Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 209

1.

Rare Saposin A deficiency: Novel variant and psychosine analysis.

Calderwood L, Wenger DA, Matern D, Dahmoush H, Watiker V, Lee C.

Mol Genet Metab. 2019 Aug 5. pii: S1096-7192(19)30410-X. doi: 10.1016/j.ymgme.2019.08.001. [Epub ahead of print]

PMID:
31439510
2.

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis.

Lund TC, Miller WP, Eisengart JB, Simmons K, Pollard L, Renaud DL, Wenger DA, Patterson MC, Orchard PJ.

Mol Genet Genomic Med. 2019 Jul;7(7):e00712. doi: 10.1002/mgg3.712. Epub 2019 May 21.

3.

A closer look at ARSA activity in a patient with metachromatic leukodystrophy.

Doherty K, Frazier SB, Clark M, Childers A, Pruthi S, Wenger DA, Duis J.

Mol Genet Metab Rep. 2019 Feb 20;19:100460. doi: 10.1016/j.ymgmr.2019.100460. eCollection 2019 Jun.

4.

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.

Beltran-Quintero ML, Bascou NA, Poe MD, Wenger DA, Saavedra-Matiz CA, Nichols MJ, Escolar ML.

Orphanet J Rare Dis. 2019 Feb 18;14(1):46. doi: 10.1186/s13023-019-1018-4.

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.

AAVrh10 Gene Therapy Ameliorates Central and Peripheral Nervous System Disease in Canine Globoid Cell Leukodystrophy (Krabbe Disease).

Bradbury AM, Rafi MA, Bagel JH, Brisson BK, Marshall MS, Pesayco Salvador J, Jiang X, Swain GP, Prociuk ML, ODonnell PA, Fitzgerald C, Ory DS, Bongarzone ER, Shelton GD, Wenger DA, Vite CH.

Hum Gene Ther. 2018 Jul;29(7):785-801. doi: 10.1089/hum.2017.151. Epub 2018 Mar 14.

7.

GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB.

Kolicheski A, Johnson GS, Villani NA, O'Brien DP, Mhlanga-Mutangadura T, Wenger DA, Mikoloski K, Eagleson JS, Taylor JF, Schnabel RD, Katz ML.

J Vet Intern Med. 2017 Sep;31(5):1520-1526. doi: 10.1111/jvim.14794. Epub 2017 Aug 20.

8.

Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease.

Saavedra-Matiz CA, Luzi P, Nichols M, Orsini JJ, Caggana M, Wenger DA.

J Neurosci Res. 2016 Nov;94(11):1076-83. doi: 10.1002/jnr.23905.

PMID:
27638593
9.

Krabbe disease: One Hundred years from the bedside to the bench to the bedside.

Wenger DA, Rafi MA, Luzi P.

J Neurosci Res. 2016 Nov;94(11):982-9. doi: 10.1002/jnr.23743. Review.

PMID:
27638583
10.

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
11.

A Patient With Atypical Multiple Sulfatase Deficiency.

Miskin C, Melvin JJ, Legido A, Wenger DA, Harasink SM, Khurana DS.

Pediatr Neurol. 2016 Apr;57:98-100. doi: 10.1016/j.pediatrneurol.2015.10.023. Epub 2015 Dec 24.

PMID:
26825355
12.

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
13.

Long-term Improvements in Lifespan and Pathology in CNS and PNS After BMT Plus One Intravenous Injection of AAVrh10-GALC in Twitcher Mice.

Rafi MA, Rao HZ, Luzi P, Wenger DA.

Mol Ther. 2015 Nov;23(11):1681-1690. doi: 10.1038/mt.2015.145. Epub 2015 Sep 2.

14.

Reprint of: Preclinical characterization of DUOC-01, a cell therapy product derived from banked umbilical cord blood for use as an adjuvant to umbilical cord blood transplantation for treatment of inherited metabolic diseases.

Kurtzberg J, Buntz S, Gentry T, Noeldner P, Ozamiz A, Rusche B, Storms RW, Wollish A, Wenger DA, Balber AE.

Cytotherapy. 2015 Sep;17(9):1314-26. doi: 10.1016/j.jcyt.2015.07.014.

PMID:
26276011
15.

Enzyme replacement therapy of a novel humanized mouse model of globoid cell leukodystrophy.

Matthes F, Andersson C, Stein A, Eistrup C, Fogh J, Gieselmann V, Wenger DA, Matzner U.

Exp Neurol. 2015 Sep;271:36-45. doi: 10.1016/j.expneurol.2015.04.020. Epub 2015 May 6.

PMID:
25956830
16.

Preclinical characterization of DUOC-01, a cell therapy product derived from banked umbilical cord blood for use as an adjuvant to umbilical cord blood transplantation for treatment of inherited metabolic diseases.

Kurtzberg J, Buntz S, Gentry T, Noeldner P, Ozamiz A, Rusche B, Storms RW, Wollish A, Wenger DA, Balber AE.

Cytotherapy. 2015 Jun;17(6):803-815. doi: 10.1016/j.jcyt.2015.02.006. Epub 2015 Mar 12.

17.

Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of clinical features.

Rafi MA, Rao HZ, Luzi P, Luddi A, Curtis MT, Wenger DA.

Mol Genet Metab. 2015 Mar;114(3):459-66. doi: 10.1016/j.ymgme.2014.12.300. Epub 2014 Dec 11.

PMID:
25533112
18.

Iminosugar-based galactoside mimics as inhibitors of galactocerebrosidase: SAR studies and comparison with other lysosomal galactosidases.

Biela-Banaś A, Oulaïdi F, Front S, Gallienne E, Ikeda-Obatake K, Asano N, Wenger DA, Martin OR.

ChemMedChem. 2014 Dec;9(12):2647-52. doi: 10.1002/cmdc.201402411. Epub 2014 Nov 5.

PMID:
25377381
19.

Lysosomal storage diseases: heterogeneous group of disorders.

Wenger DA, Luzi P, Rafi MA.

Bioimpacts. 2013;3(4):145-7. doi: 10.5681/bi.2013.029. Epub 2013 Dec 2.

20.

Krabbe disease: are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations?

Wenger DA, Luzi P, Rafi MA.

Mol Genet Metab. 2014 Mar;111(3):307-308. doi: 10.1016/j.ymgme.2013.12.009. Epub 2013 Dec 19. No abstract available.

PMID:
24388568
21.

Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.

Luzi P, Rafi MA, Rao HZ, Wenger DA.

Gene. 2013 Nov 10;530(2):323-8. doi: 10.1016/j.gene.2013.08.065. Epub 2013 Aug 31.

PMID:
24001781
22.

Sphingomyelin lipidosis (Niemann-Pick disease) in a juvenile raccoon (Procyon lotor).

Vapniarsky N, Wenger DA, Scheenstra D, Mete A.

J Comp Pathol. 2013 Aug-Oct;149(2-3):385-9. doi: 10.1016/j.jcpa.2013.01.011. Epub 2013 Apr 10.

PMID:
23582974
23.

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
24.

GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: a potential model for Tay Sachs disease.

Sanders DN, Zeng R, Wenger DA, Johnson GS, Johnson GC, Decker JE, Katz ML, Platt SR, O'Brien DP.

Mol Genet Metab. 2013 Jan;108(1):70-5. doi: 10.1016/j.ymgme.2012.11.008. Epub 2012 Nov 27.

PMID:
23266199
25.

Extended normal life after AAVrh10-mediated gene therapy in the mouse model of Krabbe disease.

Rafi MA, Rao HZ, Luzi P, Curtis MT, Wenger DA.

Mol Ther. 2012 Nov;20(11):2031-42. doi: 10.1038/mt.2012.153. Epub 2012 Jul 31.

26.

Patient with unilateral white matter involvement does not have Krabbe disease.

Van der Knaap MS, Wenger DA.

Arch Neurol. 2011 Oct;68(10):1345. doi: 10.1001/archneurol.2011.222. No abstract available.

PMID:
21987556
27.

Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.

Mahmood A, Berry J, Wenger DA, Escolar M, Sobeih M, Raymond G, Eichler FS.

J Child Neurol. 2010 May;25(5):572-80. doi: 10.1177/0883073809341669. Epub 2009 Dec 28. Review.

28.

Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy.

Luzi P, Abraham RM, Rafi MA, Curtis M, Hooper DC, Wenger DA.

Brain Res. 2009 Dec 1;1300:146-58. doi: 10.1016/j.brainres.2009.09.017. Epub 2009 Sep 11.

29.

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
30.

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
31.

Significant correction of pathology in brains of twitcher mice following injection of genetically modified mouse neural progenitor cells.

Strazza M, Luddi A, Carbone M, Rafi MA, Costantino-Ceccarini E, Wenger DA.

Mol Genet Metab. 2009 May;97(1):27-34. doi: 10.1016/j.ymgme.2009.01.005. Epub 2009 Feb 12.

PMID:
19217332
32.

Sphingomyelinase deficiency (Niemann-Pick disease) in a Hereford calf.

Saunders GK, Wenger DA.

Vet Pathol. 2008 Mar;45(2):201-2. doi: 10.1354/vp.45-2-201.

PMID:
18424834
33.

Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis.

Brunetti-Pierri N, Bhattacharjee MB, Wang ZJ, Zili Chu, Wenger DA, Potocki L, Hunter J, Scaglia F.

J Child Neurol. 2008 Jan;23(1):73-8. doi: 10.1177/0883073807307088.

PMID:
18184943
34.

Intrinsic resistance of neural stem cells to toxic metabolites may make them well suited for cell non-autonomous disorders: evidence from a mouse model of Krabbe leukodystrophy.

Taylor RM, Lee JP, Palacino JJ, Bower KA, Li J, Vanier MT, Wenger DA, Sidman RL, Snyder EY.

J Neurochem. 2006 Jun;97(6):1585-99.

35.

Galactocerebrosidase-deficient oligodendrocytes maintain stable central myelin by exogenous replacement of the missing enzyme in mice.

Kondo Y, Wenger DA, Gallo V, Duncan ID.

Proc Natl Acad Sci U S A. 2005 Dec 20;102(51):18670-5. Epub 2005 Dec 13.

36.
37.

Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation.

Luzi P, Rafi MA, Zaka M, Rao HZ, Curtis M, Vanier MT, Wenger DA.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):150-9.

PMID:
16169269
38.

Abnormal neuronal metabolism and storage in mucopolysaccharidosis type VI (Maroteaux-Lamy) disease.

Walkley SU, Thrall MA, Haskins ME, Mitchell TW, Wenger DA, Brown DE, Dial S, Seim H.

Neuropathol Appl Neurobiol. 2005 Oct;31(5):536-44.

PMID:
16150124
39.
40.

Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease.

Escolar ML, Poe MD, Provenzale JM, Richards KC, Allison J, Wood S, Wenger DA, Pietryga D, Wall D, Champagne M, Morse R, Krivit W, Kurtzberg J.

N Engl J Med. 2005 May 19;352(20):2069-81.

41.

Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005].

Wilcox WR, Wenger DA, Lachman RS, Rimoin DL.

Am J Med Genet A. 2005 Jun 15;135(3):333. No abstract available.

PMID:
15887286
42.

AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy.

Rafi MA, Zhi Rao H, Passini MA, Curtis M, Vanier MT, Zaka M, Luzi P, Wolfe JH, Wenger DA.

Mol Ther. 2005 May;11(5):734-44.

43.

Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.

Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA.

Mol Genet Metab. 2004 Jun;82(2):137-43.

PMID:
15172001
45.

Cord-blood transplants from unrelated donors in patients with Hurler's syndrome.

Staba SL, Escolar ML, Poe M, Kim Y, Martin PL, Szabolcs P, Allison-Thacker J, Wood S, Wenger DA, Rubinstein P, Hopwood JJ, Krivit W, Kurtzberg J.

N Engl J Med. 2004 May 6;350(19):1960-9.

46.

Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation.

Grewal SS, Shapiro EG, Krivit W, Charnas L, Lockman LA, Delaney KA, Davies SM, Wenger DA, Rimell FL, Abel S, Grovas AC, Orchard PJ, Wagner JE, Peters C.

J Pediatr. 2004 May;144(5):569-73.

PMID:
15126988
47.
48.

Cell-type-specific gene delivery into neuronal cells in vitro and in vivo.

Parveen Z, Mukhtar M, Rafi M, Wenger DA, Siddiqui KM, Siler CA, Dietzschold B, Pomerantz RJ, Schnell MJ, Dornburg R.

Virology. 2003 Sep 15;314(1):74-83.

49.

Mutation analysis of feline Niemann-Pick C1 disease.

Somers KL, Royals MA, Carstea ED, Rafi MA, Wenger DA, Thrall MA.

Mol Genet Metab. 2003 Jun;79(2):99-103.

PMID:
12809639

Supplemental Content

Loading ...
Support Center