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Items: 1 to 20 of 111

1.

Long-term comparative effectiveness of pegvaliase versus standard of care comparators in adults with phenylketonuria.

Zori R, Ahring K, Burton B, Pastores GM, Rutsch F, Jha A, Jurecki E, Rowell R, Harding C.

Mol Genet Metab. 2019 Sep - Oct;128(1-2):92-101. doi: 10.1016/j.ymgme.2019.07.018. Epub 2019 Aug 7.

2.

Metallosis mimicking a metabolic disorder: a case report.

Stepien KM, Abidin Z, Lee G, Cullen R, Logan P, Pastores GM.

Mol Genet Metab Rep. 2018 Sep 25;17:38-41. doi: 10.1016/j.ymgmr.2018.09.005. eCollection 2018 Dec.

3.

Extensive Right Ventricular Scarring on Cardiac MRI in Danon's Cardiomyopathy.

Healy GM, McInerney A, Fabre A, Pastores GM, Quinn M, McDonald K, Dodd JD.

Heart Lung Circ. 2018 Nov;27(11):e113-e114. doi: 10.1016/j.hlc.2018.05.192. Epub 2018 Jun 23. No abstract available.

PMID:
30042052
4.

Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.

Stepien KM, McCarthy P, Treacy EP, O'Byrne JJ, Pastores GM.

Mol Genet Metab Rep. 2018 Jun 22;16:31-35. doi: 10.1016/j.ymgmr.2018.06.005. eCollection 2018 Sep.

5.

Gaucher Disease.

Pastores GM, Hughes DA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2000 Jul 27 [updated 2018 Jun 21].

6.

The benefits of a Neurogenetics clinic in an adult Academic Teaching Hospital.

Olszewska DA, McVeigh T, Fallon EM, Pastores GM, Lynch T.

Ir J Med Sci. 2018 Nov;187(4):1073-1076. doi: 10.1007/s11845-018-1784-3. Epub 2018 Mar 9.

PMID:
29524103
7.

Taliglucerase alfa: safety and efficacy across 6 clinical studies in adults and children with Gaucher disease.

Zimran A, Wajnrajch M, Hernandez B, Pastores GM.

Orphanet J Rare Dis. 2018 Feb 23;13(1):36. doi: 10.1186/s13023-018-0776-8. Review.

8.

Chitinase-3-like Protein 1: A Progranulin Downstream Molecule and Potential Biomarker for Gaucher Disease.

Jian J, Chen Y, Liberti R, Fu W, Hu W, Saunders-Pullman R, Pastores GM, Chen Y, Sun Y, Grabowski GA, Liu CJ.

EBioMedicine. 2018 Feb;28:251-260. doi: 10.1016/j.ebiom.2018.01.022. Epub 2018 Jan 31.

9.

Spotlight on taliglucerase alfa in the treatment of pediatric patients with type 1 Gaucher disease.

Gupta P, Pastores GM.

Pediatric Health Med Ther. 2017 Jun 16;8:73-81. doi: 10.2147/PHMT.S93634. eCollection 2017. Review.

10.

Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1.

Stepien KM, Pastores GM, Hendroff U, McCormick C, Fitzimons P, Khawaja N, Borovickova I, Treacy EP.

JIMD Rep. 2018;41:29-36. doi: 10.1007/8904_2017_81. Epub 2018 Jan 3.

11.

Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa.

Berger KI, Burton BK, Lewis GD, Tarnopolsky M, Harmatz PR, Mitchell JJ, Muschol N, Jones SA, Sutton VR, Pastores GM, Lau H, Sparkes R, Shaywitz AJ.

JIMD Rep. 2018;42:9-17. doi: 10.1007/8904_2017_70. Epub 2017 Nov 21.

12.

Lysosomal Storage Disorders and Malignancy.

Pastores GM, Hughes DA.

Diseases. 2017 Feb 27;5(1). pii: E8. doi: 10.3390/diseases5010008. Review.

13.

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.

Mehta A, Belmatoug N, Bembi B, Deegan P, Elstein D, Göker-Alpan Ö, Lukina E, Mengel E, Nakamura K, Pastores GM, Pérez-López J, Schwartz I, Serratrice C, Szer J, Zimran A, Di Rocco M, Panahloo Z, Kuter DJ, Hughes D.

Mol Genet Metab. 2017 Nov;122(3):122-129. doi: 10.1016/j.ymgme.2017.08.002. Epub 2017 Aug 4.

14.

Response to request by journal editorship from Blood Cells, Molecules and Diseases in reference to a "Dear Editor" letter to the Pastores et al. paper, 2016.

Pastores GM, Turkia HB, Gonzalez DE, Ida H, Tantawy AAG, Qin Y, Qiu Y, Dinh Q, Zimran A.

Blood Cells Mol Dis. 2017 Jun;65:71-72. doi: 10.1016/j.bcmd.2017.04.004. Epub 2017 Apr 13. No abstract available.

PMID:
28576608
15.

Glucosylsphingosine is a key biomarker of Gaucher disease.

Murugesan V, Chuang WL, Liu J, Lischuk A, Kacena K, Lin H, Pastores GM, Yang R, Keutzer J, Zhang K, Mistry PK.

Am J Hematol. 2016 Nov;91(11):1082-1089. doi: 10.1002/ajh.24491. Epub 2016 Aug 8.

16.

Home infusion of intravenous velaglucerase alfa: Experience from pooled clinical studies in 104 patients with type 1 Gaucher disease.

Elstein D, Burrow TA, Charrow J, Giraldo P, Mehta A, Pastores GM, Lee HM, Mellgard B, Zimran A.

Mol Genet Metab. 2017 Jan - Feb;120(1-2):111-115. doi: 10.1016/j.ymgme.2016.08.005. Epub 2016 Aug 23.

17.

Unique medical issues in adult patients with mucopolysaccharidoses.

Mitchell J, Berger KI, Borgo A, Braunlin EA, Burton BK, Ghotme KA, Kircher SG, Molter D, Orchard PJ, Palmer J, Pastores GM, Rapoport DM, Wang RY, White K.

Eur J Intern Med. 2016 Oct;34:2-10. doi: 10.1016/j.ejim.2016.05.017. Epub 2016 Jun 11. Review.

18.

Development of anti-velaglucerase alfa antibodies in clinical trial-treated patients with Gaucher disease.

Pastores GM, Turkia HB, Gonzalez DE, Ida H, Tantawy AA, Qin Y, Qiu Y, Dinh Q, Zimran A.

Blood Cells Mol Dis. 2016 Jul;59:37-43. doi: 10.1016/j.bcmd.2016.03.004. Epub 2016 Mar 5.

19.

Clinical course and prognosis in patients with Gaucher disease and parkinsonism.

Lopez G, Kim J, Wiggs E, Cintron D, Groden C, Tayebi N, Mistry PK, Pastores GM, Zimran A, Goker-Alpan O, Sidransky E.

Neurol Genet. 2016 Mar 4;2(2):e57. doi: 10.1212/NXG.0000000000000057. eCollection 2016 Apr.

20.

Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase.

Pastores GM, Shankar SP, Petakov M, Giraldo P, Rosenbaum H, Amato DJ, Szer J, Chertkoff R, Brill-Almon E, Zimran A.

Am J Hematol. 2016 Jul;91(7):661-5. doi: 10.1002/ajh.24399. Epub 2016 May 18.

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