Woo SL - Search Results

1

Identification of three novel PKU mutations among Chinese: evidence for recombination or recurrent mutation at the PAH locus.

Wang T, Okano Y, Eisensmith RC, Lo WH, Huang SZ, Zeng YT, Yuan LF, Liu SR, Woo SL. Wang T, et al. Among authors: woo sl. Genomics. 1992 May;13(1):230-1. doi: 10.1016/0888-7543(92)90229-l. Genomics. 1992. PMID: 1349576

2

Gene therapy for phenylketonuria.

Eisensmith RC, Woo SL. Eisensmith RC, et al. Among authors: woo sl. Acta Paediatr Suppl. 1994 Dec;407:124-9. doi: 10.1111/j.1651-2227.1994.tb13471.x. Acta Paediatr Suppl. 1994. PMID: 7766948 Review.

3

A simple, rapid, and highly informative PCR-based procedure for prenatal diagnosis and carrier screening of phenylketonuria.

Eisensmith RC, Goltsov AA, Woo SL. Eisensmith RC, et al. Among authors: woo sl. Prenat Diagn. 1994 Dec;14(12):1113-8. doi: 10.1002/pd.1970141204. Prenat Diagn. 1994. PMID: 7899279

4

Phenylketonuria in China: identification and characterization of three novel nucleotide substitutions in the human phenylalanine hydroxylase gene.

Li J, Eisensmith RC, Wang T, Lo WH, Huang SZ, Zeng YT, Yuan LF, Liu SR, Woo SL. Li J, et al. Among authors: woo sl. Hum Mutat. 1994;3(3):312-4. doi: 10.1002/humu.1380030323. Hum Mutat. 1994. PMID: 8019568 No abstract available.

5

Three polymorphisms but no disease-causing mutations in the proximal part of the promoter of the phenylalanine hydroxylase gene.

Svensson E, Wang Y, Eisensmith RC, Hagenfeldt L, Woo SL. Svensson E, et al. Among authors: woo sl. Eur J Hum Genet. 1993;1(4):306-13. doi: 10.1159/000472429. Eur J Hum Genet. 1993. PMID: 8081944

6

A single polymorphic STR system in the human phenylalanine hydroxylase gene permits rapid prenatal diagnosis and carrier screening for phenylketonuria.

Goltsov AA, Eisensmith RC, Naughton ER, Jin L, Chakraborty R, Woo SL. Goltsov AA, et al. Among authors: woo sl. Hum Mol Genet. 1993 May;2(5):577-81. doi: 10.1093/hmg/2.5.577. Hum Mol Genet. 1993. PMID: 8100164

7

Relation between genotype and phenotype in Swedish phenylketonuria and hyperphenylalaninemia patients.

Svensson E, von Döbeln U, Eisensmith RC, Hagenfeldt L, Woo SL. Svensson E, et al. Among authors: woo sl. Eur J Pediatr. 1993 Feb;152(2):132-9. doi: 10.1007/BF02072490. Eur J Pediatr. 1993. PMID: 8444221

8

Complete spectrum of PAH mutations in Tataria: presence of Slavic, Turkic and Scandinavian mutations.

Kuzmin AI, Eisensmith RC, Goltsov AA, Sergeeva NA, Schwartz EI, Woo SL. Kuzmin AI, et al. Among authors: woo sl. Eur J Hum Genet. 1995;3(4):246-55. doi: 10.1159/000472305. Eur J Hum Genet. 1995. PMID: 8528673

9

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.

Eisensmith RC, Woo SL. Eisensmith RC, et al. Among authors: woo sl. Hum Mutat. 1992;1(1):13-23. doi: 10.1002/humu.1380010104. Hum Mutat. 1992. PMID: 1301187 Review.

10

Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.

Svensson E, Eisensmith RC, Dworniczak B, von Döbeln U, Hagenfeldt L, Horst J, Woo SL. Svensson E, et al. Among authors: woo sl. Hum Mutat. 1992;1(2):129-37. doi: 10.1002/humu.1380010208. Hum Mutat. 1992. PMID: 1301200

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