-
1
-
-
0002248054
-
Lysinuric protein intolerance and other cationic aminoacidurias
-
Scriver C.S., Beaucert A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York
-
Simell O. Lysinuric protein intolerance and other cationic aminoacidurias. In: Scriver C.S., Beaucert A.L., Sly W.S., and Valle D. (Eds). The metabolic and molecular bases of inherited disease (2001), McGraw-Hill, New York 4933-4956
-
(2001)
The metabolic and molecular bases of inherited disease
, pp. 4933-4956
-
-
Simell, O.1
-
3
-
-
0033017645
-
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance
-
Borsani G., Bassi M.T., Sperandeo M.P., et al. SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet 21 (1999) 297-301
-
(1999)
Nat Genet
, vol.21
, pp. 297-301
-
-
Borsani, G.1
Bassi, M.T.2
Sperandeo, M.P.3
-
4
-
-
0342445416
-
+LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)
-
+LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI). Hum Mol Genet 9 (2000) 431-438
-
(2000)
Hum Mol Genet
, vol.9
, pp. 431-438
-
-
Mykkänen, J.1
Torrents, D.2
Pineda, M.3
-
5
-
-
0018839583
-
Basolateral membrane transport defect for lysine in lysinuric protein intolerance
-
Rajantie J., Simell O., and Perheentupa J. Basolateral membrane transport defect for lysine in lysinuric protein intolerance. Lancet 1 (1980) 1219-1221
-
(1980)
Lancet
, vol.1
, pp. 1219-1221
-
-
Rajantie, J.1
Simell, O.2
Perheentupa, J.3
-
6
-
-
0016593217
-
Lysinuric protein intolerance
-
Simell O., Perheentupa J., Rapola J., Visakorpi J.K., and Eskelin L.-E. Lysinuric protein intolerance. Am J Med 59 (1975) 229-240
-
(1975)
Am J Med
, vol.59
, pp. 229-240
-
-
Simell, O.1
Perheentupa, J.2
Rapola, J.3
Visakorpi, J.K.4
Eskelin, L.-E.5
-
7
-
-
0028285367
-
Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance: case reports and autopsy findings of 4 pediatric patients
-
Parto K., Kallajoki M., Aho H., and Simell O. Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance: case reports and autopsy findings of 4 pediatric patients. Hum Pathol 25 (1994) 400-407
-
(1994)
Hum Pathol
, vol.25
, pp. 400-407
-
-
Parto, K.1
Kallajoki, M.2
Aho, H.3
Simell, O.4
-
8
-
-
0018817654
-
Intestinal absorption in lysinuric protein intolerance: impaired for diamino acids, normal for citrulline
-
Rajantie J., Simell O., and Perheentupa J. Intestinal absorption in lysinuric protein intolerance: impaired for diamino acids, normal for citrulline. Gut 21 (1980) 519-524
-
(1980)
Gut
, vol.21
, pp. 519-524
-
-
Rajantie, J.1
Simell, O.2
Perheentupa, J.3
-
9
-
-
0019124313
-
Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine
-
Rajantie J., Simell O., Rapola J., and Perheentupa J. Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine. J Pediatr 97 (1980) 927-932
-
(1980)
J Pediatr
, vol.97
, pp. 927-932
-
-
Rajantie, J.1
Simell, O.2
Rapola, J.3
Perheentupa, J.4
-
10
-
-
0016716160
-
Hyperdibasicaminoaciduria, hyperammonemia and growth retardation: treatment with arginine, lysine, and citrulline
-
Awrich A.E., Stackhouse W.J., Cantrell J.E., Patterson J.H., and Rudman D. Hyperdibasicaminoaciduria, hyperammonemia and growth retardation: treatment with arginine, lysine, and citrulline. J Pediatr 87 (1975) 731-738
-
(1975)
J Pediatr
, vol.87
, pp. 731-738
-
-
Awrich, A.E.1
Stackhouse, W.J.2
Cantrell, J.E.3
Patterson, J.H.4
Rudman, D.5
-
11
-
-
0023155835
-
Inhibitory effect of intravenous lysine infusion on urea cycle metabolism
-
Kato T., Sano M., and Mizutani N. Inhibitory effect of intravenous lysine infusion on urea cycle metabolism. Eur J Pediatr 146 (1987) 56-58
-
(1987)
Eur J Pediatr
, vol.146
, pp. 56-58
-
-
Kato, T.1
Sano, M.2
Mizutani, N.3
-
12
-
-
0034108529
-
Effect of lysine infusion on urea cycle in lysinuric protein intolerance
-
Lukkarinen M., Näntö-Salonen K., Pulkki K., Mattila K., and Simell O. Effect of lysine infusion on urea cycle in lysinuric protein intolerance. Metabolism 49 (2000) 621-625
-
(2000)
Metabolism
, vol.49
, pp. 621-625
-
-
Lukkarinen, M.1
Näntö-Salonen, K.2
Pulkki, K.3
Mattila, K.4
Simell, O.5
-
13
-
-
0042591428
-
Oral supplementation corrects plasma lysine concentrations in lysinuric protein intolerance
-
Lukkarinen M., Näntö-Salonen K., Pulkki K., Aalto M., and Simell O. Oral supplementation corrects plasma lysine concentrations in lysinuric protein intolerance. Metabolism 52 (2003) 935-938
-
(2003)
Metabolism
, vol.52
, pp. 935-938
-
-
Lukkarinen, M.1
Näntö-Salonen, K.2
Pulkki, K.3
Aalto, M.4
Simell, O.5
-
14
-
-
0019351957
-
Orotic aciduria in lysinuric protein intolerance: dependence on the urea cycle intermediates
-
Rajantie J. Orotic aciduria in lysinuric protein intolerance: dependence on the urea cycle intermediates. Pediatr Res 15 (1981) 115-119
-
(1981)
Pediatr Res
, vol.15
, pp. 115-119
-
-
Rajantie, J.1
-
15
-
-
0022390541
-
Protein utilization in growth: effect of lysine deficiency on serum growth hormone, somatomedins, insulin, total thyroxine (T4) and triiodothyronine, free T4 index, and total corticosterone
-
Cree T.C., and Schalch D.S. Protein utilization in growth: effect of lysine deficiency on serum growth hormone, somatomedins, insulin, total thyroxine (T4) and triiodothyronine, free T4 index, and total corticosterone. Endocrinology 117 (1985) 667-673
-
(1985)
Endocrinology
, vol.117
, pp. 667-673
-
-
Cree, T.C.1
Schalch, D.S.2
-
16
-
-
0021995826
-
Lysinuric protein intolerance presenting as childhood osteoporosis: clinical and skeletal response to citrulline therapy
-
Carpenter T.O., Levy H.L., Holtrop M.E., Shih V.E., and Anast C.S. Lysinuric protein intolerance presenting as childhood osteoporosis: clinical and skeletal response to citrulline therapy. N Engl J Med 312 (1985) 290-294
-
(1985)
N Engl J Med
, vol.312
, pp. 290-294
-
-
Carpenter, T.O.1
Levy, H.L.2
Holtrop, M.E.3
Shih, V.E.4
Anast, C.S.5
-
17
-
-
0027511141
-
Skeletal manifestations of lysinuric protein intolerance: a follow-up study of 29 patients
-
Svedström E., Parto K., Marttinen M., Virtama P., and Simell O. Skeletal manifestations of lysinuric protein intolerance: a follow-up study of 29 patients. Skeletal Radiol 22 (1993) 11-16
-
(1993)
Skeletal Radiol
, vol.22
, pp. 11-16
-
-
Svedström, E.1
Parto, K.2
Marttinen, M.3
Virtama, P.4
Simell, O.5
-
18
-
-
0027319214
-
Osteoporosis in lysinuric protein intolerance
-
Parto K., Penttinen R., Paronen I., Pelliniemi L., and Simell O. Osteoporosis in lysinuric protein intolerance. J Inherit Metab Dis 16 (1993) 441-450
-
(1993)
J Inherit Metab Dis
, vol.16
, pp. 441-450
-
-
Parto, K.1
Penttinen, R.2
Paronen, I.3
Pelliniemi, L.4
Simell, O.5
-
20
-
-
0026949821
-
Dietary l-lysine and calcium metabolism in humans
-
Civitelli R., Villareal D.T., Agnusdei D., Nardi P., Avioli L.V., and Gennari C. Dietary l-lysine and calcium metabolism in humans. Nutrition 8 (1992) 400-405
-
(1992)
Nutrition
, vol.8
, pp. 400-405
-
-
Civitelli, R.1
Villareal, D.T.2
Agnusdei, D.3
Nardi, P.4
Avioli, L.V.5
Gennari, C.6
-
21
-
-
0033030431
-
B and T cell immunity in patients with lysinuric protein intolerance
-
Lukkarinen M., Parto K., Ruuskanen O., et al. B and T cell immunity in patients with lysinuric protein intolerance. Clin Exp Immunol 116 (1999) 430-434
-
(1999)
Clin Exp Immunol
, vol.116
, pp. 430-434
-
-
Lukkarinen, M.1
Parto, K.2
Ruuskanen, O.3
-
22
-
-
0031960344
-
Varicella and varicella immunity in patients with lysinuric protein intolerance
-
Lukkarinen M., Näntö-Salonen K., Ruuskanen O., et al. Varicella and varicella immunity in patients with lysinuric protein intolerance. J Inherit Metab Dis 21 (1998) 103-111
-
(1998)
J Inherit Metab Dis
, vol.21
, pp. 103-111
-
-
Lukkarinen, M.1
Näntö-Salonen, K.2
Ruuskanen, O.3
|