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Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy.
Chien YH, van der Ploeg A, Jones S, Byrne B, Vellodi A, Leslie N, Mengel E, Shankar SP, Tanpaiboon P, Stockton DW, Hennermann JB, Devecseri Z, Kempf J, Keutzer J, Kishnani P. Chien YH, et al. Among authors: kempf j. J Neuromuscul Dis. 2015;2(s1):S61-S62. J Neuromuscul Dis. 2015. PMID: 27858651 No abstract available.
The Pompe Registry: 10 Years of Data.
Kishnania P, Chien YH, Llerena J, Kempf J, Devecseri Z, van der Ploeg A. Kishnania P, et al. Among authors: kempf j. J Neuromuscul Dis. 2015;2(s1):S22-S23. J Neuromuscul Dis. 2015. PMID: 27858619 No abstract available.
Phenotypic characteristics of the p.Asn215Ser (p.N215S) GLA mutation in male and female patients with Fabry disease: A multicenter Fabry Registry study.
Germain DP, Brand E, Burlina A, Cecchi F, Garman SC, Kempf J, Laney DA, Linhart A, Maródi L, Nicholls K, Ortiz A, Pieruzzi F, Shankar SP, Waldek S, Wanner C, Jovanovic A. Germain DP, et al. Among authors: kempf j. Mol Genet Genomic Med. 2018 Apr 12;6(4):492-503. doi: 10.1002/mgg3.389. Online ahead of print. Mol Genet Genomic Med. 2018. PMID: 29649853 Free PMC article.
Boosting 1H and 13C NMR signals by orders of magnitude on a bench.
Bocquelet C, Rougier N, Le HN, Veyre L, Thieuleux C, Melzi R, Purea A, Banks D, Kempf JG, Stern Q, Vaneeckhaute E, Jannin S. Bocquelet C, et al. Among authors: kempf jg. Sci Adv. 2024 Dec 6;10(49):eadq3780. doi: 10.1126/sciadv.adq3780. Epub 2024 Dec 4. Sci Adv. 2024. PMID: 39630888 Free PMC article.
383 results