Carchon H - Search Results

1

Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency).

Barone R, Carchon H, Jansen E, Pavone L, Fiumara A, Bosshard NU, Gitzelmann R, Jaeken J. Barone R, et al. Among authors: carchon h. J Inherit Metab Dis. 1998 Apr;21(2):167-72. doi: 10.1023/a:1005351927573. J Inherit Metab Dis. 1998. PMID: 9584269

2

The carbohydrate-deficient glycoprotein syndromes: an overview.

Jaeken J, Carchon H. Jaeken J, et al. Among authors: carchon h. J Inherit Metab Dis. 1993;16(5):813-20. doi: 10.1007/BF00714272. J Inherit Metab Dis. 1993. PMID: 8295395 Review.

3

[Carbohydrate-deficient glycoprotein syndrome].

Jaeken J, Carchon H. Jaeken J, et al. Among authors: carchon h. Arch Pediatr. 1996;3 Suppl 1:161s-162s. doi: 10.1016/0929-693x(96)86027-1. Arch Pediatr. 1996. PMID: 8796002 French. No abstract available.

4

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

Carchon H, Van Schaftingen E, Matthijs G, Jaeken J. Carchon H, et al. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):155-65. doi: 10.1016/s0925-4439(99)00073-3. Biochim Biophys Acta. 1999. PMID: 10571009 Free article. Review.

5

Carbohydrate deficient glycoprotein (CDG) syndrome type I.

Jaeken J, Matthijs G, Barone R, Carchon H. Jaeken J, et al. Among authors: carchon h. J Med Genet. 1997 Jan;34(1):73-6. doi: 10.1136/jmg.34.1.73. J Med Genet. 1997. PMID: 9032653 Free PMC article. No abstract available.

6

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

Jaeken J, Schachter H, Carchon H, De Cock P, Coddeville B, Spik G. Jaeken J, et al. Among authors: carchon h. Arch Dis Child. 1994 Aug;71(2):123-7. doi: 10.1136/adc.71.2.123. Arch Dis Child. 1994. PMID: 7944531 Free PMC article.

7

Carbohydrate-deficient glycoprotein syndrome type II.

Jaeken J, De Cock P, Stibler H, Van Geet C, Kint J, Ramaekers V, Carchon H. Jaeken J, et al. Among authors: carchon h. J Inherit Metab Dis. 1993;16(6):1041. doi: 10.1007/BF00711522. J Inherit Metab Dis. 1993. PMID: 8127054 No abstract available.

8

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. Burda P, et al. Among authors: carchon h. J Clin Invest. 1998 Aug 15;102(4):647-52. doi: 10.1172/JCI2266. J Clin Invest. 1998. PMID: 9710431 Free PMC article.

9

The carbohydrate-deficient glycoprotein syndromes: pre-Golgi and Golgi disorders?

Jaeken J, Carchon H, Stibler H. Jaeken J, et al. Among authors: carchon h. Glycobiology. 1993 Oct;3(5):423-8. doi: 10.1093/glycob/3.5.423. Glycobiology. 1993. PMID: 8286854 Review.

10

3-Phosphoglycerate dehydrogenase deficiency and 3-phosphoserine phosphatase deficiency: inborn errors of serine biosynthesis.

Jaeken J, Detheux M, Van Maldergem L, Frijns JP, Alliet P, Foulon M, Carchon H, Van Schaftingen E. Jaeken J, et al. Among authors: carchon h. J Inherit Metab Dis. 1996;19(2):223-6. doi: 10.1007/BF01799435. J Inherit Metab Dis. 1996. PMID: 8739971 No abstract available.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

39 results

Search Page

Filters