Ullrich K - Search Results

1

Severely altered guanidino compound levels, disturbed body weight homeostasis and impaired fertility in a mouse model of guanidinoacetate N-methyltransferase (GAMT) deficiency.

Schmidt A, Marescau B, Boehm EA, Renema WK, Peco R, Das A, Steinfeld R, Chan S, Wallis J, Davidoff M, Ullrich K, Waldschütz R, Heerschap A, De Deyn PP, Neubauer S, Isbrandt D. Schmidt A, et al. Among authors: ullrich k. Hum Mol Genet. 2004 May 1;13(9):905-21. doi: 10.1093/hmg/ddh112. Epub 2004 Mar 17. Hum Mol Genet. 2004. PMID: 15028668

2

MR spectroscopy of muscle and brain in guanidinoacetate methyltransferase (GAMT)-deficient mice: validation of an animal model to study creatine deficiency.

Renema WK, Schmidt A, van Asten JJ, Oerlemans F, Ullrich K, Wieringa B, Isbrandt D, Heerschap A. Renema WK, et al. Among authors: ullrich k. Magn Reson Med. 2003 Nov;50(5):936-43. doi: 10.1002/mrm.10627. Magn Reson Med. 2003. PMID: 14587004 Free article.

3

Upregulation of respiratory chain enzymes in guanidinoacetate methyltransferase deficiency.

Das AM, Ullrich K, Isbrandt D. Das AM, et al. Among authors: ullrich k. J Inherit Metab Dis. 2000 Jun;23(4):375-7. doi: 10.1023/a:1005643617251. J Inherit Metab Dis. 2000. PMID: 10896298 No abstract available.

4

Activation of GABA(A) receptors by guanidinoacetate: a novel pathophysiological mechanism.

Neu A, Neuhoff H, Trube G, Fehr S, Ullrich K, Roeper J, Isbrandt D. Neu A, et al. Among authors: ullrich k. Neurobiol Dis. 2002 Nov;11(2):298-307. doi: 10.1006/nbdi.2002.0547. Neurobiol Dis. 2002. PMID: 12505422

5

Dysregulation of the mitochondrial ATP-synthase in respiratory chain defects: first experience.

Das AM, Ullrich K. Das AM, et al. Among authors: ullrich k. J Inherit Metab Dis. 1998 Jun;21(3):220-3. doi: 10.1023/a:1005395417041. J Inherit Metab Dis. 1998. PMID: 9686361 No abstract available.

6

Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations.

Steinfeld R, Heim P, von Gregory H, Meyer K, Ullrich K, Goebel HH, Kohlschütter A. Steinfeld R, et al. Among authors: ullrich k. Am J Med Genet. 2002 Nov 1;112(4):347-54. doi: 10.1002/ajmg.10660. Am J Med Genet. 2002. PMID: 12376936

7

Glutaric aciduria I: creatine supplementation restores creatinephosphate levels in mixed cortex cells from rat incubated with 3-hydroxyglutarate.

Das AM, Lücke T, Ullrich K. Das AM, et al. Among authors: ullrich k. Mol Genet Metab. 2003 Feb;78(2):108-11. doi: 10.1016/s1096-7192(02)00227-5. Mol Genet Metab. 2003. PMID: 12618082

8

Infantile cobalamin deficiency with cerebral lactate accumulation and sustained choline depletion.

Horstmann M, Neumaier-Probst E, Lukacs Z, Steinfeld R, Ullrich K, Kohlschütter A. Horstmann M, et al. Among authors: ullrich k. Neuropediatrics. 2003 Jun;34(5):261-4. doi: 10.1055/s-2003-43256. Neuropediatrics. 2003. PMID: 14598232

9

Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls.

Das AM, Fingerhut R, Wanders RJ, Ullrich K. Das AM, et al. Among authors: ullrich k. Eur J Pediatr. 2000 Apr;159(4):243-6. doi: 10.1007/s004310050063. Eur J Pediatr. 2000. PMID: 10789927

10

Tetrahydrobiopterin monotherapy for phenylketonuria patients with common mild mutations.

Steinfeld R, Kohlschütter A, Zschocke J, Lindner M, Ullrich K, Lukacs Z. Steinfeld R, et al. Among authors: ullrich k. Eur J Pediatr. 2002 Jul;161(7):403-5. doi: 10.1007/s00431-002-0966-0. Eur J Pediatr. 2002. PMID: 12174822

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