Schweitzer S - Search Results

1

Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.

Vaz FM, Scholte HR, Ruiter J, Hussaarts-Odijk LM, Pereira RR, Schweitzer S, de Klerk JB, Waterham HR, Wanders RJ. Vaz FM, et al. Among authors: schweitzer s. Hum Genet. 1999 Jul-Aug;105(1-2):157-61. doi: 10.1007/s004399900105. Hum Genet. 1999. PMID: 10480371

2

Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: a novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality.

Burwinkel B, Kreuder J, Schweitzer S, Vorgerd M, Gempel K, Gerbitz KD, Kilimann MW. Burwinkel B, et al. Among authors: schweitzer s. Biochem Biophys Res Commun. 1999 Aug 2;261(2):484-7. doi: 10.1006/bbrc.1999.1060. Biochem Biophys Res Commun. 1999. PMID: 10425211

3

Seventeen novel mutations that cause profound biotinidase deficiency.

Wolf B, Jensen K, Hüner G, Demirkol M, Baykal T, Divry P, Rolland MO, Perez-Cerdá C, Ugarte M, Straussberg R, Basel-Vanagaite L, Baumgartner ER, Suormala T, Scholl S, Das AM, Schweitzer S, Pronicka E, Sykut-Cegielska J. Wolf B, et al. Among authors: schweitzer s. Mol Genet Metab. 2002 Sep-Oct;77(1-2):108-11. doi: 10.1016/s1096-7192(02)00149-x. Mol Genet Metab. 2002. PMID: 12359137

4

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

Veiga-da-Cunha M, Gerin I, Chen YT, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, McConkie-Rosell A, Schweitzer S, Vikkula M, Van Schaftingen E. Veiga-da-Cunha M, et al. Among authors: schweitzer s. Am J Hum Genet. 1998 Oct;63(4):976-83. doi: 10.1086/302068. Am J Hum Genet. 1998. PMID: 9758626 Free PMC article.

5

Comparison of patients with complete and partial biotinidase deficiency: biochemical studies.

Suormala TM, Baumgartner ER, Wick H, Scheibenreiter S, Schweitzer S. Suormala TM, et al. Among authors: schweitzer s. J Inherit Metab Dis. 1990;13(1):76-92. doi: 10.1007/BF01799335. J Inherit Metab Dis. 1990. PMID: 2109151

6

Biotinidase Km-variants: detection and detailed biochemical investigations.

Suormala T, Ramaekers VT, Schweitzer S, Fowler B, Laub MC, Schwermer C, Bachmann J, Baumgartner ER. Suormala T, et al. Among authors: schweitzer s. J Inherit Metab Dis. 1995;18(6):689-700. doi: 10.1007/BF02436758. J Inherit Metab Dis. 1995. PMID: 8750606

7

[Biotinidase deficiency. Results of neonatal screening 1985-1989 in Lower Saxony].

Schweitzer S, Sander J, Suormala T, Baumgartner R, Byrd DJ, Brodehl J. Schweitzer S, et al. Monatsschr Kinderheilkd. 1991 Jun;139(6):349-54. Monatsschr Kinderheilkd. 1991. PMID: 1896047 German.

8

D-2-hydroxyglutaric aciduria: further clinical delineation.

van der Knaap MS, Jakobs C, Hoffmann GF, Duran M, Muntau AC, Schweitzer S, Kelley RI, Parrot-Roulaud F, Amiel J, De Lonlay P, Rabier D, Eeg-Olofsson O. van der Knaap MS, et al. Among authors: schweitzer s. J Inherit Metab Dis. 1999 Jun;22(4):404-13. doi: 10.1023/a:1005548005393. J Inherit Metab Dis. 1999. PMID: 10407777

9

Long-term outcome in 134 patients with galactosaemia.

Schweitzer S, Shin Y, Jakobs C, Brodehl J. Schweitzer S, et al. Eur J Pediatr. 1993 Jan;152(1):36-43. doi: 10.1007/BF02072514. Eur J Pediatr. 1993. PMID: 8444204

10

[Psychosocial aspects of the treatment of phenylketonuria].

Schweitzer S, Wolff G, Brodehl J. Schweitzer S, et al. Klin Padiatr. 1987 Mar-Apr;199(2):90-4. doi: 10.1055/s-2008-1026769. Klin Padiatr. 1987. PMID: 3586565 German.

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