Harms E - Search Results

1

Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism.

Marquardt T, Brune T, Lühn K, Zimmer KP, Körner C, Fabritz L, van der Werft N, Vormoor J, Freeze HH, Louwen F, Biermann B, Harms E, von Figura K, Vestweber D, Koch HG. Marquardt T, et al. Among authors: harms e. J Pediatr. 1999 Jun;134(6):681-8. doi: 10.1016/s0022-3476(99)70281-7. J Pediatr. 1999. PMID: 10356134 Free PMC article.

2

Correction of leukocyte adhesion deficiency type II with oral fucose.

Marquardt T, Lühn K, Srikrishna G, Freeze HH, Harms E, Vestweber D. Marquardt T, et al. Among authors: harms e. Blood. 1999 Dec 15;94(12):3976-85. Blood. 1999. PMID: 10590041 Free article.

3

Discontinuation of fucose therapy in LADII causes rapid loss of selectin ligands and rise of leukocyte counts.

Lühn K, Marquardt T, Harms E, Vestweber D. Lühn K, et al. Among authors: harms e. Blood. 2001 Jan 1;97(1):330-2. doi: 10.1182/blood.v97.1.330. Blood. 2001. PMID: 11133780 Free article.

4

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. Niehues R, et al. Among authors: harms e, harms hk. J Clin Invest. 1998 Apr 1;101(7):1414-20. doi: 10.1172/JCI2350. J Clin Invest. 1998. PMID: 9525984 Free PMC article.

5

The redox status of aminothiols as a clue to homocysteine-induced vascular damage?

Koch HG, Goebeler M, Marquardt T, Roth J, Harms E. Koch HG, et al. Among authors: harms e. Eur J Pediatr. 1998 Apr;157 Suppl 2:S102-6. doi: 10.1007/pl00014294. Eur J Pediatr. 1998. PMID: 9587035 Review.

6

Decreased availability of GDP-L-fucose in a patient with LAD II with normal GDP-D-mannose dehydratase and FX protein activities.

Körner C, Linnebank M, Koch HG, Harms E, von Figura K, Marquardt T. Körner C, et al. Among authors: harms e. J Leukoc Biol. 1999 Jul;66(1):95-8. doi: 10.1002/jlb.66.1.95. J Leukoc Biol. 1999. PMID: 10410995

7

Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts.

Rapp B, Häberle J, Linnebank M, Wermuth B, Marquardt T, Harms E, Koch HG. Rapp B, et al. Among authors: harms e. Eur J Pediatr. 2001 May;160(5):283-7. doi: 10.1007/s004310100725. Eur J Pediatr. 2001. PMID: 11388595

8

Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia.

Marquardt T, Hülskamp G, Gehrmann J, Debus V, Harms E, Kehl HG. Marquardt T, et al. Among authors: harms e. Eur J Pediatr. 2002 Oct;161(10):524-7. doi: 10.1007/s00431-002-1029-2. Epub 2002 Aug 22. Eur J Pediatr. 2002. PMID: 12297897

9

A novel point mutation at codon 269 of the ornithine transcarbamylase (OTC) gene causing neonatal onset of OTC deficiency.

Zimmer KP, Matsuura T, Colombo JP, Koch HG, Ullrich K, Deufel T, Harms E, Matsuda I. Zimmer KP, et al. Among authors: harms e. J Inherit Metab Dis. 1995;18(3):356-7. doi: 10.1007/BF00710430. J Inherit Metab Dis. 1995. PMID: 7474905 No abstract available.

10

Survival after early treatment for carbamyl phosphate synthetase (CPS) I deficiency associated with increase of intramitochondrial CPS I.

Zimmer KP, Naim HY, Koch HG, Colombo JP, Rossi R, Schmid KW, Deufel T, Ullrich K, Harms E. Zimmer KP, et al. Among authors: harms e. Lancet. 1995 Dec 9;346(8989):1530-1. doi: 10.1016/s0140-6736(95)92055-2. Lancet. 1995. PMID: 7491050

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