Feigenbaum A - Search Results

1

Late-onset cobalamin-C disorder: a challenging diagnosis.

Ben-Omran TI, Wong H, Blaser S, Feigenbaum A. Ben-Omran TI, et al. Among authors: feigenbaum a. Am J Med Genet A. 2007 May 1;143A(9):979-84. doi: 10.1002/ajmg.a.31671. Am J Med Genet A. 2007. PMID: 17431913

2

A new leukoencephalopathy with brainstem and spinal cord involvement and high lactate.

van der Knaap MS, van der Voorn P, Barkhof F, Van Coster R, Krägeloh-Mann I, Feigenbaum A, Blaser S, Vles JS, Rieckmann P, Pouwels PJ. van der Knaap MS, et al. Among authors: feigenbaum a. Ann Neurol. 2003 Feb;53(2):252-8. doi: 10.1002/ana.10456. Ann Neurol. 2003. PMID: 12557294

3

Canavan disease: carrier-frequency determination in the Ashkenazi Jewish population and development of a novel molecular diagnostic assay.

Feigenbaum A, Moore R, Clarke J, Hewson S, Chitayat D, Ray PN, Stockley TL. Feigenbaum A, et al. Am J Med Genet A. 2004 Jan 15;124A(2):142-7. doi: 10.1002/ajmg.a.20334. Am J Med Genet A. 2004. PMID: 14699612

4

A neuroimaging approach to inborn errors of metabolism.

Blaser S, Feigenbaum A. Blaser S, et al. Among authors: feigenbaum a. Neuroimaging Clin N Am. 2004 May;14(2):307-29, ix. doi: 10.1016/j.nic.2004.03.013. Neuroimaging Clin N Am. 2004. PMID: 15182821 Review.

5

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.

Cameron JM, Levandovskiy V, Mackay N, Raiman J, Renaud DL, Clarke JT, Feigenbaum A, Elpeleg O, Robinson BH. Cameron JM, et al. Among authors: feigenbaum a. Am J Med Genet A. 2006 Jul 15;140(14):1542-52. doi: 10.1002/ajmg.a.31313. Am J Med Genet A. 2006. PMID: 16770810

6

Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness.

Feigenbaum A, Bai RK, Doherty ES, Kwon H, Tan D, Sloane A, Cutz E, Robinson BH, Wong LJ. Feigenbaum A, et al. Am J Med Genet A. 2006 Oct 15;140(20):2216-22. doi: 10.1002/ajmg.a.31436. Am J Med Genet A. 2006. PMID: 16955414

7

Inner ear dysplasia is common in children with Down syndrome (trisomy 21).

Blaser S, Propst EJ, Martin D, Feigenbaum A, James AL, Shannon P, Papsin BC. Blaser S, et al. Among authors: feigenbaum a. Laryngoscope. 2006 Dec;116(12):2113-9. doi: 10.1097/01.mlg.0000245034.77640.4f. Laryngoscope. 2006. PMID: 17146381

8

Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.

Gerth C, Morel CF, Feigenbaum A, Levin AV. Gerth C, et al. Among authors: feigenbaum a. J AAPOS. 2008 Dec;12(6):591-6. doi: 10.1016/j.jaapos.2008.06.008. Epub 2008 Oct 10. J AAPOS. 2008. PMID: 18848477

9

Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations.

Werner KG, Morel CF, Kirton A, Benseler SM, Shoffner JM, Addis JB, Robinson BH, Burrowes DM, Blaser SI, Epstein LG, Feigenbaum AS. Werner KG, et al. Among authors: feigenbaum as. Pediatr Neurol. 2009 Jul;41(1):27-33. doi: 10.1016/j.pediatrneurol.2009.02.010. Pediatr Neurol. 2009. PMID: 19520270

10

A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features.

Koifman A, Feigenbaum A, Bi W, Shaffer LG, Rosenfeld J, Blaser S, Chitayat D. Koifman A, et al. Among authors: feigenbaum a. Am J Med Genet A. 2010 May;152A(5):1268-72. doi: 10.1002/ajmg.a.33319. Am J Med Genet A. 2010. PMID: 20425834

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