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Items: 1 to 20 of 37

1.

Expression cloning of a novel suppressor of the Lec15 and Lec35 glycosylation mutations of Chinese hamster ovary cells.

Ware FE, Lehrman MA.

J Biol Chem. 1998 May 22;273(21):13366. No abstract available.

2.

Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome.

Babovic-Vuksanovic D, Patterson MC, Schwenk WF, O'Brien JF, Vockley J, Freeze HH, Mehta DP, Michels VV.

J Pediatr. 1999 Dec;135(6):775-81.

PMID:
10586187
3.

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose.

de Lonlay P, Cuer M, Vuillaumier-Barrot S, Beaune G, Castelnau P, Kretz M, Durand G, Saudubray JM, Seta N.

J Pediatr. 1999 Sep;135(3):379-83.

PMID:
10484808
4.

A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.

Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T.

Proc Natl Acad Sci U S A. 1999 Jun 8;96(12):6982-7.

5.

Disorders in protein glycosylation and potential therapy: tip of an iceberg?

Freeze HH.

J Pediatr. 1998 Nov;133(5):593-600. Review.

PMID:
9821413
6.

Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase.

Körner C, Knauer R, Holzbach U, Hanefeld F, Lehle L, von Figura K.

Proc Natl Acad Sci U S A. 1998 Oct 27;95(22):13200-5.

7.

Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A.

Kjaergaard S, Kristiansson B, Stibler H, Freeze HH, Schwartz M, Martinsson T, Skovby F.

Acta Paediatr. 1998 Aug;87(8):884-8.

PMID:
9736238
9.

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide.

Burda P, Borsig L, de Rijk-van Andel J, Wevers R, Jaeken J, Carchon H, Berger EG, Aebi M.

J Clin Invest. 1998 Aug 15;102(4):647-52.

10.

Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency.

Mayatepek E, Kohlmüller D.

Eur J Pediatr. 1998 Jul;157(7):605-6. No abstract available.

PMID:
9686827
11.

Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.

Jaeken J, Matthijs G, Saudubray JM, Dionisi-Vici C, Bertini E, de Lonlay P, Henri H, Carchon H, Schollen E, Van Schaftingen E.

Am J Hum Genet. 1998 Jun;62(6):1535-9. No abstract available.

12.
13.

A homologue of Saccharomyces cerevisiae Dpm1p is not sufficient for synthesis of dolichol-phosphate-mannose in mammalian cells.

Tomita S, Inoue N, Maeda Y, Ohishi K, Takeda J, Kinoshita T.

J Biol Chem. 1998 Apr 10;273(15):9249-54.

14.

A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency.

de Koning TJ, Dorland L, van Diggelen OP, Boonman AM, de Jong GJ, van Noort WL, De Schryver J, Duran M, van den Berg IE, Gerwig GJ, Berger R, Poll-The BT.

Biochem Biophys Res Commun. 1998 Apr 7;245(1):38-42.

PMID:
9535779
15.

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

Niehues R, Hasilik M, Alton G, Körner C, Schiebe-Sukumar M, Koch HG, Zimmer KP, Wu R, Harms E, Reiter K, von Figura K, Freeze HH, Harms HK, Marquardt T.

J Clin Invest. 1998 Apr 1;101(7):1414-20.

17.

Recognition signal for C-mannosylation of Trp-7 in RNase 2 consists of sequence Trp-x-x-Trp.

Krieg J, Hartmann S, Vicentini A, Gläsner W, Hess D, Hofsteenge J.

Mol Biol Cell. 1998 Feb;9(2):301-9.

18.

Continuous mannose infusion in carbohydrate-deficient glycoprotein syndrome type I.

Mayatepek E, Schröder M, Kohlmüller D, Bieger WP, Nützenadel W.

Acta Paediatr. 1997 Oct;86(10):1138-40.

PMID:
9350901
19.

C-Mannosylation of human RNase 2 is an intracellular process performed by a variety of cultured cells.

Krieg J, Gläsner W, Vicentini A, Doucey MA, Löffler A, Hess D, Hofsteenge J.

J Biol Chem. 1997 Oct 17;272(42):26687-92.

20.

Carbohydrate-deficient glycoprotein syndrome.

Krasnewich D, Gahl WA.

Adv Pediatr. 1997;44:109-40. Review.

PMID:
9265969

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