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Items: 1 to 20 of 96

1.

Newborn screening for Krabbe disease in New York State: the first eight years' experience.

Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, Galvin-Parton P, Kronn DF, Kwon JM, Levy PA, Pellegrino JE, Shur N, Wasserstein MP, Caggana M; New York State Krabbe Disease Consortium.

Genet Med. 2016 Mar;18(3):239-48. doi: 10.1038/gim.2015.211. Epub 2016 Jan 21.

PMID:
26795590
2.

In reply.

Duffner PK, Armstrong FD, Helton K, Brecher ML, Bell B, Chauvenet AR.

J Pediatr Hematol Oncol. 2014 Aug;36(6):501-2. doi: 10.1097/MPH.0000000000000145. No abstract available.

PMID:
24633298
4.

Patterns of magnetic resonance imaging abnormalities in symptomatic patients with Krabbe disease correspond to phenotype.

Abdelhalim AN, Alberico RA, Barczykowski AL, Duffner PK.

Pediatr Neurol. 2014 Feb;50(2):127-34. doi: 10.1016/j.pediatrneurol.2013.10.001. Epub 2013 Oct 11.

PMID:
24262341
5.

Lifetime risk estimators in epidemiological studies of Krabbe Disease: Review and Monte Carlo comparison.

Foss AH, Duffner PK, Carter RL.

Rare Dis. 2013 May 30;1:e25212. doi: 10.4161/rdis.25212. eCollection 2013. Review.

6.

Does galactocerebrosidase activity predict Krabbe phenotype?

Jalal K, Carter R, Yan L, Barczykowski A, Duffner PK.

Pediatr Neurol. 2012 Nov;47(5):324-9. doi: 10.1016/j.pediatrneurol.2012.07.003.

PMID:
23044012
7.

Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases.

Barczykowski AL, Foss AH, Duffner PK, Yan L, Carter RL.

Am J Med Genet A. 2012 Nov;158A(11):2835-42. doi: 10.1002/ajmg.a.35624. Epub 2012 Sep 18.

PMID:
22991292
8.

Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease.

Tanner AK, Chin EL, Duffner PK, Hegde M.

Orphanet J Rare Dis. 2012 Jun 15;7:38. doi: 10.1186/1750-1172-7-38.

9.

Later onset phenotypes of Krabbe disease: results of the world-wide registry.

Duffner PK, Barczykowski A, Kay DM, Jalal K, Yan L, Abdelhalim A, Gill S, Gill AL, Carter R.

Pediatr Neurol. 2012 May;46(5):298-306. doi: 10.1016/j.pediatrneurol.2012.02.023.

PMID:
22520351
10.

Developmental and functional outcomes in children with a positive newborn screen for Krabbe disease: a pilot study of a phone-based interview surveillance technique.

Duffner PK, Granger C, Lyon N, Niewczyk P, Barczykowski A, Bauer S, Msall ME.

J Pediatr. 2012 Aug;161(2):258-63.e1. doi: 10.1016/j.jpeds.2012.01.044. Epub 2012 Feb 28.

PMID:
22381022
11.

Early infantile Krabbe disease: results of the World-Wide Krabbe Registry.

Duffner PK, Barczykowski A, Jalal K, Yan L, Kay DM, Carter RL.

Pediatr Neurol. 2011 Sep;45(3):141-8. doi: 10.1016/j.pediatrneurol.2011.05.007.

PMID:
21824559
12.

Neurodiagnostic evaluation of the child with a simple febrile seizure.

Subcommittee on Febrile Seizures; American Academy of Pediatrics.

Pediatrics. 2011 Feb;127(2):389-94. doi: 10.1542/peds.2010-3318. Review.

PMID:
21285335
13.

Utility of cerebrospinal fluid cytology in newly diagnosed childhood ependymoma.

Moreno L, Pollack IF, Duffner PK, Geyer JR, Grill J, Massimino M, Finlay JL, Zacharoulis S.

J Pediatr Hematol Oncol. 2010 Aug;32(6):515-8. doi: 10.1097/MPH.0b013e3181d7adf5.

PMID:
20463607
14.

Anti-pyretic agents are ineffective in the prevention of febrile seizures.

Duffner PK.

J Pediatr. 2010 Mar;156(3):507-8. doi: 10.1016/j.jpeds.2009.11.066. No abstract available.

PMID:
20176194
15.

Risk factors for cognitive decline in children treated for brain tumors.

Duffner PK.

Eur J Paediatr Neurol. 2010 Mar;14(2):106-15. doi: 10.1016/j.ejpn.2009.10.005. Review.

PMID:
19931477
16.

Early-onset stroke and cerebrovascular disease in adult survivors of childhood cancer.

Jordan LC, Duffner PK.

Neurology. 2009 Dec 1;73(22):1816-7. doi: 10.1212/WNL.0b013e3181c33b10. Epub 2009 Oct 21. No abstract available.

PMID:
19846829
17.

A model in response to newborn screening mandates.

Duffner PK.

Pediatr Neurol. 2009 Aug;41(2):156. doi: 10.1016/j.pediatrneurol.2009.04.007. No abstract available.

PMID:
19589470
18.

The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York.

Duffner PK, Caviness VS Jr, Erbe RW, Patterson MC, Schultz KR, Wenger DA, Whitley C.

Genet Med. 2009 Jun;11(6):450-4. doi: 10.1097/GIM.0b013e3181a16e04.

PMID:
19346954
19.

Newborn screening for Krabbe disease: the New York State model.

Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley CJ, Kurtzberg J, Arnold GL, Escolar ML, Adams DJ, Andriola MR, Aron AM, Ciafaloni E, Djukic A, Erbe RW, Galvin-Parton P, Helton LE, Kolodny EH, Kosofsky BE, Kronn DF, Kwon JM, Levy PA, Miller-Horn J, Naidich TP, Pellegrino JE, Provenzale JM, Rothman SJ, Wasserstein MP.

Pediatr Neurol. 2009 Apr;40(4):245-52; discussion 253-5. doi: 10.1016/j.pediatrneurol.2008.11.010.

PMID:
19302934
20.

The Hunter's Hope Krabbe family database.

Duffner PK, Jalal K, Carter RL.

Pediatr Neurol. 2009 Jan;40(1):13-8. doi: 10.1016/j.pediatrneurol.2008.08.011.

PMID:
19068248

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