Glycine loading test in acute intermittent porphyria patients and their relatives
✍ Scribed by D.Lynn Loriaux; Sylvia Deleña; Harold Brown
- Book ID
- 118946785
- Publisher
- Elsevier Science
- Year
- 1969
- Tongue
- English
- Weight
- 456 KB
- Volume
- 18
- Category
- Article
- ISSN
- 1532-8600
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📜 SIMILAR VOLUMES
Diminished activity of uroporphyrinogen I-synthetase in the liver and other tissues may be regarded to be the primary genetic deficiency of acute intermittent porphyria (AIP). Increased production and renal excretion of delta-aminolevulinic acid (ALA) und porphobilinogen (PBG) are secondary phenomen
## Abstract Acute intermittent porphyria (AIP) is an autosomal dominant disorder resulting from porphobilmogen deaminase (PBGD) deficiency. Seven unrelated Brazilian patients were investigated regarding PBGD gene mutations by polymerase chain reaction (PCR) and single strand conformation polymorphi