Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 44

1.

Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease.

Langan TJ, Orsini JJ, Jalal K, Barczykowski AL, Escolar ML, Poe MD, Biski CK, Carter RL.

Genet Med. 2018 Dec 14. doi: 10.1038/s41436-018-0371-3. [Epub ahead of print]

PMID:
30546085
2.

Krabbe Disease.

Orsini JJ, Escolar ML, Wasserstein MP, Caggana M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2000 Jun 19 [updated 2018 Oct 11].

3.

A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life.

Bascou N, DeRenzo A, Poe MD, Escolar ML.

Orphanet J Rare Dis. 2018 Aug 9;13(1):126. doi: 10.1186/s13023-018-0872-9.

4.

Practical management of behavioral problems in mucopolysaccharidoses disorders.

Escolar ML, Jones SA, Shapiro EG, Horovitz DDG, Lampe C, Amartino H.

Mol Genet Metab. 2017 Dec;122S:35-40. doi: 10.1016/j.ymgme.2017.09.010. Epub 2017 Sep 27. Review.

5.

Treatment of brain disease in the mucopolysaccharidoses.

Scarpa M, Orchard PJ, Schulz A, Dickson PI, Haskins ME, Escolar ML, Giugliani R.

Mol Genet Metab. 2017 Dec;122S:25-34. doi: 10.1016/j.ymgme.2017.10.007. Epub 2017 Oct 16. Review.

6.

Assessments of neurocognitive and behavioral function in the mucopolysaccharidoses.

Shapiro EG, Escolar ML, Delaney KA, Mitchell JJ.

Mol Genet Metab. 2017 Dec;122S:8-16. doi: 10.1016/j.ymgme.2017.09.007. Epub 2017 Sep 15. Review.

7.

Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations - Neurological signs and symptoms.

Shapiro EG, Jones SA, Escolar ML.

Mol Genet Metab. 2017 Dec;122S:1-7. doi: 10.1016/j.ymgme.2017.08.009. Epub 2017 Aug 26. Review.

8.

Developmental outcomes of cord blood transplantation for Krabbe disease: A 15-year study.

Wright MD, Poe MD, DeRenzo A, Haldal S, Escolar ML.

Neurology. 2017 Sep 26;89(13):1365-1372. doi: 10.1212/WNL.0000000000004418. Epub 2017 Aug 30.

9.

Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease.

Liao HC, Spacil Z, Ghomashchi F, Escolar ML, Kurtzberg J, Orsini JJ, Turecek F, Scott CR, Gelb MH.

Clin Chem. 2017 Aug;63(8):1363-1369. doi: 10.1373/clinchem.2016.264952. Epub 2017 Jun 7.

10.

Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.

van der Lee JH, Morton J, Adams HR, Clarke L, Ebbink BJ, Escolar ML, Giugliani R, Harmatz P, Hogan M, Jones S, Kearney S, Muenzer J, Rust S, Semrud-Clikeman M, Wijburg FA, Yu ZF, Janzen D, Shapiro E.

Mol Genet Metab. 2017 Jun;121(2):70-79. doi: 10.1016/j.ymgme.2017.05.004. Epub 2017 May 6.

11.

Early disease progression of Hurler syndrome.

Kiely BT, Kohler JL, Coletti HY, Poe MD, Escolar ML.

Orphanet J Rare Dis. 2017 Feb 14;12(1):32. doi: 10.1186/s13023-017-0583-7.

12.

Forced deflation pulmonary function test: a novel method to evaluate lung function in infants and young children.

Goyal RK, Ibrahimova A, Escolar ML, Szabolcs P, Vander Lugt MT, Windreich RM, Weiner DJ.

Pediatr Blood Cancer. 2017 Apr;64(4). doi: 10.1002/pbc.26356. Epub 2016 Nov 22.

PMID:
27873442
13.

Clinical management of Krabbe disease.

Escolar ML, West T, Dallavecchia A, Poe MD, LaPoint K.

J Neurosci Res. 2016 Nov;94(11):1118-25. doi: 10.1002/jnr.23891. Review.

PMID:
27638597
14.

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.

Genet Med. 2016 Dec;18(12):1235-1243. doi: 10.1038/gim.2016.35. Epub 2016 May 12.

PMID:
27171547
15.

Thickening of the cauda equina roots: a common finding in Krabbe disease.

Hwang M, Zuccoli G, Panigrahy A, Rodriguez D, Poe MD, Escolar ML.

Eur Radiol. 2016 Oct;26(10):3377-82. doi: 10.1007/s00330-016-4233-6. Epub 2016 May 2.

PMID:
27137647
16.

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
17.

Liver transplantation for treatment of severe S-adenosylhomocysteine hydrolase deficiency.

Strauss KA, Ferreira C, Bottiglieri T, Zhao X, Arning E, Zhang S, Zeisel SH, Escolar ML, Presnick N, Puffenberger EG, Vugrek O, Kovacevic L, Wagner C, Mazariegos GV, Mudd SH, Soltys K.

Mol Genet Metab. 2015 Sep-Oct;116(1-2):44-52. doi: 10.1016/j.ymgme.2015.06.005. Epub 2015 Jun 19.

PMID:
26095522
18.

Emerging treatments for pediatric leukodystrophies.

Helman G, Van Haren K, Escolar ML, Vanderver A.

Pediatr Clin North Am. 2015 Jun;62(3):649-66. doi: 10.1016/j.pcl.2015.03.006. Epub 2015 Apr 8. Review.

19.

Midbrain morphology reflects extent of brain damage in Krabbe disease.

Zuccoli G, Narayanan S, Panigrahy A, Poe MD, Escolar ML.

Neuroradiology. 2015 Jul;57(7):739-45. doi: 10.1007/s00234-015-1523-7. Epub 2015 Apr 10.

PMID:
25859833
20.

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.

J Inherit Metab Dis. 2015 Sep;38(5):923-9. doi: 10.1007/s10545-015-9822-z. Epub 2015 Mar 12.

PMID:
25762404

Supplemental Content

Loading ...
Support Center