Song XQ - Search Results

1

Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency.

Fukao T, Song XQ, Yamaguchi S, Orii T, Wanders RJ, Poll-The BT, Hashimoto T. Fukao T, et al. Among authors: song xq. Hum Mutat. 1995;5(1):94-6. doi: 10.1002/humu.1380050113. Hum Mutat. 1995. PMID: 7728155 No abstract available.

2

Mucopolysaccharidosis type II (Hunter disease): identification and characterization of eight point mutations in the iduronate-2-sulfatase gene in Japanese patients.

Sukegawa K, Tomatsu S, Fukao T, Iwata H, Song XQ, Yamada Y, Fukuda S, Isogai K, Orii T. Sukegawa K, et al. Among authors: song xq. Hum Mutat. 1995;6(2):136-43. doi: 10.1002/humu.1380060206. Hum Mutat. 1995. PMID: 7581397

3

Prenatal diagnosis in a family with mitochondrial acetoacetyl-coenzyme A thiolase deficiency with the use of the polymerase chain reaction followed by the heteroduplex detection method.

Fukao T, Wakazono A, Song XQ, Yamaguchi S, Zacharias R, Donlan MA, Orii T. Fukao T, et al. Among authors: song xq. Prenat Diagn. 1995 Apr;15(4):363-7. doi: 10.1002/pd.1970150411. Prenat Diagn. 1995. PMID: 7617578

4

Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patient.

Song XQ, Fukao T, Suzuki Y, Imamura A, Uchiyama A, Shimozawa N, Kondo N, Orii T. Song XQ, et al. Hum Mol Genet. 1995 Jun;4(6):1093-4. doi: 10.1093/hmg/4.6.1093. Hum Mol Genet. 1995. PMID: 7655465 No abstract available.

5

Molecular cloning and nucleotide sequence of complementary DNA for human hepatic cytosolic acetoacetyl-coenzyme A thiolase.

Song XQ, Fukao T, Yamaguchi S, Miyazawa S, Hashimoto T, Orii T. Song XQ, et al. Biochem Biophys Res Commun. 1994 May 30;201(1):478-85. doi: 10.1006/bbrc.1994.1726. Biochem Biophys Res Commun. 1994. PMID: 7911016

6

Immunotitration analysis of cytosolic acetoacetyl-coenzyme A thiolase activity in human fibroblasts.

Fukao T, Song XQ, Yamaguchi S, Hashimoto T, Orii T, Kondo N. Fukao T, et al. Among authors: song xq. Pediatr Res. 1996 Jun;39(6):1055-8. doi: 10.1203/00006450-199606000-00020. Pediatr Res. 1996. PMID: 8725269

7

Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency.

Fukao T, Song XQ, Yamaguchi S, Kondo N, Orii T, Matthieu JM, Bachmann C, Hashimoto T. Fukao T, et al. Among authors: song xq. Hum Mutat. 1997;9(3):277-9. doi: 10.1002/(SICI)1098-1004(1997)9:3<277::AID-HUMU11>3.0.CO;2-#. Hum Mutat. 1997. PMID: 9090533 No abstract available.

8

[Cytosolic acetoacetyl-CoA thiolase deficiency].

Song XQ, Fukao T. Song XQ, et al. Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):359-61. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9590069 Review. Japanese. No abstract available.

9

Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency.

Fukao T, Nakamura H, Song XQ, Nakamura K, Orii KE, Kohno Y, Kano M, Yamaguchi S, Hashimoto T, Orii T, Kondo N. Fukao T, et al. Among authors: song xq. Hum Mutat. 1998;12(4):245-54. doi: 10.1002/(SICI)1098-1004(1998)12:4<245::AID-HUMU5>3.0.CO;2-E. Hum Mutat. 1998. PMID: 9744475

10

Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping.

Watanabe H, Orii KE, Fukao T, Song XQ, Aoyama T, IJlst L, Ruiter J, Wanders RJ, Kondo N. Watanabe H, et al. Among authors: song xq. Hum Mutat. 2000;15(5):430-8. doi: 10.1002/(SICI)1098-1004(200005)15:5<430::AID-HUMU4>3.0.CO;2-1. Hum Mutat. 2000. PMID: 10790204

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