Tein I - Search Results

1

CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.

Isackson PJ, Bennett MJ, Lichter-Konecki U, Willis M, Nyhan WL, Sutton VR, Tein I, Vladutiu GD. Isackson PJ, et al. Among authors: tein i. Mol Genet Metab. 2008 Aug;94(4):422-427. doi: 10.1016/j.ymgme.2008.05.002. Epub 2008 Jun 11. Mol Genet Metab. 2008. PMID: 18550408

2

Short-chain acyl-CoA dehydrogenase deficiency: a cause of ophthalmoplegia and multicore myopathy.

Tein I, Haslam RH, Rhead WJ, Bennett MJ, Becker LE, Vockley J. Tein I, et al. Neurology. 1999 Jan 15;52(2):366-72. doi: 10.1212/wnl.52.2.366. Neurology. 1999. PMID: 9932958

3

Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.

Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Leshinsky-Silver E, Vockley J, Berry GT, Lamhonwah AM, Matern D, Roe CR, Gregersen N. Tein I, et al. Mol Genet Metab. 2008 Feb;93(2):179-89. doi: 10.1016/j.ymgme.2007.09.021. Epub 2007 Dec 3. Mol Genet Metab. 2008. PMID: 18054510

4

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: tein i. Muscle Nerve. 2004 Jan;29(1):66-72. doi: 10.1002/mus.10500. Muscle Nerve. 2004. PMID: 14694500

5

Carnitine uptake defect due to a 5'UTR mutation in a pedigree with false positives and false negatives on Newborn screening.

Verbeeten KC, Lamhonwah AM, Bulman D, Faghfoury H, Chakraborty P, Tein I, Geraghty MT. Verbeeten KC, et al. Among authors: tein i. Mol Genet Metab. 2020 Mar;129(3):213-218. doi: 10.1016/j.ymgme.2019.12.006. Epub 2019 Dec 10. Mol Genet Metab. 2020. PMID: 31864849

6

Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis.

Tein I, Christodoulou J, Donner E, McInnes RR. Tein I, et al. J Pediatr. 1994 Jun;124(6):938-40. doi: 10.1016/s0022-3476(05)83187-7. J Pediatr. 1994. PMID: 8201482

7

Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.

Cameron JM, Levandovskiy V, Mackay N, Tein I, Robinson BH. Cameron JM, et al. Among authors: tein i. Am J Med Genet A. 2004 Nov 15;131(1):59-66. doi: 10.1002/ajmg.a.30287. Am J Med Genet A. 2004. PMID: 15384102

8

Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy.

Lamhonwah AM, Olpin SE, Pollitt RJ, Vianey-Saban C, Divry P, Guffon N, Besley GT, Onizuka R, De Meirleir LJ, Cvitanovic-Sojat L, Baric I, Dionisi-Vici C, Fumic K, Maradin M, Tein I. Lamhonwah AM, et al. Among authors: tein i. Am J Med Genet. 2002 Aug 15;111(3):271-84. doi: 10.1002/ajmg.10585. Am J Med Genet. 2002. PMID: 12210323

9

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: tein i. J Clin Invest. 1998 Sep 15;102(6):1193-9. doi: 10.1172/JCI2091. J Clin Invest. 1998. PMID: 9739053 Free PMC article.

10

Clinical and biochemical heterogeneity in an Italian family with CPT II deficiency due to Ser 113 Leu mutation.

Rafay MF, Murphy EG, McGarry JD, Kaufmann P, DiMauro S, Tein I. Rafay MF, et al. Among authors: tein i. Can J Neurol Sci. 2005 Aug;32(3):316-20. doi: 10.1017/s0317167100004194. Can J Neurol Sci. 2005. PMID: 16225172

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