Gebhardt BR - Search Results

1

Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation.

Mayr JA, Merkel O, Kohlwein SD, Gebhardt BR, Böhles H, Fötschl U, Koch J, Jaksch M, Lochmüller H, Horváth R, Freisinger P, Sperl W. Mayr JA, et al. Among authors: gebhardt br. Am J Hum Genet. 2007 Mar;80(3):478-84. doi: 10.1086/511788. Epub 2007 Jan 10. Am J Hum Genet. 2007. PMID: 17273968 Free PMC article.

2

N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria.

Gebhardt B, Vlaho S, Fischer D, Sewell A, Böhles H. Gebhardt B, et al. Mol Genet Metab. 2003 Aug;79(4):303-4. doi: 10.1016/s1096-7192(03)00095-7. Mol Genet Metab. 2003. PMID: 12948747

3

Hyperinsulinaemic hypoglycaemia--leading symptom in a patient with congenital disorder of glycosylation Ia (phosphomannomutase deficiency).

Böhles H, Sewell AA, Gebhardt B, Reinecke-Lüthge A, Klöppel G, Marquardt T. Böhles H, et al. J Inherit Metab Dis. 2001 Dec;24(8):858-62. doi: 10.1023/a:1013944308881. J Inherit Metab Dis. 2001. PMID: 11916319

4

Antibiotic treatment-induced tubular dysfunction as a risk factor for renal stone formation in cystic fibrosis.

Böhles H, Gebhardt B, Beeg T, Sewell AC, Solem E, Posselt G. Böhles H, et al. J Pediatr. 2002 Jan;140(1):103-9. doi: 10.1067/mpd.2002.120694. J Pediatr. 2002. PMID: 11815772

5

Fatal neonatal-onset mitochondrial respiratory chain disease with T cell immunodeficiency.

Reichenbach J, Schubert R, Horvàth R, Petersen J, Fütterer N, Malle E, Stumpf A, Gebhardt BR, Koehl U, Schraven B, Zielen S. Reichenbach J, et al. Among authors: gebhardt br. Pediatr Res. 2006 Sep;60(3):321-6. doi: 10.1203/01.pdr.0000233252.60457.cf. Epub 2006 Jul 20. Pediatr Res. 2006. PMID: 16857757

6

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.

Baumgartner MR, Dantas MF, Suormala T, Almashanu S, Giunta C, Friebel D, Gebhardt B, Fowler B, Hoffmann GF, Baumgartner ER, Valle D. Baumgartner MR, et al. Am J Hum Genet. 2004 Nov;75(5):790-800. doi: 10.1086/425181. Epub 2004 Sep 9. Am J Hum Genet. 2004. PMID: 15359379 Free PMC article.

7

Reflections about possible nutritional supplements in infant milk formula.

Böhles H, Gebhardt B, Beeg T. Böhles H, et al. Z Ernahrungswiss. 1998 Jun;37(2):132-46. doi: 10.1007/pl00007375. Z Ernahrungswiss. 1998. PMID: 9698641 Review.

8

[Present limitations of molecular biological diagnostics in Gillespie syndrome].

Kieslich M, Vanselow K, Wildhardt G, Gebhardt B, Weis R, Böhles H. Kieslich M, et al. Klin Padiatr. 2001 Mar-Apr;213(2):47-9. doi: 10.1055/s-2001-12875. Klin Padiatr. 2001. PMID: 11305191 German.

9

Maternal plasma homocysteine, placenta status and docosahexaenoic acid concentration in erythrocyte phospholipids of the newborn.

Böhles H, Arndt S, Ohlenschläger U, Beeg T, Gebhardt B, Sewell AC. Böhles H, et al. Eur J Pediatr. 1999 Mar;158(3):243-6. doi: 10.1007/s004310051059. Eur J Pediatr. 1999. PMID: 10094448

10

[Diagnostic difficulties in encephalitis and glioma].

Parbel S, Vlaho S, Gebhardt B, Porto L, Hattingen E, Klingebiel T, Böhles H, Kieslich M. Parbel S, et al. Klin Padiatr. 2007 Jul-Aug;219(4):222-4. doi: 10.1055/s-2006-933521. Epub 2006 Jul 24. Klin Padiatr. 2007. PMID: 16865652 German.

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