Acute metabolic crisis with extreme deficiency of glutathione in combination with decreased CSF levels of leukotriene C4 in a patient with glutathione synthetase deficiency
Author:
Affiliation:
1. ; Department of General Pediatrics; University Children's Hospital; Moorenstrasse 5 Düsseldorf D-40225 Germany
2. ; Department of General Pediatrics; University Children's Hospital; Düsseldorf
3. ; Children's Hospital; Nürnberg Germany
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000028843.48467.cb/fullpdf
Reference6 articles.
1. Erythrocyte glutathione synthase in 5-oxoprolinuria: kinetic studies of the mutant enzyme and detection of heterozygotes;Larsson;Clin Chim Acta,1976
2. Leukotriene C4-synthesis deficiency: a new inborn error of metabolism linked to a fatal developmental syndrome;Mayatepek;Lancet,1998
3. Impaired synthesis of lipoxygenase products in glutathione synthetase deficiency;Mayatepek;Pediatr Res,1994
4. Analysis of leukotrienes in cerebrospinal fluid of a reference population and patients with inborn errors of metabolism: further evidence for a pathognomonic profile in LTC4-synthesis deficiency;Mayatepek;Clin Chim Acta,2000
5. Eine Familie mit Pyroglutaminacidurie;Porath;Dtsch Med Wochenschr,1978
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