.; O'Brien J.F.; Naylor S.

Source: Analytical Biochemistry, Volume 296, Number 1, September 2001 , pp. 122-129(8)

Publisher: Academic Press

Carbohydrate deficient transferrin (CDT) in comparison to other biological markers in alcoholism

Authors: Ackenheil M.; Sanktjohannser A.; Soyka M.; Jenner A.; Karlsson M.

Source: FEBS Letters, Volume 5, Number 3, September 1995 , pp. 193-194(2)

Publisher: Elsevier

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: Beyond the screen

Authors: Fletcher J.M.; Matthijs G.; Jaeken J.; Van Schaftingen E.; Nelson P.V.

Source: Journal of Inherited Metabolic Disease, Volume 23, Number 4, June 2000 , pp. 396-398(3)

Publisher: Springer

Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism

Authors: Knopf C.; Rod R.; Jaeken J.; Berant M.; Van Schaftingen E.; Fryns J.P.; Brill-Zamir R.; Gershoni-Baruch R.; Lischinsky S.; Mandel H.

Source: Journal of Inherited Metabolic Disease, Volume 23, Number 4, June 2000 , pp. 399-403(5)

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

Ocular motor signs in an infant with carbohydrate-deficient glycoprotein syndrome type Ia

Authors: Stark K.L.; Gibson J.B.; Hertle R.W.; Brodsky M.C.

Source: American Journal of Ophthalmology, Volume 130, Number 4, October 2000 , pp. 533-535(3)

Publisher: Elsevier

Pontocerebellar hypoplasia type 2 (PCH2): report of two siblings

Authors: Coppola G.; Muras I.; Pascotto A.

Source: Brain and Development, Volume 22, Number 3, 24 May 2000 , pp. 188-192(5)

Publisher: Elsevier

Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1

Authors: Kondo, I; Mizugishi, K; Yoneda, Y; Hashimoto, T; Kuwajima, K; Yuasa, I; Shigemoto, K; Kuroda, Y

Source: Clinical Genetics, Volume 55, Number 1, January 1999 , pp. 50-54(5)

Publisher: Blackwell Publishing

Carbohydrate-deficient glycoprotein syndrome et glycosylation des N-glycosylproteines

Author: Seta N.

Source: Archives de Pediatrie, Volume 6, Supplement 2, 1999 , pp. 206s-208s(3)

Publisher: Elsevier

Carbohydrate-deficient glycoprotein syndrome type 2

Authors: Engelhardt H.; Staudt M.; Hässler A.; Holzbach U.; Freisinger P.; Krägeloh-mann I.

Source: Journal of Inherited Metabolic Disease, Volume 22, Number 2, April 1999 , pp. 192-193(2)

Publisher: Springer

Retrospective diagnosis of carbohydrate-deficient glycoprotein syndrome type Ib

Authors: Neele D.M.; Kneepkens C.M.F.; Verhoeven N.M.; Jakobs C.

Source: Journal of Inherited Metabolic Disease, Volume 22, Number 8, December 1999 , pp. 936-937(2)

Publisher: Springer

The sugar moiety of Tamm-Horsfall protein is affected by the carbohydrate-deficient glycoprotein type I syndrome. A case study

Authors: Olczak T.; Olczak M.; Kubicz A.

Source: Glycoconjugate Journal, Volume 16, Number 9, September 1999 , pp. 481-485(5)

Publisher: Springer

Haptoglobin glycoforms in a case of carbohydrate-deficient glycoprotein syndrome

Authors: Ferens-Sieczkowska M.; Midro A.; Mierzejewska-Iwanowska B.; Zwierz K.; Ktnik-Prastowska I.

Source: Glycoconjugate Journal, Volume 16, Number 10, October 1999 , pp. 573-577(5)

Publisher: Springer

Carbohydrate-deficient glycoprotein syndrome type II

Authors: Schachter H.; Jaeken J.

Source: Biochimica et Biophysica Acta (BBA)/Molecular Basis of Disease, Volume 1455, Number 2, 8 October 1999 , pp. 179-192(14)

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