D'Aco K - Search Results

1

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry.

D'Aco K, Underhill L, Rangachari L, Arn P, Cox GF, Giugliani R, Okuyama T, Wijburg F, Kaplan P. D'Aco K, et al. Eur J Pediatr. 2012 Jun;171(6):911-9. doi: 10.1007/s00431-011-1644-x. Epub 2012 Jan 11. Eur J Pediatr. 2012. PMID: 22234477 Free PMC article.

2

Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes.

Glatz C, D'Aco K, Smith S, Sondheimer N. Glatz C, et al. Mitochondrion. 2011 Jul;11(4):615-9. doi: 10.1016/j.mito.2011.04.003. Epub 2011 Apr 20. Mitochondrion. 2011. PMID: 21540128 Free PMC article.

3

Mitochondrial tRNA(Phe) mutation as a cause of end-stage renal disease in childhood.

D'Aco KE, Manno M, Clarke C, Ganesh J, Meyers KE, Sondheimer N. D'Aco KE, et al. Pediatr Nephrol. 2013 Mar;28(3):515-9. doi: 10.1007/s00467-012-2354-y. Epub 2012 Nov 8. Pediatr Nephrol. 2013. PMID: 23135609 Free PMC article.

4

Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease.

Cocanougher B, Aypar U, McDonald A, Hasadsri L, Bennett MJ, Edward Highsmith W, D'Aco K. Cocanougher B, et al. Among authors: d aco k. Mol Genet Metab Rep. 2015 Jan 21;2:61-64. doi: 10.1016/j.ymgmr.2014.12.004. eCollection 2015 Mar. Mol Genet Metab Rep. 2015. PMID: 28649529 Free PMC article.

5

WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.

DeSanto C, D'Aco K, Araujo GC, Shannon N; DDD Study; Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B, Shinawi M. DeSanto C, et al. Among authors: d aco k. J Med Genet. 2015 Nov;52(11):754-61. doi: 10.1136/jmedgenet-2015-103069. Epub 2015 Aug 11. J Med Genet. 2015. PMID: 26264232

6

Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.

D'Aco KE, Bearden D, Watkins D, Hyland K, Rosenblatt DS, Ficicioglu C. D'Aco KE, et al. Pediatr Neurol. 2014 Aug;51(2):266-70. doi: 10.1016/j.pediatrneurol.2014.04.005. Epub 2014 Apr 13. Pediatr Neurol. 2014. PMID: 25079578

7

Clinical neurogenetics: neurologic presentations of metabolic disorders.

Kwon JM, D'Aco KE. Kwon JM, et al. Among authors: d aco ke. Neurol Clin. 2013 Nov;31(4):1031-50. doi: 10.1016/j.ncl.2013.04.005. Epub 2013 Aug 8. Neurol Clin. 2013. PMID: 24176422 Review.

8

Biochemical and computational analyses of two phenotypically related GALT mutations (S222N and S135L) that lead to atypical galactosemia.

Cocanougher B, Aypar U, McDonald A, Hasadsri L, Bennett MJ, Edward Highsmith W, D׳Aco K. Cocanougher B, et al. Data Brief. 2015 Feb 7;3:34-9. doi: 10.1016/j.dib.2015.01.001. eCollection 2015 Jun. Data Brief. 2015. PMID: 26217714 Free PMC article.

9

An 8-year-old girl with a history of stiff and painful joints.

Raiman J, D'Aco K. Raiman J, et al. Among authors: d aco k. Pediatr Ann. 2014 Aug;43(8):307-9. doi: 10.3928/00904481-20140723-05. Pediatr Ann. 2014. PMID: 25102484 No abstract available.

10

What is in the can? The dilemma with dietary supplements.

D'Aco K, Mooney R, Cusmano-Ozog K, Hofherr S, Lichter-Konecki U. D'Aco K, et al. Mol Genet Metab. 2014 Dec;113(4):239-40. doi: 10.1016/j.ymgme.2014.10.009. Epub 2014 Oct 22. Mol Genet Metab. 2014. PMID: 25453401 No abstract available.

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