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Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses.

Kazi ZB, Prater SN, Kobori JA, Viskochil D, Bailey C, Gera R, Stockton DW, McIntosh P, Rosenberg AS, Kishnani PS.

JCI Insight. 2016 Jul 21;1(11). pii: e86821.


221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.

Bentler K, Zhai S, Elsbecker SA, Arnold GL, Burton BK, Vockley J, Cameron CA, Hiner SJ, Edick MJ, Berry SA; Inborn Errors of Metabolism Collaborative.

Mol Genet Metab. 2016 Jul 15. pii: S1096-7192(16)30124-X. doi: 10.1016/j.ymgme.2016.07.002. [Epub ahead of print]


Physical therapy management of infants and children with hypophosphatasia.

Phillips D, Case LE, Griffin D, Hamilton K, Lara SL, Leiro B, Monfreda J, Westlake E, Kishnani PS.

Mol Genet Metab. 2016 Jun 22. pii: S1096-7192(16)30119-6. doi: 10.1016/j.ymgme.2016.06.010. [Epub ahead of print]


Starch Binding Domain-containing Protein 1 Plays a Dominant Role in Glycogen Transport to Lysosomes in Liver.

Sun T, Yi H, Yang C, Kishnani PS, Sun B.

J Biol Chem. 2016 Aug 5;291(32):16479-84. doi: 10.1074/jbc.C116.741397. Epub 2016 Jun 29.


A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV.

Yi H, Zhang Q, Yang C, Kishnani PS, Sun B.

JIMD Rep. 2016 Jun 26. [Epub ahead of print]


Death from supine asphyxia in late onset pompe disease: Two patients.

Kansagra S, Austin S, DeArmey S, Koeberl D, Kishnani PS.

Am J Med Genet A. 2016 Jul;170(7):1928-9. doi: 10.1002/ajmg.a.37687. Epub 2016 May 4. No abstract available.


New observation of sialuria prompts detection of liver tumor in previously reported patient.

Champaigne NL, Leroy JG, Kishnani PS, Decaestecker J, Steenkiste E, Chaubey A, Li J, Verslype C, Van Dorpe J, Pollard L, Goldstein JL, Libbrecht L, Basehore M, Chen N, Hu H, Wood T, Friez MJ, Huizing M, Stevenson RE.

Mol Genet Metab. 2016 Jun;118(2):92-9. doi: 10.1016/j.ymgme.2016.04.004. Epub 2016 Apr 16.


Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.

Mori M, Bailey LA, Estrada J, Rehder CW, Li JS, Rogers JG, Bali DS, Buckley AF, Kishnani PS.

JIMD Rep. 2016 May 4. [Epub ahead of print]


Safety and efficacy of rivastigmine in children with Down syndrome: A double blind placebo controlled trial.

Spiridigliozzi GA, Hart SJ, Heller JH, Schneider HE, Baker JA, Weadon C, Capone GT, Kishnani PS.

Am J Med Genet A. 2016 Jun;170(6):1545-55. doi: 10.1002/ajmg.a.37650. Epub 2016 Apr 8.


A role for plasma cell targeting agents in immune tolerance induction in autoimmune disease and antibody responses to therapeutic proteins.

Rosenberg AS, Pariser AR, Diamond B, Yao L, Turka LA, Lacana E, Kishnani PS.

Clin Immunol. 2016 Apr;165:55-9. doi: 10.1016/j.clim.2016.02.009. Epub 2016 Feb 27. Review.


Natural Progression of Canine Glycogen Storage Disease Type IIIa.

Brooks ED, Yi H, Austin SL, Thurberg BL, Young SP, Fyfe JC, Kishnani PS, Sun B.

Comp Med. 2016 Feb;66(1):41-51.


Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.

Bali DS, Goldstein JL, Rehder C, Kazi ZB, Berrier KL, Dai J, Kishnani PS.

Mol Genet Metab Rep. 2015 Dec 1;5:76-79.


Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction.

Kishnani PS, Dickson PI, Muldowney L, Lee JJ, Rosenberg A, Abichandani R, Bluestone JA, Burton BK, Dewey M, Freitas A, Gavin D, Griebel D, Hogan M, Holland S, Tanpaiboon P, Turka LA, Utz JJ, Wang YM, Whitley CB, Kazi ZB, Pariser AR.

Mol Genet Metab. 2016 Feb;117(2):66-83. doi: 10.1016/j.ymgme.2015.11.001. Epub 2015 Nov 10. Review.


A beta-blocker, propranolol, decreases the efficacy from enzyme replacement therapy in Pompe disease.

Han SO, Pope R, Li S, Kishnani PS, Steet R, Koeberl DD.

Mol Genet Metab. 2016 Feb;117(2):114-9. doi: 10.1016/j.ymgme.2015.09.012. Epub 2015 Oct 3.


Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States.

Balwani M, Burrow TA, Charrow J, Goker-Alpan O, Kaplan P, Kishnani PS, Mistry P, Ruskin J, Weinreb N.

Mol Genet Metab. 2016 Feb;117(2):95-103. doi: 10.1016/j.ymgme.2015.09.002. Epub 2015 Sep 7. Review.


Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining.

Jones HN, Crisp KD, Robey RR, Case LE, Kravitz RM, Kishnani PS.

Mol Genet Metab. 2016 Feb;117(2):120-8. doi: 10.1016/j.ymgme.2015.09.003. Epub 2015 Sep 8.


CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.

Berrier KL, Kazi ZB, Prater SN, Bali DS, Goldstein J, Stefanescu MC, Rehder CW, Botha EG, Ellaway C, Bhattacharya K, Tylki-Szymanska A, Karabul N, Rosenberg AS, Kishnani PS.

Genet Med. 2015 Jul;17(7):596. doi: 10.1038/gim.2015.57. No abstract available.


Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort.

Hobson-Webb LD, Austin SL, Jain S, Case LE, Greene K, Kishnani PS.

Am J Case Rep. 2015 Apr 3;16:196-201. doi: 10.12659/AJCR.893309.


Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.

Pena LD, Proia AD, Kishnani PS.

JIMD Rep. 2015;23:45-54. doi: 10.1007/8904_2015_426. Epub 2015 Mar 13.


CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.

Berrier KL, Kazi ZB, Prater SN, Bali DS, Goldstein J, Stefanescu MC, Rehder CW, Botha EG, Ellaway C, Bhattacharya K, Tylki-Szymanska A, Karabul N, Rosenberg AS, Kishnani PS.

Genet Med. 2015 Nov;17(11):912-8. doi: 10.1038/gim.2015.6. Epub 2015 Mar 5. Erratum in: Genet Med. 2015 Jul;17(7):596. Rosenburg, Amy S [corrected to Rosenberg, Amy S].

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