Strauss AW - Search Results

1

Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.

Spiekerkoetter U, Bennett MJ, Ben-Zeev B, Strauss AW, Tein I. Spiekerkoetter U, et al. Among authors: strauss aw. Muscle Nerve. 2004 Jan;29(1):66-72. doi: 10.1002/mus.10500. Muscle Nerve. 2004. PMID: 14694500

2

Molecular and phenotypic heterogeneity in mitochondrial trifunctional protein deficiency due to beta-subunit mutations.

Spiekerkoetter U, Sun B, Khuchua Z, Bennett MJ, Strauss AW. Spiekerkoetter U, et al. Among authors: strauss aw. Hum Mutat. 2003 Jun;21(6):598-607. doi: 10.1002/humu.10211. Hum Mutat. 2003. PMID: 12754706

3

General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover.

Spiekerkoetter U, Khuchua Z, Yue Z, Bennett MJ, Strauss AW. Spiekerkoetter U, et al. Among authors: strauss aw. Pediatr Res. 2004 Feb;55(2):190-6. doi: 10.1203/01.PDR.0000103931.80055.06. Epub 2003 Nov 19. Pediatr Res. 2004. PMID: 14630990

4

Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations.

Spiekerkoetter U, Eeds A, Yue Z, Haines J, Strauss AW, Summar M. Spiekerkoetter U, et al. Among authors: strauss aw. Hum Mutat. 2002 Dec;20(6):447-51. doi: 10.1002/humu.10142. Hum Mutat. 2002. PMID: 12442268

5

Fetal genotypes and pregnancy outcomes in 35 families with mitochondrial trifunctional protein mutations.

Yang Z, Zhao Y, Bennett MJ, Strauss AW, Ibdah JA. Yang Z, et al. Among authors: strauss aw. Am J Obstet Gynecol. 2002 Sep;187(3):715-20. doi: 10.1067/mob.2002.125893. Am J Obstet Gynecol. 2002. PMID: 12237653

6

MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency.

Spiekerkoetter U, Sun B, Zytkovicz T, Wanders R, Strauss AW, Wendel U. Spiekerkoetter U, et al. Among authors: strauss aw. J Pediatr. 2003 Sep;143(3):335-42. doi: 10.1067/S0022-3476(03)00292-0. J Pediatr. 2003. PMID: 14517516

7

Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies.

Hintz SR, Matern D, Strauss A, Bennett MJ, Hoyme HE, Schelley S, Kobori J, Colby C, Lehman NL, Enns GM. Hintz SR, et al. Mol Genet Metab. 2002 Feb;75(2):120-7. doi: 10.1006/mgme.2001.3282. Mol Genet Metab. 2002. PMID: 11855930

8

Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation.

Ibdah JA, Tein I, Dionisi-Vici C, Bennett MJ, IJlst L, Gibson B, Wanders RJ, Strauss AW. Ibdah JA, et al. Among authors: strauss aw. J Clin Invest. 1998 Sep 15;102(6):1193-9. doi: 10.1172/JCI2091. J Clin Invest. 1998. PMID: 9739053 Free PMC article.

9

Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice.

Spiekerkoetter U, Tokunaga C, Wendel U, Mayatepek E, Ijlst L, Vaz FM, van Vlies N, Overmars H, Duran M, Wijburg FA, Wanders RJ, Strauss AW. Spiekerkoetter U, et al. Among authors: strauss aw. Pediatr Res. 2005 Jun;57(6):760-4. doi: 10.1203/01.PDR.0000157915.26049.47. Epub 2005 Mar 17. Pediatr Res. 2005. PMID: 15774826

10

Molecular prenatal diagnosis in families with fetal mitochondrial trifunctional protein mutations.

Ibdah JA, Zhao Y, Viola J, Gibson B, Bennett MJ, Strauss AW. Ibdah JA, et al. Among authors: strauss aw. J Pediatr. 2001 Mar;138(3):396-9. doi: 10.1067/mpd.2001.111503. J Pediatr. 2001. PMID: 11241049

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