Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance.

@article{GzelOzantrk2013MolecularAC,
  title={Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance.},
  author={Ayşeg{\"u}l G{\"u}zel-Ozant{\"u}rk and Rıza K{\"o}ksal Ozg{\"u}l and Ozlem Unal and Burcu {\"O}zt{\"u}rk Hismi and Halil İbrahim Aydın and Serap Hatice Kalkanoğlu Sivri and Ayşeg{\"u}l Tokatlı and Turgay Çoskun and Erol Aks{\"o}z and Ali Emre Dursun},
  journal={Gene},
  year={2013},
  volume={521 2},
  pages={
          293-5
        }
}
Lysinuric protein intolerance is an autosomal recessive metabolic disorder caused by defective transport of the cationic amino acids lysine, arginine and ornithine in the epithelial cells of the basolateral membrane in the small intestine and renal tubules. Mutations in the solute carrier family 7, member 7, SLC7A7, gene cause this multisystemic disease with a variety of clinical symptoms such as hepatosplenomegaly, osteoporosis, hypotonia, developmental delay, pulmonary insufficiency or end… CONTINUE READING

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References

Publications referenced by this paper.
Showing 1-10 of 22 references

[Lysinuric protein intolerance and other cationic aminoacidurias].

Ryoikibetsu shokogun shirizu • 1998
View 11 Excerpts
Highly Influenced

Lysin ı ric protein intolerance ( LPI ) : a multi organ disease by far more complex than a classic urea disorder

H. O. de Baulny, M. Schiff, C. Dionisi-Vici
Mol . Genet . Metab . • 2012
View 1 Excerpt

Lysinıric protein intolerance (LPI): a multi

H. O. de Baulny, M. Schiff, C. Dionisi-Vici
ance. Nat. Genet • 2012
View 1 Excerpt

Lysinuric protein intolerance: reviewing concepts on a multisystem disease.

American journal of medical genetics. Part C, Seminars in medical genetics • 2011
View 1 Excerpt

and extended mutation analysis of the SLC7A7 gene

L. M. Tanner, H. Niinikoski, K. Näntö-Salonen, O. Simell
Hum. Mutat • 2010
View 1 Excerpt

Lysinuric protein intolerance: one gene, many problems.

American journal of physiology. Cell physiology • 2007
View 1 Excerpt

A y (+) LAT-1mutant protein interfereswith y (+

G. Sebastio
2005