Roschinger W - Search Results

1

Three siblings with nonketotic hyperglycinaemia, mildly elevated plasma homocysteine concentrations and moderate methylmalonic aciduria.

Randak C, Roschinger W, Rolinski B, Hadorn HB, Applegarth DA, Roscher AA. Randak C, et al. Among authors: roschinger w. J Inherit Metab Dis. 2000 Jul;23(5):520-2. doi: 10.1023/a:1005667707355. J Inherit Metab Dis. 2000. PMID: 10947210 No abstract available.

2

Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.

Schnabel E, Kölker S, Gleich F, Feyh P, Hörster F, Haas D, Fang-Hoffmann J, Morath M, Gramer G, Röschinger W, Garbade SF, Hoffmann GF, Okun JG, Mütze U. Schnabel E, et al. Among authors: roschinger w. Nutrients. 2023 Jul 28;15(15):3355. doi: 10.3390/nu15153355. Nutrients. 2023. PMID: 37571294 Free PMC article.

3

Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.

Röschinger W, Muntau AC, Rudolph G, Roscher AA, Kammerer S. Röschinger W, et al. Mol Genet Metab. 2000 Mar;69(3):213-22. doi: 10.1006/mgme.1999.2955. Mol Genet Metab. 2000. PMID: 10767176

4

[Model project for updating neonatal screening in Bavaria: concept and initial results].

Liebl B, Fingerhut R, Röschinger W, Muntau A, Knerr I, Olgemöller B, Zapf A, Roscher AA. Liebl B, et al. Among authors: roschinger w. Gesundheitswesen. 2000 Apr;62(4):189-95. doi: 10.1055/s-2000-10856. Gesundheitswesen. 2000. PMID: 10844815 German.

5

Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle.

Röschinger W, Muntau AC, Duran M, Dorland L, IJlst L, Wanders RJ, Roscher AA. Röschinger W, et al. Clin Chim Acta. 2000 Aug;298(1-2):55-68. doi: 10.1016/s0009-8981(00)00268-0. Clin Chim Acta. 2000. PMID: 10876004

6

Combined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?

Muntau AC, Röschinger W, Merkenschlager A, van der Knaap MS, Jakobs C, Duran M, Hoffmann GF, Roscher AA. Muntau AC, et al. Among authors: roschinger w. Neuropediatrics. 2000 Jun;31(3):137-40. doi: 10.1055/s-2000-7497. Neuropediatrics. 2000. PMID: 10963100

7

Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency.

Holzinger A, Röschinger W, Lagler F, Mayerhofer PU, Lichtner P, Kattenfeld T, Thuy LP, Nyhan WL, Koch HG, Muntau AC, Roscher AA. Holzinger A, et al. Among authors: roschinger w. Hum Mol Genet. 2001 Jun 1;10(12):1299-306. doi: 10.1093/hmg/10.12.1299. Hum Mol Genet. 2001. PMID: 11406611

8

Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific.

Fingerhut R, Röschinger W, Muntau AC, Dame T, Kreischer J, Arnecke R, Superti-Furga A, Troxler H, Liebl B, Olgemöller B, Roscher AA. Fingerhut R, et al. Among authors: roschinger w. Clin Chem. 2001 Oct;47(10):1763-8. Clin Chem. 2001. PMID: 11568084

9

Age-related reference values for serum selenium concentrations in infants and children.

Muntau AC, Streiter M, Kappler M, Röschinger W, Schmid I, Rehnert A, Schramel P, Roscher AA. Muntau AC, et al. Among authors: roschinger w. Clin Chem. 2002 Mar;48(3):555-60. Clin Chem. 2002. PMID: 11861447

10

Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria.

Muntau AC, Röschinger W, Habich M, Demmelmair H, Hoffmann B, Sommerhoff CP, Roscher AA. Muntau AC, et al. Among authors: roschinger w. N Engl J Med. 2002 Dec 26;347(26):2122-32. doi: 10.1056/NEJMoa021654. N Engl J Med. 2002. PMID: 12501224 Free article. Clinical Trial.

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