Schulze A - Search Results

1

Prevalence of Creatine Deficiency Syndromes in Children With Nonsyndromic Autism.

Schulze A, Bauman M, Tsai AC, Reynolds A, Roberts W, Anagnostou E, Cameron J, Nozzolillo AA, Chen S, Kyriakopoulou L, Scherer SW, Loh A. Schulze A, et al. Pediatrics. 2016 Jan;137(1). doi: 10.1542/peds.2015-2672. Epub 2015 Dec 18. Pediatrics. 2016. PMID: 26684475

2

Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism.

Schulze A, Hess T, Wevers R, Mayatepek E, Bachert P, Marescau B, Knopp MV, De Deyn PP, Bremer HJ, Rating D. Schulze A, et al. J Pediatr. 1997 Oct;131(4):626-31. doi: 10.1016/s0022-3476(97)70075-1. J Pediatr. 1997. PMID: 9386672

3

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

4

Creatine deficiency syndromes.

Schulze A. Schulze A. Mol Cell Biochem. 2003 Feb;244(1-2):143-50. Mol Cell Biochem. 2003. PMID: 12701824 Review.

5

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

6

GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis.

Mercimek-Mahmutoglu S, Stoeckler-Ipsiroglu S, Adami A, Appleton R, Araújo HC, Duran M, Ensenauer R, Fernandez-Alvarez E, Garcia P, Grolik C, Item CB, Leuzzi V, Marquardt I, Mühl A, Saelke-Kellermann RA, Salomons GS, Schulze A, Surtees R, van der Knaap MS, Vasconcelos R, Verhoeven NM, Vilarinho L, Wilichowski E, Jakobs C. Mercimek-Mahmutoglu S, et al. Among authors: schulze a. Neurology. 2006 Aug 8;67(3):480-4. doi: 10.1212/01.wnl.0000234852.43688.bf. Epub 2006 Jul 19. Neurology. 2006. PMID: 16855203

7

Pre-symptomatic treatment of creatine biosynthesis defects.

Schulze A, Battini R. Schulze A, et al. Subcell Biochem. 2007;46:167-81. doi: 10.1007/978-1-4020-6486-9_9. Subcell Biochem. 2007. PMID: 18652077 Review.

8

Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype.

Cameron JM, Maj M, Levandovskiy V, Barnett CP, Blaser S, Mackay N, Raiman J, Feigenbaum A, Schulze A, Robinson BH. Cameron JM, et al. Among authors: schulze a. Hum Genet. 2009 Apr;125(3):319-26. doi: 10.1007/s00439-009-0629-6. Epub 2009 Jan 30. Hum Genet. 2009. PMID: 19184109

9

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.

Cameron JM, Levandovskiy V, Mackay N, Ackerley C, Chitayat D, Raiman J, Halliday WH, Schulze A, Robinson BH. Cameron JM, et al. Among authors: schulze a. Mitochondrion. 2011 Jan;11(1):191-9. doi: 10.1016/j.mito.2010.09.008. Epub 2010 Oct 30. Mitochondrion. 2011. PMID: 20920610

10

Mitochondrial citrate synthase crystals: novel finding in Sengers syndrome caused by acylglycerol kinase (AGK) mutations.

Siriwardena K, Mackay N, Levandovskiy V, Blaser S, Raiman J, Kantor PF, Ackerley C, Robinson BH, Schulze A, Cameron JM. Siriwardena K, et al. Among authors: schulze a. Mol Genet Metab. 2013 Jan;108(1):40-50. doi: 10.1016/j.ymgme.2012.11.282. Epub 2012 Dec 3. Mol Genet Metab. 2013. PMID: 23266196

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