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483 results

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Page 1
Stone forming risk factors in patients with type Ia glycogen storage disease.
Scales CD Jr, Chandrashekar AS, Robinson MR, Cantor DA, Sullivan J, Haleblian GE, Leitao VA, Sur RL, Borawski KM, Koeberl D, Kishnani PS, Preminger GM. Scales CD Jr, et al. J Urol. 2010 Mar;183(3):1022-5. doi: 10.1016/j.juro.2009.11.040. Epub 2010 Jan 21. J Urol. 2010. PMID: 20092831
IRF2BPL Is Associated with Neurological Phenotypes.
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, Martínez-Agosto JA, Herzog M, Chen AH, Dickson PI, Lin HJ, Vera MU, Salamon N, Graham JM Jr, Ortiz D, Infante E, Steyaert W, Dermaut B, Poppe B, Chung HL, Zuo Z, Lee PT, Kanca O, Xia F, Yang Y, Smith EC, Jasien J, Kansagra S, Spiridigliozzi G, El-Dairi M, Lark R, Riley K, Koeberl DD, Golden-Grant K; Program for Undiagnosed Diseases (UD-PrOZA); Undiagnosed Diseases Network; Yamamoto S, Wangler MF, Mirzaa G, Hemelsoet D, Lee B, Nelson SF, Goldstein DB, Bellen HJ, Pena LDM. Marcogliese PC, et al. Am J Hum Genet. 2018 Sep 6;103(3):456. doi: 10.1016/j.ajhg.2018.08.010. Am J Hum Genet. 2018. PMID: 30193138 Free PMC article. No abstract available.
Carrier testing in fragile X syndrome: when to tell and test.
McConkie-Rosell A, Spiridigliozzi GA, Sullivan JA, Dawson DV, Lachiewicz AM. McConkie-Rosell A, et al. Among authors: sullivan ja. Am J Med Genet. 2002 Jun 1;110(1):36-44. doi: 10.1002/ajmg.10396. Am J Med Genet. 2002. PMID: 12116269
Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.
Amalfitano A, Bengur AR, Morse RP, Majure JM, Case LE, Veerling DL, Mackey J, Kishnani P, Smith W, McVie-Wylie A, Sullivan JA, Hoganson GE, Phillips JA 3rd, Schaefer GB, Charrow J, Ware RE, Bossen EH, Chen YT. Amalfitano A, et al. Among authors: sullivan ja. Genet Med. 2001 Mar-Apr;3(2):132-8. Genet Med. 2001. PMID: 11286229 Free article. Clinical Trial.
483 results