Hoffmann GF - Search Results

1

Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria.

Mayatepek E, Wanders RJ, Becker M, Bremer HJ, Hoffmann GF. Mayatepek E, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 1995;18(2):249-52. doi: 10.1007/BF00711780. J Inherit Metab Dis. 1995. PMID: 7564260 No abstract available.

2

Macrocephaly: an important indication for organic acid analysis.

Hoffmann GF, Trefz FK, Barth PG, Böhles HJ, Lehnert W, Christensen E, Valk J, Rating D, Bremer HJ. Hoffmann GF, et al. J Inherit Metab Dis. 1991;14(3):329-32. doi: 10.1007/BF01811695. J Inherit Metab Dis. 1991. PMID: 1770785 No abstract available.

3

5-Oxoprolinase deficiency associated with severe psychomotor developmental delay, failure to thrive, microcephaly and microcytic anaemia.

Mayatepek E, Hoffmann GF, Larsson A, Becker K, Bremer HJ. Mayatepek E, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 1995;18(1):83-4. doi: 10.1007/BF00711382. J Inherit Metab Dis. 1995. PMID: 7542714 No abstract available.

4

SSIEM Award. Impaired metabolism of leukotrienes in inherited metabolic disorders.

Mayatepek E, Hoffmann GF. Mayatepek E, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 1994;17(3):263-6. doi: 10.1007/BF00711803. J Inherit Metab Dis. 1994. PMID: 7807929 Clinical Trial. No abstract available.

5

Enhanced excretion of urinary leukotriene E4 in mevalonic aciduria is not caused by an impaired peroxisomal degradation of cysteinyl leukotrienes.

Mayatepek E, Tiepelmann B, Hoffmann GF. Mayatepek E, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 1997 Sep;20(5):721-2. doi: 10.1023/a:1005351215690. J Inherit Metab Dis. 1997. PMID: 9323576 No abstract available.

6

Hyperuricaemia and medium-chain acyl-CoA dehydrogenase deficiency.

Mayatepek E, Koch HG, Hoffmann GF. Mayatepek E, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 1997 Nov;20(6):842-3. doi: 10.1023/a:1005300708445. J Inherit Metab Dis. 1997. PMID: 9427160 No abstract available.

7

Defects in the synthesis of cysteinyl leukotrienes: a new group of inborn errors of metabolism.

Mayatepek E, Zelezny R, Lehmann WD, Hammond JW, Hoffmann GF. Mayatepek E, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2000 Jun;23(4):404-8. doi: 10.1023/a:1005664204956. J Inherit Metab Dis. 2000. PMID: 10896305 No abstract available.

8

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

9

Genetic cause and prevalence of hydroxyprolinemia.

Staufner C, Haack TB, Feyh P, Gramer G, Raga DE, Terrile C, Sauer S, Okun JG, Fang-Hoffmann J, Mayatepek E, Prokisch H, Hoffmann GF, Kölker S. Staufner C, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2016 Sep;39(5):625-632. doi: 10.1007/s10545-016-9940-2. Epub 2016 May 2. J Inherit Metab Dis. 2016. PMID: 27139199

10

Molecular and functional characterisation of mild MCAD deficiency.

Zschocke J, Schulze A, Lindner M, Fiesel S, Olgemöller K, Hoffmann GF, Penzien J, Ruiter JP, Wanders RJ, Mayatepek E. Zschocke J, et al. Among authors: hoffmann gf. Hum Genet. 2001 May;108(5):404-8. doi: 10.1007/s004390100501. Hum Genet. 2001. PMID: 11409868

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