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Anesthesia in a child with homozygous porphobilinogen deaminase deficiency: a severe form of acute intermittent porphyria

โœ Scribed by LORCAN SHEPPARD; TERESA DORMAN

Book ID
109029512
Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
50 KB
Volume
15
Category
Article
ISSN
1155-5645

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๐Ÿ“œ SIMILAR VOLUMES

Homozygous acute intermittent porphyria:
Homozygous acute intermittent porphyria: compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogen deaminase gene
โœ D. H. Llewellyn; S. J. Smyth; G. H. Elder; A. C. Hutchesson; J. M. Rattenbury; M ๐Ÿ“‚ Article ๐Ÿ“… 1992 ๐Ÿ› Springer ๐ŸŒ English โš– 215 KB

A sister and brother with severe porphobilinogen (PBG) deaminase deficiency are described. Each of their parents carries a different mutation for acute intermittent porphyria and the children are homozygous for the PBG-deaminase deficiency that causes this disorder. Both are compound heterozygotes f

Detection of a high mutation frequency i
Detection of a high mutation frequency in exon 12 of the porphobilinogen deaminase gene in patients with acute intermittent porphyria
โœ C. S. Mgone; W. G. Lanyon; M. R. Moore; G. V. Louie; J. M. Connor ๐Ÿ“‚ Article ๐Ÿ“… 1993 ๐Ÿ› Springer ๐ŸŒ English โš– 688 KB

Direct cDNA sequencing was performed on asymmetrically amplified transcripts from the porphobilinogen deaminase (PBG-D) gene of thirteen unrelated individuals with acute intermittent porphyria. Four different mutations and a polymorphic site were detected in exon 12 of the gene, four being the resul