Kamphoven JH - Search Results

1

Two novel mutations in SLC6A8 cause creatine transporter defect and distinctive X-linked mental retardation in two unrelated Dutch families.

Mancini GM, Catsman-Berrevoets CE, de Coo IF, Aarsen FK, Kamphoven JH, Huijmans JG, Duran M, van der Knaap MS, Jakobs C, Salomons GS. Mancini GM, et al. Among authors: kamphoven jh. Am J Med Genet A. 2005 Jan 30;132A(3):288-95. doi: 10.1002/ajmg.a.30473. Am J Med Genet A. 2005. PMID: 15690373

2

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk.

Van den Hout JM, Kamphoven JH, Winkel LP, Arts WF, De Klerk JB, Loonen MC, Vulto AG, Cromme-Dijkhuis A, Weisglas-Kuperus N, Hop W, Van Hirtum H, Van Diggelen OP, Boer M, Kroos MA, Van Doorn PA, Van der Voort E, Sibbles B, Van Corven EJ, Brakenhoff JP, Van Hove J, Smeitink JA, de Jong G, Reuser AJ, Van der Ploeg AT. Van den Hout JM, et al. Among authors: kamphoven jh. Pediatrics. 2004 May;113(5):e448-57. doi: 10.1542/peds.113.5.e448. Pediatrics. 2004. PMID: 15121988

3

Cardiac remodeling and contractile function in acid alpha-glucosidase knockout mice.

Kamphoven JH, Stubenitsky R, Reuser AJ, Van Der Ploeg AT, Verdouw PD, Duncker DJ. Kamphoven JH, et al. Physiol Genomics. 2001 Apr 27;5(4):171-9. doi: 10.1152/physiolgenomics.2001.5.4.171. Physiol Genomics. 2001. PMID: 11328962

4

Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse.

Kamphoven JH, de Ruiter MM, Winkel LP, Van den Hout HM, Bijman J, De Zeeuw CI, Hoeve HL, Van Zanten BA, Van der Ploeg AT, Reuser AJ. Kamphoven JH, et al. Neurobiol Dis. 2004 Jun;16(1):14-20. doi: 10.1016/j.nbd.2003.12.018. Neurobiol Dis. 2004. PMID: 15207257

5

Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up.

Winkel LP, Van den Hout JM, Kamphoven JH, Disseldorp JA, Remmerswaal M, Arts WF, Loonen MC, Vulto AG, Van Doorn PA, De Jong G, Hop W, Smit GP, Shapira SK, Boer MA, van Diggelen OP, Reuser AJ, Van der Ploeg AT. Winkel LP, et al. Among authors: kamphoven jh. Ann Neurol. 2004 Apr;55(4):495-502. doi: 10.1002/ana.20019. Ann Neurol. 2004. PMID: 15048888

6

Impaired performance of skeletal muscle in alpha-glucosidase knockout mice.

Hesselink RP, Gorselink M, Schaart G, Wagenmakers AJ, Kamphoven J, Reuser AJ, Van Der Vusse GJ, Drost MR. Hesselink RP, et al. Muscle Nerve. 2002 Jun;25(6):873-83. doi: 10.1002/mus.10125. Muscle Nerve. 2002. PMID: 12115977

7

Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy.

Winkel LP, Kamphoven JH, van den Hout HJ, Severijnen LA, van Doorn PA, Reuser AJ, van der Ploeg AT. Winkel LP, et al. Among authors: kamphoven jh. Muscle Nerve. 2003 Jun;27(6):743-51. doi: 10.1002/mus.10381. Muscle Nerve. 2003. PMID: 12766987

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