Christodoulou J - Search Results

1

Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis.

Tein I, Christodoulou J, Donner E, McInnes RR. Tein I, et al. Among authors: christodoulou j. J Pediatr. 1994 Jun;124(6):938-40. doi: 10.1016/s0022-3476(05)83187-7. J Pediatr. 1994. PMID: 8201482

2

"Reducing body"-like inclusions in skeletal muscle in childhood-onset acid maltase deficiency.

Jay V, Christodoulou J, Mercer-Connolly A, McInnes RR. Jay V, et al. Among authors: christodoulou j. Acta Neuropathol. 1992;85(1):111-5. doi: 10.1007/BF00304641. Acta Neuropathol. 1992. PMID: 1337420

3

A mutation causing DHPR deficiency results in a frameshift and a secondary splicing defect.

Smooker PM, Christodoulou J, McInnes RR, Cotton RG. Smooker PM, et al. Among authors: christodoulou j. J Med Genet. 1995 Mar;32(3):220-3. doi: 10.1136/jmg.32.3.220. J Med Genet. 1995. PMID: 7783174 Free PMC article.

4

Barth syndrome: clinical observations and genetic linkage studies.

Christodoulou J, McInnes RR, Jay V, Wilson G, Becker LE, Lehotay DC, Platt BA, Bridge PJ, Robinson BH, Clarke JT. Christodoulou J, et al. Am J Med Genet. 1994 Apr 15;50(3):255-64. doi: 10.1002/ajmg.1320500309. Am J Med Genet. 1994. PMID: 8042670

5

An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency.

Christodoulou J, Petrova-Benedict R, Robinson BH, Jay V, Clarke JT. Christodoulou J, et al. Eur J Pediatr. 1993 May;152(5):428-32. doi: 10.1007/BF01955904. Eur J Pediatr. 1993. PMID: 8319712

6

Atypical nonketotic hyperglycinemia confirmed by assay of the glycine cleavage system in lymphoblasts.

Christodoulou J, Kure S, Hayasaka K, Clarke JT. Christodoulou J, et al. J Pediatr. 1993 Jul;123(1):100-2. doi: 10.1016/s0022-3476(05)81550-1. J Pediatr. 1993. PMID: 8320601

7

Ornithine transcarbamylase deficiency presenting with strokelike episodes.

Christodoulou J, Qureshi IA, McInnes RR, Clarke JT. Christodoulou J, et al. J Pediatr. 1993 Mar;122(3):423-5. doi: 10.1016/s0022-3476(05)83432-8. J Pediatr. 1993. PMID: 8441099

8

Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin.

Ogle RF, Christodoulou J, Fagan E, Blok RB, Kirby DM, Seller KL, Dahl HH, Thorburn DR. Ogle RF, et al. Among authors: christodoulou j. J Pediatr. 1997 Jan;130(1):138-45. doi: 10.1016/s0022-3476(97)70323-8. J Pediatr. 1997. PMID: 9003864

9

Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles.

Walker DC, Christodoulou J, Craig HJ, Simard LR, Ploder L, Howell PL, McInnes RR. Walker DC, et al. Among authors: christodoulou j. J Biol Chem. 1997 Mar 7;272(10):6777-83. doi: 10.1074/jbc.272.10.6777. J Biol Chem. 1997. PMID: 9045711 Free article.

10

Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site.

Howell PL, Turner MA, Christodoulou J, Walker DC, Craig HJ, Simard LR, Ploder L, McInnes RR. Howell PL, et al. Among authors: christodoulou j. J Inherit Metab Dis. 1998;21 Suppl 1:72-85. doi: 10.1023/a:1005361724967. J Inherit Metab Dis. 1998. PMID: 9686346 Review.

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