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Page 1
Overview of symptoms and treatment for lysinuric protein intolerance.
Noguchi A, Takahashi T. Noguchi A, et al. J Hum Genet. 2019 Sep;64(9):849-858. doi: 10.1038/s10038-019-0620-6. Epub 2019 Jun 18. J Hum Genet. 2019. PMID: 31213652 Review.
Furthermore, although therapeutic interventions can prevent hyperammonemic episodes to some extent, progression of pulmonary and renal complications cannot be prevented, thereby influencing prognosis. Such pathological conditions are currently being explored and further in …
Furthermore, although therapeutic interventions can prevent hyperammonemic episodes to some extent, progression of pulmonary and renal compl …
Clinical and genetic features of lysinuric protein intolerance in Japan.
Noguchi A, Nakamura K, Murayama K, Yamamoto S, Komatsu H, Kizu R, Takayanagi M, Okuyama T, Endo F, Takasago Y, Shoji Y, Takahashi T. Noguchi A, et al. Pediatr Int. 2016 Oct;58(10):979-983. doi: 10.1111/ped.12946. Epub 2016 Jun 8. Pediatr Int. 2016. PMID: 26865117
CONCLUSION: The clinical and genetic features of 35 Japanese patients with LPI were characterized, and no correlation between genotype and phenotype was observed. The importance of early diagnosis for better prognosis of LPI is emphasized....
CONCLUSION: The clinical and genetic features of 35 Japanese patients with LPI were characterized, and no correlation between genotype and p …
Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course.
Parenti G, Sebastio G, Strisciuglio P, Incerti B, Pecoraro C, Terracciano L, Andria G. Parenti G, et al. J Pediatr. 1995 Feb;126(2):246-51. doi: 10.1016/s0022-3476(95)70552-x. J Pediatr. 1995. PMID: 7844671 Review.
RESULTS: Some of the patients had unique clinical features, including bone marrow abnormalities featuring erythroblastophagocytosis (five patients) and clinical course and the outcome of the disease, have also been observed: respiratory involvement was present in five case …
RESULTS: Some of the patients had unique clinical features, including bone marrow abnormalities featuring erythroblastophagocytosis (five pa …
Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder.
Ogier de Baulny H, Schiff M, Dionisi-Vici C. Ogier de Baulny H, et al. Mol Genet Metab. 2012 May;106(1):12-7. doi: 10.1016/j.ymgme.2012.02.010. Epub 2012 Feb 17. Mol Genet Metab. 2012. PMID: 22402328 Review.
LPI has long been considered a relatively benign urea cycle disease, when appropriately treated with low-protein diet and l-citrulline supplementation. However, the severe clinical course of this disorder suggests that LPI should be regarded as a severe multisystem disease …
LPI has long been considered a relatively benign urea cycle disease, when appropriately treated with low-protein diet and l-citrulline suppl …
Lung involvement in children with lysinuric protein intolerance.
Valimahamed-Mitha S, Berteloot L, Ducoin H, Ottolenghi C, de Lonlay P, de Blic J. Valimahamed-Mitha S, et al. J Inherit Metab Dis. 2015 Mar;38(2):257-63. doi: 10.1007/s10545-014-9777-5. Epub 2014 Oct 22. J Inherit Metab Dis. 2015. PMID: 25335805
The objective of the study was to describe presentation and course of lung involvement in a cohort of ten children. PATIENTS AND METHODS: Retrospective review of patients followed at Necker-Enfants Malades University Hospital between 1980 and 2012 for a LPI. ...During the …
The objective of the study was to describe presentation and course of lung involvement in a cohort of ten children. PATIENTS AND METH …
Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.
Mauhin W, Habarou F, Gobin S, Servais A, Brassier A, Grisel C, Roda C, Pinto G, Moshous D, Ghalim F, Krug P, Deltour N, Pontoizeau C, Dubois S, Assoun M, Galmiche L, Bonnefont JP, Ottolenghi C, de Blic J, Arnoux JB, de Lonlay P. Mauhin W, et al. Orphanet J Rare Dis. 2017 Jan 5;12(1):3. doi: 10.1186/s13023-016-0550-8. Orphanet J Rare Dis. 2017. PMID: 28057010 Free PMC article.
Age-adjusted plasma lysine concentrations at diagnosis showed a trend toward increased values in patients with a severe disease course and premature death (Wilcoxon p = 0.08; logrank, p = 0.17). Age at diagnosis was a borderline predictor of overall survival (logran …
Age-adjusted plasma lysine concentrations at diagnosis showed a trend toward increased values in patients with a severe disease course …
Pulmonary manifestations in lysinuric protein intolerance.
Parto K, Svedström E, Majurin ML, Härkönen R, Simell O. Parto K, et al. Chest. 1993 Oct;104(4):1176-82. doi: 10.1378/chest.104.4.1176. Chest. 1993. PMID: 8404187
STUDY OBJECTIVES: To evaluate the pulmonary manifestations and the course of acute respiratory insufficiency associated with lysinuric protein intolerance (LPI). ...
STUDY OBJECTIVES: To evaluate the pulmonary manifestations and the course of acute respiratory insufficiency associated with lysinuri …
Glycoprotein-associated amino acid exchangers: broadening the range of transport specificity.
Verrey F, Meier C, Rossier G, Kühn LC. Verrey F, et al. Pflugers Arch. 2000 Aug;440(4):503-12. doi: 10.1007/s004240000274. Pflugers Arch. 2000. PMID: 10958334 Review.
Members of the newly discovered glycoprotein-associated amino acid transporter family (gpaAT-family) share a similar primary structure with >40% identity, a predicted 12-transmembrane segment topology and the requirement for association with a glycoprotein (heavy chain) …
Members of the newly discovered glycoprotein-associated amino acid transporter family (gpaAT-family) share a similar primary structure with …
30 results