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Items: 1 to 20 of 125

1.

Psychosine, a marker of Krabbe phenotype and treatment effect.

Escolar ML, Kiely BT, Shawgo E, Hong X, Gelb MH, Orsini JJ, Matern D, Poe MD.

Mol Genet Metab. 2017 Jul;121(3):271-278. doi: 10.1016/j.ymgme.2017.05.015. Epub 2017 May 22.

2.

Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease.

Chuang WL, Pacheco J, Zhang XK, Martin MM, Biski CK, Keutzer JM, Wenger DA, Caggana M, Orsini JJ Jr.

Clin Chim Acta. 2013 Apr 18;419:73-6. doi: 10.1016/j.cca.2013.01.017. Epub 2013 Feb 16.

PMID:
23419961
3.

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
4.

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; 1993-2019.
2000 Jun 19 [updated 2018 Oct 11].

5.

Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease.

Kwon JM, Matern D, Kurtzberg J, Wrabetz L, Gelb MH, Wenger DA, Ficicioglu C, Waldman AT, Burton BK, Hopkins PV, Orsini JJ.

Orphanet J Rare Dis. 2018 Feb 1;13(1):30. doi: 10.1186/s13023-018-0766-x. Review.

6.

Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.

Hossain MA, Otomo T, Saito S, Ohno K, Sakuraba H, Hamada Y, Ozono K, Sakai N.

Gene. 2014 Jan 25;534(2):144-54. doi: 10.1016/j.gene.2013.11.003. Epub 2013 Nov 16.

PMID:
24252386
7.

Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease.

Ribbens JJ, Moser AB, Hubbard WC, Bongarzone ER, Maegawa GH.

Mol Genet Metab. 2014 Feb;111(2):172-83. doi: 10.1016/j.ymgme.2013.09.011. Epub 2013 Sep 21.

8.

Can psychosine and galactocerebrosidase activity predict early-infantile Krabbe's disease presymptomatically?

Carter RL, Wrabetz L, Jalal K, Orsini JJ, Barczykowski AL, Matern D, Langan TJ.

J Neurosci Res. 2016 Nov;94(11):1084-93. doi: 10.1002/jnr.23793.

PMID:
27638594
9.

Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.

Puckett RL, Orsini JJ, Pastores GM, Wang RY, Chang R, Saavedra-Matiz CA, Torres PA, Zeng B, Caggana M, Lorey F, Abdenur JE.

Mol Genet Metab. 2012 Jan;105(1):126-31. doi: 10.1016/j.ymgme.2011.10.010. Epub 2011 Oct 25.

PMID:
22115770
10.

Glycosynthase mediated synthesis of psychosine.

Goddard-Borger ED, Tysoe C, Withers SG.

Carbohydr Res. 2016 Nov 29;435:97-99. doi: 10.1016/j.carres.2016.09.013. Epub 2016 Sep 22.

PMID:
27721144
11.

Krabbe disease: a galactosylsphingosine (psychosine) lipidosis.

Svennerholm L, Vanier MT, Månsson JE.

J Lipid Res. 1980 Jan;21(1):53-64.

12.

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.

13.

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
14.

A galactose-free diet enriched in soy isoflavones and antioxidants results in delayed onset of symptoms of Krabbe disease in twitcher mice.

Pannuzzo G, Cardile V, Costantino-Ceccarini E, Alvares E, Mazzone D, Perciavalle V.

Mol Genet Metab. 2010 Jul;100(3):234-40. doi: 10.1016/j.ymgme.2010.03.021. Epub 2010 Apr 3.

PMID:
20418135
15.

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.

Elliott S, Buroker N, Cournoyer JJ, Potier AM, Trometer JD, Elbin C, Schermer MJ, Kantola J, Boyce A, Turecek F, Gelb MH, Scott CR.

Mol Genet Metab. 2016 Aug;118(4):304-9. doi: 10.1016/j.ymgme.2016.05.015. Epub 2016 May 20.

16.

Galactosylsphingosine (psychosine)-induced demyelination is attenuated by sphingosine 1-phosphate signalling.

O'Sullivan C, Dev KK.

J Cell Sci. 2015 Nov 1;128(21):3878-87. doi: 10.1242/jcs.169342. Epub 2015 Sep 10.

17.
18.

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
19.

Insights into the Pathogenesis and Treatment of Krabbe Disease.

Bongarzone ER, Escolar ML, Gray SJ, Kafri T, Vite CH, Sands MS.

Pediatr Endocrinol Rev. 2016 Jun;13 Suppl 1:689-96. Review.

PMID:
27491217
20.

Implementation of newborn screening for Krabbe disease: population study and cutoff determination.

Orsini JJ, Morrissey MA, Slavin LN, Wojcik M, Biski C, Martin M, Keutzer J, Zhang XK, Chuang WL, Elbin C, Caggana M.

Clin Biochem. 2009 Jun;42(9):877-84. doi: 10.1016/j.clinbiochem.2009.01.022. Epub 2009 Feb 9.

PMID:
19318021

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