B Fowler
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Explore the profile of B Fowler including associated specialties, affiliations and a list of published articles.
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175
Citations
2454
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Recent Articles
11.
Shaheen N, Peery A, Hawes R, Rothstein R, Spechler S, Galanko J, et al.
Endoscopy
. 2010 Oct;
42(10):790-9.
PMID: 20886398
Background And Study Aims: The impact of the diagnosis and treatment of dysplastic Barrett's esophagus on quality of life (QoL) is poorly understood. This study assessed the influence of dysplastic...
12.
van Kuilenburg A, Meijer J, Gokcay G, Baykal T, Rubio-Gozalbo M, Mul A, et al.
Nucleosides Nucleotides Nucleic Acids
. 2010 Jun;
29(4-6):509-14.
PMID: 20544545
Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine degradation pathway. In a patient presenting with convulsions, psychomotor retardation and Reye like syndrome, strongly elevated levels of...
13.
14.
Urreizti R, Moya-Garcia A, Pino-Angeles A, Cozar M, Langkilde A, Fanhoe U, et al.
Clin Genet
. 2010 Mar;
78(5):441-8.
PMID: 20236116
Methylenetetrahydrofolate reductase (MTHFR) plays a major role in folate metabolism. Disturbed function of the enzyme results in hyperhomocysteinemia and causes severe vascular and neurological disorders and developmental delay. Five patients...
15.
Fowler B, Burlina A, Kozich V, Vianey-Saban C
J Inherit Metab Dis
. 2008 Nov;
31(6):680-9.
PMID: 19016343
External quality assurance (EQA) schemes are essential for improvement of accuracy, reliability and comparability of results of biochemical genetic tests. ERNDIM (European Research Network for evaluation and improvement of screening,...
16.
Fowler B, Leonard J, Baumgartner M
J Inherit Metab Dis
. 2008 Jun;
31(3):350-60.
PMID: 18563633
Several mutant genetic classes that cause isolated methylmalonic acidurias (MMAuria) are known based on biochemical, enzymatic and genetic complementation analysis. The mut(0) and mut(-) defects result from deficiency of MMCoA...
17.
Rummel T, Suormala T, Haberle J, Koch H, Berning C, Perrett D, et al.
J Inherit Metab Dis
. 2007 Apr;
30(3):401.
PMID: 17457696
Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in the regulation of plasma homocysteine levels. MTHFR deficiency, an autosomal recessive disorder, results in homocystinuria and hypomethioninaemia and presents with highly variable...
18.
Friebel D, Von Der Hagen M, Baumgartner E, Fowler B, Hahn G, Feyh P, et al.
Neuropediatrics
. 2006 Jun;
37(2):72-8.
PMID: 16773504
3-Methylcrotonylglycinuria is an inborn error of leucine catabolism with an autosomal recessive pattern of inheritance that results from a deficiency of 3-methylcrotonyl-CoA carboxylase (MCC). We report on a nine-year-old boy...
19.
Haecker F, Fasler-Kan E, Manasse C, Fowler B, Hertel R, von Schweinitz D
Eur J Pediatr Surg
. 2006 May;
16(2):94-9.
PMID: 16685614
Background: The aim of the study was to assess pro-inflammatory cytokine (tumor necrosis factor alpha [TNF-alpha], interleukin 6 [IL-6]) and anti-inflammatory cytokine (interleukin 10 [IL-10]) responses in children with peritonitis...
20.
Pinto L, Zen P, Rosa R, Paskulin G, Perla A, Barea L, et al.
J Inherit Metab Dis
. 2006 Apr;
29(1):205-6.
PMID: 16601894
We report a 3-year-old boy with isolated 3-methylcrotonyl-coenzyme A deficiency with unexpectedly severe presentation, seizures and history of cerebral ischae-mic episode.