Hoffmann GF - Search Results

1

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.

Schulze A, Lindner M, Kohlmüller D, Olgemöller K, Mayatepek E, Hoffmann GF. Schulze A, et al. Among authors: hoffmann gf. Pediatrics. 2003 Jun;111(6 Pt 1):1399-406. doi: 10.1542/peds.111.6.1399. Pediatrics. 2003. PMID: 12777559

2

Evaluation of 6-year application of the enzymatic colorimetric phenylalanine assay in the setting of neonatal screening for phenylketonuria.

Schulze A, Mayatepek E, Hoffmann GF. Schulze A, et al. Among authors: hoffmann gf. Clin Chim Acta. 2002 Mar;317(1-2):27-37. doi: 10.1016/s0009-8981(01)00736-7. Clin Chim Acta. 2002. PMID: 11814455

3

A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency.

Okun JG, Kölker S, Schulze A, Kohlmüller D, Olgemöller K, Lindner M, Hoffmann GF, Wanders RJ, Mayatepek E. Okun JG, et al. Among authors: hoffmann gf. Biochim Biophys Acta. 2002 Oct 10;1584(2-3):91-8. doi: 10.1016/s1388-1981(02)00296-2. Biochim Biophys Acta. 2002. PMID: 12385891

4

Acylcarnitine profiles of preterm infants over the first four weeks of life.

Meyburg J, Schulze A, Kohlmueller D, Pöschl J, Linderkamp O, Hoffmann GF, Mayatepek E. Meyburg J, et al. Among authors: hoffmann gf. Pediatr Res. 2002 Nov;52(5):720-3. doi: 10.1203/00006450-200211000-00018. Pediatr Res. 2002. PMID: 12409519

5

Incidence and short-term outcome of children with symptomatic presentation of organic acid and fatty acid oxidation disorders in Germany.

Klose DA, Kölker S, Heinrich B, Prietsch V, Mayatepek E, von Kries R, Hoffmann GF. Klose DA, et al. Among authors: hoffmann gf. Pediatrics. 2002 Dec;110(6):1204-11. doi: 10.1542/peds.110.6.1204. Pediatrics. 2002. PMID: 12456920

6

Accurate measurement of free carnitine in dried blood spots by isotope-dilution electrospray tandem mass spectrometry without butylation.

Schulze A, Schmidt C, Kohlmüller D, Hoffmann GF, Mayatepek E. Schulze A, et al. Among authors: hoffmann gf. Clin Chim Acta. 2003 Sep;335(1-2):137-45. doi: 10.1016/s0009-8981(03)00292-4. Clin Chim Acta. 2003. PMID: 12927695

7

Frequencies of inherited organic acidurias and disorders of mitochondrial fatty acid transport and oxidation in Germany.

Hoffmann GF, von Kries R, Klose D, Lindner M, Schulze A, Muntau AC, Röschinger W, Liebl B, Mayatepek E, Roscher AA. Hoffmann GF, et al. Eur J Pediatr. 2004 Feb;163(2):76-80. doi: 10.1007/s00431-003-1246-3. Epub 2004 Jan 9. Eur J Pediatr. 2004. PMID: 14714182

8

The diagnosis of mitochondrial HMG-CoA synthase deficiency.

Zschocke J, Penzien JM, Bielen R, Casals N, Aledo R, Pié J, Hoffmann GF, Hegardt FG, Mayatepek E. Zschocke J, et al. Among authors: hoffmann gf. J Pediatr. 2002 Jun;140(6):778-80. doi: 10.1067/mpd.2002.123854. J Pediatr. 2002. PMID: 12072887

9

Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.

Prietsch V, Mayatepek E, Krastel H, Haas D, Zundel D, Waterham HR, Wanders RJ, Gibson KM, Hoffmann GF. Prietsch V, et al. Among authors: hoffmann gf. Pediatrics. 2003 Feb;111(2):258-61. doi: 10.1542/peds.111.2.258. Pediatrics. 2003. PMID: 12563048

10

Quantitative acylcarnitine profiling in peripheral blood mononuclear cells using in vitro loading with palmitic and 2-oxoadipic acids: biochemical confirmation of fatty acid oxidation and organic acid disorders.

Schulze-Bergkamen A, Okun JG, Spiekerkötter U, Lindner M, Haas D, Kohlmüller D, Mayatepek E, Schulze-Bergkamen H, Greenberg CR, Zschocke J, Hoffmann GF, Kölker S. Schulze-Bergkamen A, et al. Among authors: hoffmann gf. Pediatr Res. 2005 Nov;58(5):873-80. doi: 10.1203/01.PDR.0000181378.98593.3E. Epub 2005 Sep 23. Pediatr Res. 2005. PMID: 16183823

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