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Volumn , Issue , 2006, Pages 321-328

Transport defects of amino acids at the cell membrane: Cystinuria, lysinuric protein intolerance and hartnup disorder

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EID: 34249781779     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-540-28785-8_26     Document Type: Chapter
Times cited : (3)

References (63)
  • 1
    • 0035665602 scopus 로고    scopus 로고
    • Heteromeric amino acid transporters: Biochemistry, genetics, and physiology
    • Chillaron J, Roca R, Valencia A et al (2001) Heteromeric amino acid transporters: biochemistry, genetics, and physiology. Am J Physiol Renal Physiol 281:F995-F1018
    • (2001) Am J Physiol Renal Physiol , vol.281
    • Chillaron, J.1    Roca, R.2    Valencia, A.3
  • 2
    • 0030853569 scopus 로고    scopus 로고
    • Studies on renal function in patients with cystinuria
    • Lindell A, Denneberg T, Granerus G (1997) Studies on renal function in patients with cystinuria. Nephron 77:76-85
    • (1997) Nephron , vol.77 , pp. 76-85
    • Lindell, A.1    Denneberg, T.2    Granerus, G.3
  • 3
    • 1842739322 scopus 로고    scopus 로고
    • Stone clustering of patients with cystine urinary stone formation
    • Purohit RS, Stoller ML (2004) Stone clustering of patients with cystine urinary stone formation. Urology 63:630-635
    • (2004) Urology , vol.63 , pp. 630-635
    • Purohit, R.S.1    Stoller, M.L.2
  • 4
    • 0034822167 scopus 로고    scopus 로고
    • A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease
    • Parvari R, Brodyansky I, Elpeleg O et al (2001) A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease. Am J Hum Genet 69:869-875
    • (2001) Am J Hum Genet , vol.69 , pp. 869-875
    • Parvari, R.1    Brodyansky, I.2    Elpeleg, O.3
  • 5
    • 29244476037 scopus 로고    scopus 로고
    • Deletion of PREPL; a gene encoding a putative serine oligopeptidase, in patients with hypotoniacystinuria syndrome
    • Jaeken J, Martens K, François I et al (2006) Deletion of PREPL; a gene encoding a putative serine oligopeptidase, in patients with hypotoniacystinuria syndrome. Am J Hum Genet 78:38-51
    • (2006) Am J Hum Genet , vol.78 , pp. 38-51
    • Jaeken, J.1    Martens, K.2    François, I.3
  • 6
    • 0028237714 scopus 로고
    • Cystinuria caused by mutations in RBAT, a gene involved in the transport of cystine
    • Calonge MJ, Gasparini P, Chillaron J et al (1994) Cystinuria caused by mutations in RBAT, a gene involved in the transport of cystine. Nat Genet 6:420-425
    • (1994) Nat Genet , vol.6 , pp. 420-425
    • Calonge, M.J.1    Gasparini, P.2    Chillaron, J.3
  • 7
    • 0032821201 scopus 로고    scopus 로고
    • Non-type I cystiuria caused by mutations in SLCA9, encoding a subunit (b0, +) AT of rBAT. International Cystinuria Consortium
    • Feliubadalo L, Font M, Purroy J et al (1999) Non-type I cystiuria caused by mutations in SLCA9, encoding a subunit (b0, +) AT of rBAT. International Cystinuria Consortium. Nat Genet 23:52-57
    • (1999) Nat Genet , vol.23 , pp. 52-57
    • Feliubadalo, L.1    Font, M.2    Purroy, J.3
  • 8
    • 0036406524 scopus 로고    scopus 로고
    • SLC7A mutations in all three cystinuria subtypes
    • Leclerc D, Boutros M, Suh D et al (2002) SLC7A mutations in all three cystinuria subtypes. Kidney Int 62:1550-1559
    • (2002) Kidney Int , vol.62 , pp. 1550-1559
    • Leclerc, D.1    Boutros, M.2    Suh, D.3
  • 9
    • 18544381349 scopus 로고    scopus 로고
    • Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: A need for a new classification
    • Dello-Strogolo L, Pras E, Pontesilli C et al (2002) Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification. J Am Soc Nephrol 13:2547-2553
    • (2002) J Am Soc Nephrol , vol.13 , pp. 2547-2553
    • Dello-Strogolo, L.1    Pras, E.2    Pontesilli, C.3
  • 10
    • 10744223815 scopus 로고    scopus 로고
    • Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria
    • Schmidt C, Vester U, Wagner CA et al (2003) Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria. Kidney Int 64:1564-1573
    • (2003) Kidney Int , vol.64 , pp. 1564-1573
    • Schmidt, C.1    Vester, U.2    Wagner, C.A.3
  • 11
    • 0034007656 scopus 로고    scopus 로고
    • Medical treatment of cystinuria: Critical reappraisal of long-term results
    • Barbey F, Joly D, Rieu P et al (2000) Medical treatment of cystinuria: critical reappraisal of long-term results. Clin Urology 163:1419-1423
    • (2000) Clin Urology , vol.163 , pp. 1419-1423
    • Barbey, F.1    Joly, D.2    Rieu, P.3
  • 12
    • 0035154023 scopus 로고    scopus 로고
    • A comparison of the effects of potassium citrate and sodium bicarbonate in the alkalinization of urine in homozygous cystinuria
    • Fjellstedt E, Denneberg T, Jeppsson JO, Tiselius HG (2001) A comparison of the effects of potassium citrate and sodium bicarbonate in the alkalinization of urine in homozygous cystinuria. Urol Res 29:295-302
    • (2001) Urol Res , vol.29 , pp. 295-302
    • Fjellstedt, E.1    Denneberg, T.2    Jeppsson, J.O.3    Tiselius, H.G.4
  • 13
    • 0034007656 scopus 로고    scopus 로고
    • Medical treatment of cystinuria: Critical reappraisal of long-term results
    • Barbey F, Joly D, Rieu P et al (2000) Medical treatment of cystinuria: critical reappraisal of long-term results. Clin Urology 163:1419-1423
    • (2000) Clin Urology , vol.163 , pp. 1419-1423
    • Barbey, F.1    Joly, D.2    Rieu, P.3
  • 14
    • 0032158877 scopus 로고    scopus 로고
    • Prophylaxis of cystine calculi by low dose of alpha mercaptopropionylglycine administered every other day
    • Berio A, Piazzi A (1998) Prophylaxis of cystine calculi by low dose of alpha mercaptopropionylglycine administered every other day. Panminerva Med 40:244-246
    • (1998) Panminerva Med , vol.40 , pp. 244-246
    • Berio, A.1    Piazzi, A.2
  • 15
    • 0029853391 scopus 로고    scopus 로고
    • Medical treatment of cystinuria: Results of contemporary clinical practice
    • Chow GK, Streem SB (1996) Medical treatment of cystinuria: results of contemporary clinical practice. J Urol 156:1576-1578
    • (1996) J Urol , vol.156 , pp. 1576-1578
    • Chow, G.K.1    Streem, S.B.2
  • 16
    • 0043065356 scopus 로고    scopus 로고
    • Cystine chrystal volume determination: A useful tool in the management of cystinuric patients
    • Daudon M, Cohen-Solail F, Barbey F et al (2003) Cystine chrystal volume determination: a useful tool in the management of cystinuric patients. Urol Res 31:207-211
    • (2003) Urol Res , vol.31 , pp. 207-211
    • Daudon, M.1    Cohen-Solail, F.2    Barbey, F.3
  • 17
    • 0034940534 scopus 로고    scopus 로고
    • Solid phase assay of urine cystine supersaturation in the presence of cystine binding drugs
    • Coe FL, Clark C, Parks JH, Asplin JR (2001) Solid phase assay of urine cystine supersaturation in the presence of cystine binding drugs. J Urol 166:688-693
    • (2001) J Urol , vol.166 , pp. 688-693
    • Coe, F.L.1    Clark, C.2    Parks, J.H.3    Asplin, J.R.4
  • 18
    • 0031806916 scopus 로고    scopus 로고
    • Cystinuria subtype and the risk of nephrolithiasis
    • Goodyer P, Saadi I, Ong P et al (1998) Cystinuria subtype and the risk of nephrolithiasis. Kidney Int 54:56-61
    • (1998) Kidney Int , vol.54 , pp. 56-61
    • Goodyer, P.1    Saadi, I.2    Ong, P.3
  • 19
    • 50549192830 scopus 로고
    • Protein intolerance with deficient transport of basic amino acids: Another inborn error of metabolism
    • Perheentupa J, Visakorpi JK (1965) Protein intolerance with deficient transport of basic amino acids: another inborn error of metabolism. Lancet 2:813-816
    • (1965) Lancet , vol.2 , pp. 813-816
    • Perheentupa, J.1    Visakorpi, J.K.2
  • 21
    • 0021995826 scopus 로고
    • Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy
    • Carpenter TO, Levy HL, Holtrop ME et al (1985) Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy. N Engl J Med 312:290-294
    • (1985) N Engl J Med , vol.312 , pp. 290-294
    • Carpenter, T.O.1    Levy, H.L.2    Holtrop, M.E.3
  • 22
    • 0027511141 scopus 로고
    • Skeletal manifestations of lysinuric protein intolerance. A follow-up study of 29 patients
    • Svedström E, Parto K, Marttinen M et al (1993) Skeletal manifestations of lysinuric protein intolerance. A follow-up study of 29 patients. Skeletal Radiol 22:11-16
    • (1993) Skeletal Radiol , vol.22 , pp. 11-16
    • Svedström, E.1    Parto, K.2    Marttinen, M.3
  • 23
    • 0027358965 scopus 로고
    • Pulmonary manifestations in lysinuric protein intolerance
    • Parto K, Svedström E, Majurin M-L et al (1993) Pulmonary manifestations in lysinuric protein intolerance. Chest 104:1176-1182
    • (1993) Chest , vol.104 , pp. 1176-1182
    • Parto, K.1    Svedström, E.2    Majurin, M.-L.3
  • 24
    • 0019167524 scopus 로고
    • Changes in peripheral blood cells and serum ferritin in lysinuric protein intolerance
    • Rajantie J, Simell O, Perheentupa J, Siimes MA (1980) Changes in peripheral blood cells and serum ferritin in lysinuric protein intolerance. Acta Paediatr Scand 69:741-745
    • (1980) Acta Paediatr Scand , vol.69 , pp. 741-745
    • Rajantie, J.1    Simell, O.2    Perheentupa, J.3    Siimes, M.A.4
  • 25
    • 0028788097 scopus 로고
    • Immunological abnormality in patients with lysinuric protein intolerance
    • Yoshida Y, Machigashira K, Suehara M et al (1995) Immunological abnormality in patients with lysinuric protein intolerance. J Neurol Sci 134:178-182
    • (1995) J Neurol Sci , vol.134 , pp. 178-182
    • Yoshida, Y.1    Machigashira, K.2    Suehara, M.3
  • 26
    • 0033030431 scopus 로고    scopus 로고
    • B and T cell immunity in patients with lysinuric protein intolerance
    • Lukkarinen M, Parto K, Ruuskanen O et al (1999) B and T cell immunity in patients with lysinuric protein intolerance. Clin Exp Immunol 116:430-434
    • (1999) Clin Exp Immunol , vol.116 , pp. 430-434
    • Lukkarinen, M.1    Parto, K.2    Ruuskanen, O.3
  • 27
    • 0031960344 scopus 로고    scopus 로고
    • Varicella and varicella immunity in patients with lysinuric protein intolerance
    • Lukkarinen M, Näntö-Salonen K, Ruuskanen O et al (1998) Varicella and varicella immunity in patients with lysinuric protein intolerance. J Inherit Metab Dis 21:103-111
    • (1998) J Inherit Metab Dis , vol.21 , pp. 103-111
    • Lukkarinen, M.1    Näntö-Salonen, K.2    Ruuskanen, O.3
  • 28
    • 0031959618 scopus 로고    scopus 로고
    • Intravenous immunoglobulin in lysinuric protein intolerance
    • Dionisi-Vici C, De Felice L, el Hachem M et al (1998) Intravenous immunoglobulin in lysinuric protein intolerance. J Inherit Metab Dis 21:95-102
    • (1998) J Inherit Metab Dis , vol.21 , pp. 95-102
    • Dionisi-Vici, C.1    De Felice, L.2    El Hachem, M.3
  • 29
    • 0031887605 scopus 로고    scopus 로고
    • Lysinuric protein intolerance and systemic lupus erythematosus
    • Kamoda T, Nagai Y, Shigeta M et al (1998) Lysinuric protein intolerance and systemic lupus erythematosus. Eur J Pediatr 157:130-131
    • (1998) Eur J Pediatr , vol.157 , pp. 130-131
    • Kamoda, T.1    Nagai, Y.2    Shigeta, M.3
  • 30
    • 0034934327 scopus 로고    scopus 로고
    • Lysinuric protein intolerance in siblings: Complication of systemic lupus erythematosus in the elder sister
    • Aoki M, Fukao T, Fujita Y et al (2001) Lysinuric protein intolerance in siblings: complication of systemic lupus erythematosus in the elder sister. Eur J Pediatr 160:522-523
    • (2001) Eur J Pediatr , vol.160 , pp. 522-523
    • Aoki, M.1    Fukao, T.2    Fujita, Y.3
  • 31
    • 0027249435 scopus 로고
    • Lysinuric protein intolerance with chronic interstitial lung disease and pulmonary cholesterol granulomas at onset
    • Kerem E, Elpelg ON, Shalev RS et al (1993) Lysinuric protein intolerance with chronic interstitial lung disease and pulmonary cholesterol granulomas at onset. J Pediatr 123:275-278
    • (1993) J Pediatr , vol.123 , pp. 275-278
    • Kerem, E.1    Elpelg, O.N.2    Shalev, R.S.3
  • 32
    • 0027180730 scopus 로고
    • Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance
    • DiRocco M, Garibotto G, Rossi GA et al (1993) Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance. Eur J Pediatr 152:437-440
    • (1993) Eur J Pediatr , vol.152 , pp. 437-440
    • DiRocco, M.1    Garibotto, G.2    Rossi, G.A.3
  • 33
    • 0028285367 scopus 로고
    • Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance: Case reports and autopsy findings of four pediatric patients
    • Parto K, Kallajoki M, Aho H, Simell O (1994) Pulmonary alveolar proteinosis and glomerulonephritis in lysinuric protein intolerance: case reports and autopsy findings of four pediatric patients. Hum Pathol 25:400-407
    • (1994) Hum Pathol , vol.25 , pp. 400-407
    • Parto, K.1    Kallajoki, M.2    Aho, H.3    Simell, O.4
  • 34
    • 9044249327 scopus 로고    scopus 로고
    • Early detection of lung involvement in lysinuric protein intolerance: Role of high-resolution computed tomography and radioisotopic methods
    • Santamaria F, Parenti G, Guidi G et al (1996) Early detection of lung involvement in lysinuric protein intolerance: role of high-resolution computed tomography and radioisotopic methods. Am J Respir Crit Care Med 153:731-735
    • (1996) Am J Respir Crit Care Med , vol.153 , pp. 731-735
    • Santamaria, F.1    Parenti, G.2    Guidi, G.3
  • 35
    • 0033057615 scopus 로고    scopus 로고
    • Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance
    • Duval M, Fenneteau O, Doireau V et al (1999) Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance. J Pediatr 134:236-239
    • (1999) J Pediatr , vol.134 , pp. 236-239
    • Duval, M.1    Fenneteau, O.2    Doireau, V.3
  • 36
    • 0028876643 scopus 로고
    • Lysinuric protein intolerance characterised by bone marrow abnormalities and severe clinical course
    • Parenti G, Sebastio G, Strisciuglio P et al (1995) Lysinuric protein intolerance characterised by bone marrow abnormalities and severe clinical course. J Pediatr 126:246-251
    • (1995) J Pediatr , vol.126 , pp. 246-251
    • Parenti, G.1    Sebastio, G.2    Strisciuglio, P.3
  • 37
    • 3342976429 scopus 로고    scopus 로고
    • Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance
    • Santamaria F, Brancaccio G, Parenti G et al (2004) Recurrent fatal pulmonary alveolar proteinosis after heart-lung transplantation in a child with lysinuric protein intolerance. J Pediatr 145:268-272
    • (2004) J Pediatr , vol.145 , pp. 268-272
    • Santamaria, F.1    Brancaccio, G.2    Parenti, G.3
  • 38
    • 0018839583 scopus 로고
    • Basolateral membrane transport defect for lysine in lysinuric protein intolerance
    • Rajantie J, Simell O, Perheentupa J (1980) Basolateral membrane transport defect for lysine in lysinuric protein intolerance. Lancet 1:1219-1221
    • (1980) Lancet , vol.1 , pp. 1219-1221
    • Rajantie, J.1    Simell, O.2    Perheentupa, J.3
  • 39
    • 0019464563 scopus 로고
    • Lysinuric protein intolerance. Basolateral transport defect in renal tubuli
    • Rajantie J, Simell O, Perheentupa J (1981) Lysinuric protein intolerance. Basolateral transport defect in renal tubuli. J Clin Invest 67:1078-1082
    • (1981) J Clin Invest , vol.67 , pp. 1078-1082
    • Rajantie, J.1    Simell, O.2    Perheentupa, J.3
  • 40
    • 0023444749 scopus 로고
    • Lysinuric protein intolerance mutation is expressed in the plasma membrane of cultured skin fibroblasts
    • Smith DW, Scriver CR, Tenenhouse HS, Simell O (1987) Lysinuric protein intolerance mutation is expressed in the plasma membrane of cultured skin fibroblasts. Proc Natl Acad Sci USA 84:7711-7715
    • (1987) Proc Natl Acad Sci USA , vol.84 , pp. 7711-7715
    • Smith, D.W.1    Scriver, C.R.2    Tenenhouse, H.S.3    Simell, O.4
  • 41
    • 0033637696 scopus 로고    scopus 로고
    • Arginine transport through system y+L in cultured human fibroblasts: Normal phenotype of cells from LPI subjects
    • Dall'Asta V, Bussolati O, Sala R et al (2000) Arginine transport through system y+L in cultured human fibroblasts: normal phenotype of cells from LPI subjects. Am J Physiol Cell Physiol 279:C1829-1837
    • (2000) Am J Physiol Cell Physiol , vol.279
    • Dall'Asta, V.1    Bussolati, O.2    Sala, R.3
  • 42
    • 0024206537 scopus 로고
    • Lysinuric protein intolerance mutation is not expressed in the plasma membrane of erythrocytes
    • Smith DW, Scriver CR, Simell O (1988) Lysinuric protein intolerance mutation is not expressed in the plasma membrane of erythrocytes. Hum Genet 80:395-396
    • (1988) Hum Genet , vol.80 , pp. 395-396
    • Smith, D.W.1    Scriver, C.R.2    Simell, O.3
  • 43
    • 0034051980 scopus 로고    scopus 로고
    • Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance
    • Boyd CA, Deves R, Laynes R, Kudo Y et al (2000) Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance. Pflugers Arch 459:513-516
    • (2000) Pflugers Arch , vol.459 , pp. 513-516
    • Boyd, C.A.1    Deves, R.2    Laynes, R.3    Kudo, Y.4
  • 44
    • 0020663241 scopus 로고
    • «Basolateral» and mitochondrial membrane transport defect in the hepatocytes in lysinuric protein intolerance
    • Rajantie J, Simell O, Perheentupa J (1983) «Basolateral» and mitochondrial membrane transport defect in the hepatocytes in lysinuric protein intolerance. Acta Paediatr Scand 72:65-70
    • (1983) Acta Paediatr Scand , vol.72 , pp. 65-70
    • Rajantie, J.1    Simell, O.2    Perheentupa, J.3
  • 45
    • 0032845362 scopus 로고    scopus 로고
    • Reduced nitric acid production by L-arginine deficiency in lysinuric protein intolerance exacerbates intravascular coagulation
    • Kayanoki Y, Kawata S, Kiso S et al (1999) Reduced nitric acid production by L-arginine deficiency in lysinuric protein intolerance exacerbates intravascular coagulation. Metabolism 48:1136-1140
    • (1999) Metabolism , vol.48 , pp. 1136-1140
    • Kayanoki, Y.1    Kawata, S.2    Kiso, S.3
  • 46
    • 0034800081 scopus 로고    scopus 로고
    • Vascular endothelial dysfunction resulting from L-arginine deficiency in a patient with lysinuric protein intolerance
    • Kamada Y, Nagaretani H, Tamura S et al (2001) Vascular endothelial dysfunction resulting from L-arginine deficiency in a patient with lysinuric protein intolerance. J Clin Invest 108:717-724
    • (2001) J Clin Invest , vol.108 , pp. 717-724
    • Kamada, Y.1    Nagaretani, H.2    Tamura, S.3
  • 48
    • 1642506328 scopus 로고    scopus 로고
    • Lysinuric protein intolerance: Mechanisms of pathophysiology
    • Palacin M, Bertran J, Chillaron J et al (2004) Lysinuric protein intolerance: mechanisms of pathophysiology. Mol Genet Metab 81:27-37
    • (2004) Mol Genet Metab , vol.81 , pp. 27-37
    • Palacin, M.1    Bertran, J.2    Chillaron, J.3
  • 49
    • 0344699322 scopus 로고    scopus 로고
    • Identification of SLC7A7, encoding y+ LAT-1, as the lysinuric protein intolerance gene
    • Torrents D, Mykkänen J, Pineda M et al (1999) Identification of SLC7A7, encoding y+ LAT-1, as the lysinuric protein intolerance gene. Nat Genet 21:293-296
    • (1999) Nat Genet , vol.21 , pp. 293-296
    • Torrents, D.1    Mykkänen, J.2    Pineda, M.3
  • 50
    • 0033017645 scopus 로고    scopus 로고
    • SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance
    • Borsani G, Bassi MT, Sperandeo MP et al (1999) SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet 21:297-301
    • (1999) Nat Genet , vol.21 , pp. 297-301
    • Borsani, G.1    Bassi, M.T.2    Sperandeo, M.P.3
  • 51
    • 0033909657 scopus 로고    scopus 로고
    • Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance
    • Sperandeo MP, Bassi MT, Riboni et al (2000) Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. Am J Hum Genet 66:92-99
    • (2000) Am J Hum Genet , vol.66 , pp. 92-99
    • Sperandeo, M.P.1    Bassi, M.T.2    Riboni3
  • 52
    • 0019124313 scopus 로고
    • Lysinuric protein intolerance: A two-year trial of dietary supplementation therapy with citrulline and lysine
    • Rajantie J, Simell O, Rapola J, Perheentupa J (1980) Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine. J Pediatr 97:927-932
    • (1980) J Pediatr , vol.97 , pp. 927-932
    • Rajantie, J.1    Simell, O.2    Rapola, J.3    Perheentupa, J.4
  • 53
    • 0020647043 scopus 로고
    • Oral administration of epsilon-N-acetyllysine and homocitrulline for lysinuric protein intolerance
    • Rajantie J, Simell O, Perheentupa J (1983) Oral administration of epsilon-N-acetyllysine and homocitrulline for lysinuric protein intolerance. J Pediatr 102:388-390
    • (1983) J Pediatr , vol.102 , pp. 388-390
    • Rajantie, J.1    Simell, O.2    Perheentupa, J.3
  • 54
    • 0042591428 scopus 로고    scopus 로고
    • Oral supplementation corrects plasma lysine concentrations in lysinuric protein intolerance
    • Lukkarinen M, Näntö-Salonen K, Pulkki K et al (2003) Oral supplementation corrects plasma lysine concentrations in lysinuric protein intolerance. Metabolism 52:935-938
    • (2003) Metabolism , vol.52 , pp. 935-938
    • Lukkarinen, M.1    Näntö-Salonen, K.2    Pulkki, K.3
  • 55
    • 0021174020 scopus 로고
    • Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis
    • Brusilow SW, Danney M, Waber LJ et al (1984) Treatment of episodic hyperammonemia in children with inborn errors of urea synthesis. N Engl J Med 310:1630-1634
    • (1984) N Engl J Med , vol.310 , pp. 1630-1634
    • Brusilow, S.W.1    Danney, M.2    Waber, L.J.3
  • 56
    • 0033926347 scopus 로고    scopus 로고
    • Treatment of hemophagocytic lymphohistiocytosis and alveolar proteinosis with cyclosporin A and steroids in a boy with lysinuric protein intolerance
    • Bader-Meunier B, Parez N, Muller S (2000) Treatment of hemophagocytic lymphohistiocytosis and alveolar proteinosis with cyclosporin A and steroids in a boy with lysinuric protein intolerance. J Pediatr 136:134
    • (2000) J Pediatr , vol.136 , pp. 134
    • Bader-Meunier, B.1    Parez, N.2    Muller, S.3
  • 57
    • 0000483834 scopus 로고
    • Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino aciduria and other bizarre biochemical features
    • Baron DN, Dent CE, Harris H, Hart EW, Jepson JB (1956) Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino aciduria and other bizarre biochemical features. Lancet 2:421-428
    • (1956) Lancet , vol.2 , pp. 421-428
    • Baron, D.N.1    Dent, C.E.2    Harris, H.3    Hart, E.W.4    Jepson, J.B.5
  • 58
    • 0023225590 scopus 로고
    • The Hartnup phenotype: Mendelian transport disorder, multifactorial disease
    • Scriver CR, Mahon B, Levy HL et al (1987) The Hartnup phenotype: Mendelian transport disorder, multifactorial disease. Am J Hum Genet 40:401-412
    • (1987) Am J Hum Genet , vol.40 , pp. 401-412
    • Scriver, C.R.1    Mahon, B.2    Levy, H.L.3
  • 59
    • 4444367483 scopus 로고    scopus 로고
    • Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder
    • Kleta R, Romeo E, Ristic Z et al (2004) Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nat Genet 36:999-1002
    • (2004) Nat Genet , vol.36 , pp. 999-1002
    • Kleta, R.1    Romeo, E.2    Ristic, Z.3
  • 60
    • 4444377675 scopus 로고    scopus 로고
    • Hartnup disorder is caused by mutation in the gene encoding the neutral amino acid transporter SLC6A19
    • Seow HF, Broer S, Broer A et al (2004) Hartnup disorder is caused by mutation in the gene encoding the neutral amino acid transporter SLC6A19. Nat Genet 36:1003-1007
    • (2004) Nat Genet , vol.36 , pp. 1003-1007
    • Seow, H.F.1    Broer, S.2    Broer, A.3
  • 61
    • 0003478053 scopus 로고
    • Hartnup disease: A genetic modification of intestinal and renal transport of certain neutral alpha amino acids
    • Scriver CR (1965) Hartnup disease: a genetic modification of intestinal and renal transport of certain neutral alpha amino acids. N Engl J Med 273:530-532
    • (1965) N Engl J Med , vol.273 , pp. 530-532
    • Scriver, C.R.1
  • 62
    • 0023225590 scopus 로고
    • The Hartnup phenotype: Mendelian transport disorder, multifactorial disease
    • Scriver CR, Mahon B, Levy HL et al (1987) The Hartnup phenotype: Mendelian transport disorder, multifactorial disease. Am J Hum Genet 40:401-412
    • (1987) Am J Hum Genet , vol.40 , pp. 401-412
    • Scriver, C.R.1    Mahon, B.2    Levy, H.L.3
  • 63
    • 0022498090 scopus 로고
    • Maternal Hartnup disorder
    • Mahon BE, Levy HL (1986) Maternal Hartnup disorder. Am J Med Genet 24:513-518
    • (1986) Am J Med Genet , vol.24 , pp. 513-518
    • Mahon, B.E.1    Levy, H.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.