Schulze A - Search Results

1

Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.

Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S; Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases Consortia Study Group. Posset R, et al. Among authors: schulze a. Ann Neurol. 2019 Jul;86(1):116-128. doi: 10.1002/ana.25492. Epub 2019 May 13. Ann Neurol. 2019. PMID: 31018246 Free PMC article.

2

Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease?

Mayatepek E, Hoffmann GF, Baumgartner R, Schulze A, Jakobs C, Trefz FK, Bremer HJ. Mayatepek E, et al. Among authors: schulze a. Eur J Pediatr. 1996 May;155(5):398-403. doi: 10.1007/BF01955272. Eur J Pediatr. 1996. PMID: 8741039

3

Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I.

Schulze A, Frommhold D, Hoffmann GF, Mayatepek E. Schulze A, et al. Clin Chem. 2001 Aug;47(8):1424-9. Clin Chem. 2001. PMID: 11468232

4

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. Clin Chim Acta. 2002 Mar;317(1-2):27-37. doi: 10.1016/s0009-8981(01)00736-7. Clin Chim Acta. 2002. PMID: 11814455

5

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: schulze a. 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

6

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: schulze a. Pediatr Res. 2002 Nov;52(5):720-3. doi: 10.1203/00006450-200211000-00018. Pediatr Res. 2002. PMID: 12409519

7

Lack of creatine in muscle and brain in an adult with GAMT deficiency.

Schulze A, Bachert P, Schlemmer H, Harting I, Polster T, Salomons GS, Verhoeven NM, Jakobs C, Fowler B, Hoffmann GF, Mayatepek E. Schulze A, et al. Ann Neurol. 2003 Feb;53(2):248-51. doi: 10.1002/ana.10455. Ann Neurol. 2003. PMID: 12557293

8

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. Among authors: schulze a. Hum Mutat. 2003 Apr;21(4):400. doi: 10.1002/humu.9117. Hum Mutat. 2003. PMID: 12655554

9

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

10

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. Clin Chim Acta. 2003 Sep;335(1-2):137-45. doi: 10.1016/s0009-8981(03)00292-4. Clin Chim Acta. 2003. PMID: 12927695

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