Fowler B - Search Results

1

No sensory neuropathy during pyridoxine treatment in homocystinuria.

Mpofu C, Alani SM, Whitehouse C, Fowler B, Wraith JE. Mpofu C, et al. Among authors: fowler b. Arch Dis Child. 1991 Sep;66(9):1081-2. doi: 10.1136/adc.66.9.1081. Arch Dis Child. 1991. PMID: 1929522 Free PMC article.

2

A patient with severe type of epimerase deficiency galactosaemia.

Sardharwalla IB, Wraith JE, Bridge C, Fowler B, Roberts SA. Sardharwalla IB, et al. Among authors: fowler b. J Inherit Metab Dis. 1988;11 Suppl 2:249-51. doi: 10.1007/BF01804249. J Inherit Metab Dis. 1988. PMID: 3141714 No abstract available.

3

Methionine and serine formation in control and mutant human cultured fibroblasts: evidence for methyl trapping and characterization of remethylation defects.

Fowler B, Whitehouse C, Wenzel F, Wraith JE. Fowler B, et al. Pediatr Res. 1997 Jan;41(1):145-51. doi: 10.1203/00006450-199701000-00023. Pediatr Res. 1997. PMID: 8979304

4

The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

Suormala T, Baumgartner MR, Coelho D, Zavadakova P, Kozich V, Koch HG, Berghaüser M, Wraith JE, Burlina A, Sewell A, Herwig J, Fowler B. Suormala T, et al. Among authors: fowler b. J Biol Chem. 2004 Oct 8;279(41):42742-9. doi: 10.1074/jbc.M407733200. Epub 2004 Aug 2. J Biol Chem. 2004. PMID: 15292234 Free article.

5

Detection of heterozygotes for homocystinuria. Study of sulphur-containing amino acids in plasma and urine after L-methionine loading.

Sardharwalla IB, Fowler B, Robins AJ, Komrower GM. Sardharwalla IB, et al. Among authors: fowler b. Arch Dis Child. 1974 Jul;49(7):553-9. doi: 10.1136/adc.49.7.553. Arch Dis Child. 1974. PMID: 4851308 Free PMC article.

6

Plasma levels of cystine in homocystinuria.

Sardharwalla IB, Fowler B. Sardharwalla IB, et al. Among authors: fowler b. Arch Dis Child. 1972 Feb;47(251):150-1. doi: 10.1136/adc.47.251.150-b. Arch Dis Child. 1972. PMID: 5018642 Free PMC article. No abstract available.

7

Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease).

Fowler B, Schutgens RB, Rosenblatt DS, Smit GP, Lindemans J. Fowler B, et al. J Inherit Metab Dis. 1997 Nov;20(6):731-41. doi: 10.1023/a:1005372730310. J Inherit Metab Dis. 1997. PMID: 9427140

8

Recent advances in the mechanism of pyridoxine-responsive disorders.

Fowler B. Fowler B. J Inherit Metab Dis. 1985;8 Suppl 1:76-83. doi: 10.1007/BF01800664. J Inherit Metab Dis. 1985. PMID: 3930845 Review.

9

The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria.

Moat SJ, Bao L, Fowler B, Bonham JR, Walter JH, Kraus JP. Moat SJ, et al. Among authors: fowler b. Hum Mutat. 2004 Feb;23(2):206. doi: 10.1002/humu.9214. Hum Mutat. 2004. PMID: 14722927

10

Cardiomyopathy in respiratory chain disorders.

Guenthard J, Wyler F, Fowler B, Baumgartner R. Guenthard J, et al. Among authors: fowler b. Arch Dis Child. 1995 Mar;72(3):223-6. doi: 10.1136/adc.72.3.223. Arch Dis Child. 1995. PMID: 7741568 Free PMC article. Review.

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