M. Lukkarinen

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Citations119
Highly Influential Citations3
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Lysinuric protein intolerance (LPI) gene maps to the long arm of chromosome 14.
TLDR
The strongest allelic association obtained with marker TCRA, resulting in a P(excess) value of .98, suggests that the LPI gene locus lies in close proximity to this marker, probably within a distance of < 100 kb.
Oral supplementation corrects plasma lysine concentrations in lysinuric protein intolerance.
Human cationic amino acid transporter gene hCAT-2 is assigned to 8p22 but is not the causative gene in lysinuric protein intolerance
TLDR
By linkage analysis in Finnish LPI families, it is ruled out that hCAT-2B is involved in LPI disease, and the hC AT-2 gene is assigned to chromosome 8p22.
Varicella and varicella immunity in patients with lysinuric protein intolerance
TLDR
It is suggested that patients with lysinuric protein intolerance who have no varicella zoster antibodies should be treated with acyclovir if exposed tovaricella and should be (re)vaccinated against chickenpox.
Effect of lysine infusion on urea cycle in lysinuric protein intolerance.