Koch HG - 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: koch hg. 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

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: koch hg. J Clin Invest. 1998 Apr 1;101(7):1414-20. doi: 10.1172/JCI2350. J Clin Invest. 1998. PMID: 9525984 Free PMC article.

3

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. Eur J Pediatr. 1998 Apr;157 Suppl 2:S102-6. doi: 10.1007/pl00014294. Eur J Pediatr. 1998. PMID: 9587035 Review.

4

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: koch hg. J Leukoc Biol. 1999 Jul;66(1):95-8. doi: 10.1002/jlb.66.1.95. J Leukoc Biol. 1999. PMID: 10410995

5

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: koch hg. Eur J Pediatr. 2001 May;160(5):283-7. doi: 10.1007/s004310100725. Eur J Pediatr. 2001. PMID: 11388595

6

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: koch hg. Lancet. 1995 Dec 9;346(8989):1530-1. doi: 10.1016/s0140-6736(95)92055-2. Lancet. 1995. PMID: 7491050

7

Renal Fanconi syndrome: first sign of partial respiratory chain complex IV deficiency.

Kuwertz-Bröking E, Koch HG, Marquardt T, Rossi R, Helmchen U, Müller-Höcker J, Harms E, Bulla M. Kuwertz-Bröking E, et al. Among authors: koch hg. Pediatr Nephrol. 2000 Jun;14(6):495-8. doi: 10.1007/s004670050802. Pediatr Nephrol. 2000. PMID: 10872193

8

Acute and chronic pancreatitis in patients with inborn errors of metabolism.

Simon P, Weiss FU, Zimmer KP, Koch HG, Lerch MM. Simon P, et al. Among authors: koch hg. Pancreatology. 2001;1(5):448-56. doi: 10.1159/000055846. Pancreatology. 2001. PMID: 12120223 Review.

9

Successful hematopoietic stem cell transplantation in Farber disease.

Vormoor J, Ehlert K, Groll AH, Koch HG, Frosch M, Roth J. Vormoor J, et al. Among authors: koch hg. J Pediatr. 2004 Jan;144(1):132-4. doi: 10.1016/j.jpeds.2003.09.051. J Pediatr. 2004. PMID: 14722533

10

Carbohydrate-deficient glycoprotein syndrome type I: determination of the oligosaccharide structure of newly synthesized glycoproteins by analysis of calnexin binding.

Marquardt T, Ullrich K, Niehues R, Koch HG, Harms E. Marquardt T, et al. Among authors: koch hg. J Inherit Metab Dis. 1996;19(2):246-50. doi: 10.1007/BF01799441. J Inherit Metab Dis. 1996. PMID: 8739977 No abstract available.

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