Van Hove JL - Search Results

1

Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.

Andresen BS, Jensen TG, Bross P, Knudsen I, Winter V, Kølvraa S, Bolund L, Ding JH, Chen YT, Van Hove JL, et al. Andresen BS, et al. Among authors: van hove jl. Am J Hum Genet. 1994 Jun;54(6):975-88. Am J Hum Genet. 1994. PMID: 8198141 Free PMC article.

2

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.

Van Hove JL, Zhang W, Kahler SG, Roe CR, Chen YT, Terada N, Chace DH, Iafolla AK, Ding JH, Millington DS. Van Hove JL, et al. Am J Hum Genet. 1993 May;52(5):958-66. Am J Hum Genet. 1993. PMID: 8488845 Free PMC article.

3

Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.

Lei KJ, Chen YT, Chen H, Wong LJ, Liu JL, McConkie-Rosell A, Van Hove JL, Ou HC, Yeh NJ, Pan LY, et al. Lei KJ, et al. Among authors: van hove jl. Am J Hum Genet. 1995 Oct;57(4):766-71. Am J Hum Genet. 1995. PMID: 7573034 Free PMC article.

4

Renal involvement in type I glycogen storage disease.

Chen YT, Van Hove JL. Chen YT, et al. Among authors: van hove jl. Adv Nephrol Necker Hosp. 1995;24:357-65. Adv Nephrol Necker Hosp. 1995. PMID: 7572419 Review. No abstract available.

5

Expression of catalytically active human multifunctional glycogen-debranching enzyme and lysosomal acid alpha-glucosidase in insect cells.

Wu JY, Van Hove JL, Huang YS, Chen YT. Wu JY, et al. Among authors: van hove jl. Biochem Mol Biol Int. 1996 Jul;39(4):755-64. doi: 10.1080/15216549600201841. Biochem Mol Biol Int. 1996. PMID: 8843344

6

Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.

Shen JJ, Matern D, Millington DS, Hillman S, Feezor MD, Bennett MJ, Qumsiyeh M, Kahler SG, Chen YT, Van Hove JL. Shen JJ, et al. Among authors: van hove jl. J Inherit Metab Dis. 2000 Feb;23(1):27-44. doi: 10.1023/a:1005694712583. J Inherit Metab Dis. 2000. PMID: 10682306

7

Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature.

Van Hove JL, McConkie-Rosell A, Chen YT, Iafolla AK, Lanman JT Jr, Hennessy MD, Kahler SG. Van Hove JL, et al. Am J Med Genet. 1992 Sep 1;44(1):24-30. doi: 10.1002/ajmg.1320440107. Am J Med Genet. 1992. PMID: 1519645

8

High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease.

Van Hove JL, Yang HW, Wu JY, Brady RO, Chen YT. Van Hove JL, et al. Proc Natl Acad Sci U S A. 1996 Jan 9;93(1):65-70. doi: 10.1073/pnas.93.1.65. Proc Natl Acad Sci U S A. 1996. PMID: 8552676 Free PMC article.

9

Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly.

Friederich MW, Erdogan AJ, Coughlin CR 2nd, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, Riemer J. Friederich MW, et al. Hum Mol Genet. 2017 Feb 15;26(4):702-716. doi: 10.1093/hmg/ddw431. Hum Mol Genet. 2017. PMID: 28040730 Free PMC article.

10

The mutational spectrum of human malignant autosomal recessive osteopetrosis.

Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M, Babul-Hirji R, Baric I, Canham N, Chitayat D, Dupuis-Girod S, Ellis I, Etzioni A, Fasth A, Fisher A, Gerritsen B, Gulino V, Horwitz E, Klamroth V, Lanino E, Mirolo M, Musio A, Matthijs G, Nonomaya S, Notarangelo LD, Ochs HD, Superti Furga A, Valiaho J, van Hove JL, Vihinen M, Vujic D, Vezzoni P, Villa A. Sobacchi C, et al. Among authors: van hove jl. Hum Mol Genet. 2001 Aug 15;10(17):1767-73. doi: 10.1093/hmg/10.17.1767. Hum Mol Genet. 2001. PMID: 11532986

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