Steinmann B - Search Results

1

Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects.

Lam JT, Martín MG, Turk E, Hirayama BA, Bosshard NU, Steinmann B, Wright EM. Lam JT, et al. Among authors: steinmann b. Biochim Biophys Acta. 1999 Feb 24;1453(2):297-303. doi: 10.1016/s0925-4439(98)00109-4. Biochim Biophys Acta. 1999. PMID: 10036327 Free article.

2

Case report: liver glycogen synthase deficiency--a cause of ketotic hypoglycemia.

Rutledge SL, Atchison J, Bosshard NU, Steinmann B. Rutledge SL, et al. Among authors: steinmann b. Pediatrics. 2001 Aug;108(2):495-7. doi: 10.1542/peds.108.2.495. Pediatrics. 2001. PMID: 11483824

3

Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants.

Yam GH, Bosshard N, Zuber C, Steinmann B, Roth J. Yam GH, et al. Among authors: steinmann b. Am J Physiol Cell Physiol. 2006 Apr;290(4):C1076-82. doi: 10.1152/ajpcell.00426.2005. Am J Physiol Cell Physiol. 2006. PMID: 16531566 Free article.

4

Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.

Paesold-Burda P, Baumgartner MR, Santer R, Bosshard NU, Steinmann B. Paesold-Burda P, et al. Among authors: steinmann b. J Inherit Metab Dis. 2007 Nov;30(6):896-902. doi: 10.1007/s10545-007-0734-4. Epub 2007 Nov 12. J Inherit Metab Dis. 2007. PMID: 17994282 Free article.

5

Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene.

Balmer C, Ballhausen D, Bosshard NU, Steinmann B, Boltshauser E, Bauersfeld U, Superti-Furga A. Balmer C, et al. Among authors: steinmann b. Eur J Pediatr. 2005 Aug;164(8):509-14. doi: 10.1007/s00431-005-1678-z. Epub 2005 May 12. Eur J Pediatr. 2005. PMID: 15889279

6

Severe lymphatic microangiopathy in Fabry disease.

Amann-Vesti BR, Gitzelmann G, Widmer U, Bosshard NU, Steinmann B, Koppensteiner R. Amann-Vesti BR, et al. Among authors: steinmann b. Lymphat Res Biol. 2003;1(3):185-9. doi: 10.1089/153968503768330229. Lymphat Res Biol. 2003. PMID: 15624436

7

A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy.

Steet RA, Hullin R, Kudo M, Martinelli M, Bosshard NU, Schaffner T, Kornfeld S, Steinmann B. Steet RA, et al. Among authors: steinmann b. Am J Med Genet A. 2005 Feb 1;132A(4):369-75. doi: 10.1002/ajmg.a.30498. Am J Med Genet A. 2005. PMID: 15633164

8

Leigh syndrome due to compound heterozygosity of dihydrolipoamide dehydrogenase gene mutations. Description of the first E3 splice site mutation.

Grafakou O, Oexle K, van den Heuvel L, Smeets R, Trijbels F, Goebel HH, Bosshard N, Superti-Furga A, Steinmann B, Smeitink J. Grafakou O, et al. Among authors: steinmann b. Eur J Pediatr. 2003 Oct;162(10):714-8. doi: 10.1007/s00431-003-1282-z. Epub 2003 Aug 19. Eur J Pediatr. 2003. PMID: 12925875

9

Mass spectrometric analysis of human transferrin in different body fluids.

Kleinert P, Kuster T, Durka S, Ballhausen D, Bosshard NU, Steinmann B, Hänseler E, Jaeken J, Heizmann CW, Troxler H. Kleinert P, et al. Among authors: steinmann b. Clin Chem Lab Med. 2003 Dec;41(12):1580-8. doi: 10.1515/CCLM.2003.241. Clin Chem Lab Med. 2003. PMID: 14708882

10

Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.

Santer R, Schneppenheim R, Dombrowski A, Götze H, Steinmann B, Schaub J. Santer R, et al. Among authors: steinmann b. Nat Genet. 1997 Nov;17(3):324-6. doi: 10.1038/ng1197-324. Nat Genet. 1997. PMID: 9354798

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