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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 …
Nephropathy advancing to end-stage renal disease: a novel complication of lysinuric protein intolerance.
Tanner LM, Näntö-Salonen K, Niinikoski H, Jahnukainen T, Keskinen P, Saha H, Kananen K, Helanterä A, Metso M, Linnanvuo M, Huoponen K, Simell O. Tanner LM, et al. J Pediatr. 2007 Jun;150(6):631-4, 634.e1. doi: 10.1016/j.jpeds.2007.01.043. J Pediatr. 2007. PMID: 17517249
OBJECTIVE: To analyze systemically the prevalence of renal involvement in a cohort of Finnish patients with lysinuric protein intolerance (LPI) and to describe the course and outcome of end-stage renal disease in 4 patients. STUDY DESIGN: The clinical information in a coho …
OBJECTIVE: To analyze systemically the prevalence of renal involvement in a cohort of Finnish patients with lysinuric protein intolerance (L …
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 …
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 …
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 …
Neurological and endocrinological involvement in neonatal lupus erythematosus: a retrospective study at a tertiary hospital in Eastern China.
Sun W, Ding L, Li M, Fu C, Yang Z, Zhu X. Sun W, et al. Clin Rheumatol. 2023 Sep;42(9):2461-2468. doi: 10.1007/s10067-023-06622-8. Epub 2023 May 27. Clin Rheumatol. 2023. PMID: 37243803
Key Points A retrospective investigation of the clinical characteristics and prognosis of 39 NLE patients was performed, focusing on the clinical features of patients with neurological and endocrine system involvement to improve clinicians' understanding of this disease... …
Key Points A retrospective investigation of the clinical characteristics and prognosis of 39 NLE patients was performed, focusing on …
Postnatal outcome of children with antenatal colonic hyperechogenicity.
Fuchs F, Rodriguez A, Mousty E, Morin D, Roubertie A, Wells CF, Prodhomme O, Benoist JF, Dreux S, Faure JM, Willems M. Fuchs F, et al. Prenat Diagn. 2024 Jan;44(1):28-34. doi: 10.1002/pd.6475. Epub 2023 Dec 6. Prenat Diagn. 2024. PMID: 38054546
OBJECTIVE: To evaluate the postnatal outcome of children with antenatal colonic hyperechogenicity, currently considered as a sign of lysinuria-cystinuria, but which may also be a sign of other disorders with a more severe prognosis. METHOD: We carried out a French multi-ce …
OBJECTIVE: To evaluate the postnatal outcome of children with antenatal colonic hyperechogenicity, currently considered as a sign of lysinur …
30 results