Original contributionPulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance: Case reports and autopsy findings of four pediatric patients
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Appendix: Normal weights and measurements
Cited by (61)
Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions
2017, Human PathologyCitation Excerpt :Amyloidosis was already reported in spleen and lymph node in LPI and is suspected by Tanner et al in the kidney [17,20]. Parto et al concluded to AL amyloidosis because of the positivity of deposits for Congo red despite potassium permanganate (KMnO4) treatment and the negativity for serum amyloid A immunofluorescence [20]. Our deposits showed similar Congo red positivity persistent after KMnO4 treatment and serum amyloid A negativity.
Imbalance of plasma amino acids, metabolites and lipids in patients with lysinuric protein intolerance (LPI)
2016, Metabolism: Clinical and ExperimentalDysfunction in macrophage toll-like receptor signaling caused by an inborn error of cationic amino acid transport
2015, Molecular ImmunologyCitation Excerpt :Recently, it has become evident that LPI is a multisystem disease impacting multiple organs and that the patients are at the risk of life-threatening complications (Sebastio et al., 2011; Ogier de Baulny et al., 2012). Over half of the Finnish LPI patients suffer from renal insufficiency (Tanner et al., 2007; Parto et al., 1994), and some patients develop pulmonary alveolar proteinosis (PAP) (Parto et al., 1993, 1994), which has caused the death of several Finnish LPI patients over the years. The mechanism behind PAP and severe dysfunction of the kidneys is still unknown.
Interstitial and Restrictive Pulmonary Disorders
2013, Emery and Rimoin's Principles and Practice of Medical GeneticsLysinuric protein intolerance (LPI): A multi organ disease by far more complex than a classic urea cycle disorder
2012, Molecular Genetics and MetabolismExploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI)
2012, Molecular Genetics and Metabolism