de Klerk JB - Search Results

1

A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes.

de Coo IF, Sistermans EA, de Wijs IJ, Catsman-Berrevoets C, Busch HF, Scholte HR, de Klerk JB, van Oost BA, Smeets HJ. de Coo IF, et al. Among authors: de wijs ij, de klerk jb. Neurology. 1998 Jan;50(1):293-5. doi: 10.1212/wnl.50.1.293. Neurology. 1998. PMID: 9443499

2

Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome.

van den Ouweland JM, de Klerk JB, van de Corput MP, Dirks RW, Raap AK, Scholte HR, Huijmans JG, Hart LM, Bruining GJ, Maassen JA. van den Ouweland JM, et al. Among authors: de klerk jb. Eur J Hum Genet. 2000 Mar;8(3):195-203. doi: 10.1038/sj.ejhg.5200444. Eur J Hum Genet. 2000. PMID: 10780785

3

Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype.

Scholte HR, Van Coster RN, de Jonge PC, Poorthuis BJ, Jeneson JA, Andresen BS, Gregersen N, de Klerk JB, Busch HF. Scholte HR, et al. Among authors: de jonge pc, de klerk jb. Neuromuscul Disord. 1999 Jul;9(5):313-9. doi: 10.1016/s0960-8966(99)00032-2. Neuromuscul Disord. 1999. PMID: 10407852

4

Functional hyperactivity of hepatic glutamate dehydrogenase as a cause of the hyperinsulinism/hyperammonemia syndrome: effect of treatment.

Huijmans JG, Duran M, de Klerk JB, Rovers MJ, Scholte HR. Huijmans JG, et al. Among authors: de klerk jb. Pediatrics. 2000 Sep;106(3):596-600. doi: 10.1542/peds.106.3.596. Pediatrics. 2000. PMID: 10969108 Free article.

5

Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial beta-oxidation defects.

Onkenhout W, Venizelos V, Scholte HR, De Klerk JB, Poorthuis BJ. Onkenhout W, et al. Among authors: de klerk jb. J Inherit Metab Dis. 2001 Jun;24(3):337-44. doi: 10.1023/a:1010592232317. J Inherit Metab Dis. 2001. PMID: 11486898

6

Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.

Vaz FM, Scholte HR, Ruiter J, Hussaarts-Odijk LM, Pereira RR, Schweitzer S, de Klerk JB, Waterham HR, Wanders RJ. Vaz FM, et al. Among authors: de klerk jb. Hum Genet. 1999 Jul-Aug;105(1-2):157-61. doi: 10.1007/s004399900105. Hum Genet. 1999. PMID: 10480371

7

Assessment of deficiencies of fatty acyl-CoA dehydrogenases in fibroblasts, muscle and liver.

Scholte HR, Ross JD, Blom W, Boonman AM, van Diggelen OP, Hall CL, Huijmans JG, Luyt-Houwen IE, Kleijer WJ, de Klerk JB, et al. Scholte HR, et al. Among authors: de klerk jb. J Inherit Metab Dis. 1992;15(3):347-52. doi: 10.1007/BF02435973. J Inherit Metab Dis. 1992. PMID: 1405467 No abstract available.

8

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.

van de Kamp JM, Pouwels PJ, Aarsen FK, ten Hoopen LW, Knol DL, de Klerk JB, de Coo IF, Huijmans JG, Jakobs C, van der Knaap MS, Salomons GS, Mancini GM. van de Kamp JM, et al. Among authors: de klerk jb. J Inherit Metab Dis. 2012 Jan;35(1):141-9. doi: 10.1007/s10545-011-9345-1. Epub 2011 May 10. J Inherit Metab Dis. 2012. PMID: 21556832 Free PMC article.

9

Systemic carnitine deficiency: benefit of oral carnitine supplements vs. persisting biochemical abnormalities.

Duran M, de Klerk JB, Wadman SK, Scholte HR, Beekman RP, Jennekens FG. Duran M, et al. Among authors: de klerk jb. Eur J Pediatr. 1984 Aug;142(3):224-8. doi: 10.1007/BF00442456. Eur J Pediatr. 1984. PMID: 6468448

10

Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner ER, deKlerk JB, Schroeder LD, Corydon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N. Andresen BS, et al. Am J Hum Genet. 1999 Feb;64(2):479-94. doi: 10.1086/302261. Am J Hum Genet. 1999. PMID: 9973285 Free PMC article.

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