Lindner M - Search Results

1

Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders--review and meta-analysis of observational studies published over more than 35 years.

Burgard P, Kölker S, Haege G, Lindner M, Hoffmann GF. Burgard P, et al. Among authors: lindner m. J Inherit Metab Dis. 2016 Mar;39(2):219-29. doi: 10.1007/s10545-015-9901-1. Epub 2015 Dec 3. J Inherit Metab Dis. 2016. PMID: 26634836

2

A severely affected infant with absence of cysteinyl leukotrienes in cerebrospinal fluid: further evidence that leukotriene C4-synthesis deficiency is a new neurometabolic disorder.

Mayatepek E, Lindner M, Zelezny R, Lindner W, Brandstetter G, Hoffmann GF. Mayatepek E, et al. Among authors: lindner w, lindner m. Neuropediatrics. 1999 Feb;30(1):5-7. doi: 10.1055/s-2007-973448. Neuropediatrics. 1999. PMID: 10222453

3

Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism.

Zschocke J, Ruiter JP, Brand J, Lindner M, Hoffmann GF, Wanders RJ, Mayatepek E. Zschocke J, et al. Among authors: lindner m. Pediatr Res. 2000 Dec;48(6):852-5. doi: 10.1203/00006450-200012000-00025. Pediatr Res. 2000. PMID: 11102558

4

Myotonic dystrophy associated with VACTERL? A case report.

Kölker S, Degen I, Koch MC, Lindner M, Haas D, Hoffmann GF. Kölker S, et al. Among authors: lindner m. Neuropediatrics. 2001 Feb;32(1):53-4. doi: 10.1055/s-2001-12220. Neuropediatrics. 2001. PMID: 11318010 No abstract available.

5

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype.

Lindner M, Haas D, Mayatepek E, Zschocke J, Burgard P. Lindner M, et al. Mol Genet Metab. 2001 May;73(1):104-6. doi: 10.1006/mgme.2001.3168. Mol Genet Metab. 2001. PMID: 11350190

6

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: lindner m. Hum Genet. 2001 May;108(5):404-8. doi: 10.1007/s004390100501. Hum Genet. 2001. PMID: 11409868

7

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: lindner m. 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

8

Emergency management of inherited metabolic diseases.

Prietsch V, Lindner M, Zschocke J, Nyhan WL, Hoffmann GF. Prietsch V, et al. Among authors: lindner m. J Inherit Metab Dis. 2002 Nov;25(7):531-46. doi: 10.1023/a:1022040422590. J Inherit Metab Dis. 2002. PMID: 12638937 Review.

9

Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency.

Lindner M, Steinfeld R, Burgard P, Schulze A, Mayatepek E, Zschocke J. Lindner M, et al. Hum Mutat. 2003 Apr;21(4):400. doi: 10.1002/humu.9117. Hum Mutat. 2003. PMID: 12655554

10

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: lindner m. Pediatrics. 2003 Jun;111(6 Pt 1):1399-406. doi: 10.1542/peds.111.6.1399. Pediatrics. 2003. PMID: 12777559

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