Duffner P - Search Results

1

Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease.

Turgeon CT, Orsini JJ, Sanders KA, Magera MJ, Langan TJ, Escolar ML, Duffner P, Oglesbee D, Gavrilov D, Tortorelli S, Rinaldo P, Raymond K, Matern D. Turgeon CT, et al. Among authors: duffner p. J Inherit Metab Dis. 2015 Sep;38(5):923-9. doi: 10.1007/s10545-015-9822-z. Epub 2015 Mar 12. J Inherit Metab Dis. 2015. PMID: 25762404

2

Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State.

Wasserstein MP, Andriola M, Arnold G, Aron A, Duffner P, Erbe RW, Escolar ML, Estrella L, Galvin-Parton P, Iglesias A, Kay DM, Kronn DF, Kurtzberg J, Kwon JM, Langan TJ, Levy PA, Naidich TP, Orsini JJ, Pellegrino JE, Provenzale JM, Wenger DA, Caggana M. Wasserstein MP, et al. Among authors: duffner p. Genet Med. 2016 Dec;18(12):1235-1243. doi: 10.1038/gim.2016.35. Epub 2016 May 12. Genet Med. 2016. PMID: 27171547 Free article.

3

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. Orsini JJ, et al. Among authors: duffner pk. Genet Med. 2016 Mar;18(3):239-48. doi: 10.1038/gim.2015.211. Epub 2016 Jan 21. Genet Med. 2016. PMID: 26795590 Free article.

4

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. Duffner PK, et al. Pediatr Neurol. 2009 Apr;40(4):245-52; discussion 253-5. doi: 10.1016/j.pediatrneurol.2008.11.010. Pediatr Neurol. 2009. PMID: 19302934

5

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

Tanner AK, Chin EL, Duffner PK, Hegde M. Tanner AK, et al. Orphanet J Rare Dis. 2012 Jun 15;7:38. doi: 10.1186/1750-1172-7-38. Orphanet J Rare Dis. 2012. PMID: 22704718 Free PMC article.

6

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. Duffner PK, et al. J Pediatr. 2012 Aug;161(2):258-63.e1. doi: 10.1016/j.jpeds.2012.01.044. Epub 2012 Feb 28. J Pediatr. 2012. PMID: 22381022

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. Barczykowski AL, et al. Among authors: duffner pk. Am J Med Genet A. 2012 Nov;158A(11):2835-42. doi: 10.1002/ajmg.a.35624. Epub 2012 Sep 18. Am J Med Genet A. 2012. PMID: 22991292

8

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. Duffner PK, et al. Genet Med. 2009 Jun;11(6):450-4. doi: 10.1097/GIM.0b013e3181a16e04. Genet Med. 2009. PMID: 19346954 Free article.

9

Does galactocerebrosidase activity predict Krabbe phenotype?

Jalal K, Carter R, Yan L, Barczykowski A, Duffner PK. Jalal K, et al. Among authors: duffner pk. Pediatr Neurol. 2012 Nov;47(5):324-9. doi: 10.1016/j.pediatrneurol.2012.07.003. Pediatr Neurol. 2012. PMID: 23044012

10

A model in response to newborn screening mandates.

Duffner PK. Duffner PK. Pediatr Neurol. 2009 Aug;41(2):156. doi: 10.1016/j.pediatrneurol.2009.04.007. Pediatr Neurol. 2009. PMID: 19589470 No abstract available.

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