-
1
-
-
50549192830
-
Protein intolerance with deficient transport of basic amino acids
-
J. Perheentupa, and J.K. Visakorpi Protein intolerance with deficient transport of basic amino acids Lancet 2 1965 813 816
-
(1965)
Lancet
, vol.2
, pp. 813-816
-
-
Perheentupa, J.1
Visakorpi, J.K.2
-
2
-
-
0032484216
-
Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. a candidate gene for lysinuric protein intolerance
-
D. Torrents, R. Estevez, and M. Pineda Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance J Biol Chem 273 1998 32437 32445
-
(1998)
J Biol Chem
, vol.273
, pp. 32437-32445
-
-
Torrents, D.1
Estevez, R.2
Pineda, M.3
-
3
-
-
0344699322
-
Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene
-
D. Torrents, J. Mykkänen, and M. Pineda Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene Nat Genet 21 1999 293 296
-
(1999)
Nat Genet
, vol.21
, pp. 293-296
-
-
Torrents, D.1
Mykkänen, J.2
Pineda, M.3
-
4
-
-
0018839583
-
Basolateral membrane transport defect for lysine in lysinuric protein intolerance
-
J. Rajantie, O. Simell, and J. Perheentupa 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
-
5
-
-
0023444749
-
Lysinuric protein intolerance mutation is expressed in the plasma membrane of cultured skin fibroblasts
-
D.W. Smith, C.R. Scriver, H.S. Tenenhouse, and O. Simell Lysinuric protein intolerance mutation is expressed in the plasma membrane of cultured skin fibroblasts Proc Natl Acad Sci U S A 84 1987 7711 7715
-
(1987)
Proc Natl Acad Sci U S a
, vol.84
, pp. 7711-7715
-
-
Smith, D.W.1
Scriver, C.R.2
Tenenhouse, H.S.3
Simell, O.4
-
6
-
-
0002248054
-
Lysinuric protein intolerance and other cationic aminoacidurias
-
C.S. Scriver A.L. Beaucert W.S. Sly D. Valle McGraw-Hill New York
-
O. Simell Lysinuric protein intolerance and other cationic aminoacidurias C.S. Scriver A.L. Beaucert W.S. Sly D. Valle 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
-
7
-
-
0342445416
-
Functional analysis of novel mutations in y+LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI)
-
J. Mykkänen, D. Torrents, and M. Pineda Functional analysis of novel mutations in y+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
-
8
-
-
0019167524
-
Changes in peripheral blood cells and serum ferritin in lysinuric protein intolerance
-
J. Rajantie, O. Simell, J. Perheentupa, and M.A. Siimes Changes in peripheral blood cells and serum ferritin in lysinuric protein intolerance Acta Paediatr Scand 69 1980 741 745
-
(1980)
Acta Paediatr Scand
, vol.69
, pp. 741-745
-
-
Rajantie, J.1
Simell, O.2
Perheentupa, J.3
Siimes, M.A.4
-
9
-
-
0016593217
-
Lysinuric protein intolerance
-
O. Simell, J. Perheentupa, J. Rapola, J.K. Visakorpi, and L.-E. Eskelin 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
-
10
-
-
0033030431
-
B and T cell immunity in patients with lysinuric protein intolerance
-
M. Lukkarinen, K. Parto, O. Ruuskanen, O. Vainio, R. Käyhty, and R.-M. Ölander 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
Vainio, O.4
Käyhty, R.5
Ölander, R.-M.6
-
11
-
-
0031960344
-
Varicella and varicella immunity in patients with lysinuric protein intolerance
-
M. Lukkarinen, K. Näntö-Salonen, and O. Ruuskanen 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
-
12
-
-
0027180730
-
Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance
-
M. DiRocco, G. Garibotto, and G.A. Rossi Role of haematological, pulmonary and renal complications in the long-term prognosis of patients with lysinuric protein intolerance Eur J Pediatr 152 1993 437 440
-
(1993)
Eur J Pediatr
, vol.152
, pp. 437-440
-
-
Dirocco, M.1
Garibotto, G.2
Rossi, G.A.3
-
13
-
-
0027358965
-
Pulmonary manifestations in lysinuric protein intolerance
-
K. Parto, E. Svedström, M.-L. Majurin, R. Härkönen, and O. Simell Pulmonary manifestations in lysinuric protein intolerance Chest 104 1993 1176 1182
-
(1993)
Chest
, vol.104
, pp. 1176-1182
-
-
Parto, K.1
Svedström, E.2
Majurin, M.-L.3
Härkönen, R.4
Simell, O.5
-
14
-
-
0019124313
-
Lysinuric protein intolerance: A two-year trial of dietary supplementation therapy with citrulline and lysine
-
J. Rajantie, O. Simell, J. Rapola, and J. Perheentupa 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
-
15
-
-
0025296601
-
Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. a cause of postpartum coma
-
P.H. Arn, E.R. Hauser, G.H. Thomas, G. Herman, D. Hess, and S.W. Brusilow Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma N Engl J Med 322 1990 1652 1655
-
(1990)
N Engl J Med
, vol.322
, pp. 1652-1655
-
-
Arn, P.H.1
Hauser, E.R.2
Thomas, G.H.3
Herman, G.4
Hess, D.5
Brusilow, S.W.6
-
16
-
-
0142044731
-
Homocysteine and other plasma amino acids in preeclampsia and in pregnancies without complications
-
E. Lopez-Quesada, M.-A. Vilaseca, R. Artuch, E. Gomez, and J.M. Lailla Homocysteine and other plasma amino acids in preeclampsia and in pregnancies without complications Clin Biochem 36 2003 185 192
-
(2003)
Clin Biochem
, vol.36
, pp. 185-192
-
-
Lopez-Quesada, E.1
Vilaseca, M.-A.2
Artuch, R.3
Gomez, E.4
Lailla, J.M.5
-
17
-
-
0023179240
-
Do placental weights have clinical significance?
-
R. Naeye Do placental weights have clinical significance? Hum Pathol 18 1987 387 391
-
(1987)
Hum Pathol
, vol.18
, pp. 387-391
-
-
Naeye, R.1
-
18
-
-
0032879240
-
Human fetal-placental weight ratio in normal singleton near-term pregnancies
-
S. Lurie, M. Feinstein, and Y. Mamet Human fetal-placental weight ratio in normal singleton near-term pregnancies Gynecol Obstet Invest 48 1999 155 157
-
(1999)
Gynecol Obstet Invest
, vol.48
, pp. 155-157
-
-
Lurie, S.1
Feinstein, M.2
Mamet, Y.3
-
20
-
-
0019516625
-
Ferritinemia with subnormal iron stores in lysinuric protein intolerance
-
J. Rajantie, J. Rapola, and M.A. Siimes Ferritinemia with subnormal iron stores in lysinuric protein intolerance Metabolism 30 1981 3 5
-
(1981)
Metabolism
, vol.30
, pp. 3-5
-
-
Rajantie, J.1
Rapola, J.2
Siimes, M.A.3
-
21
-
-
0028863232
-
The free form of insulin-like growth factor I increases in circulation during normal human pregnancy
-
T. Hasegawa, Y. Hasegawa, M. Takada, and Y. Tsuchiya The free form of insulin-like growth factor I increases in circulation during normal human pregnancy J Clin Endocrinol Metab 80 1995 3284 3286
-
(1995)
J Clin Endocrinol Metab
, vol.80
, pp. 3284-3286
-
-
Hasegawa, T.1
Hasegawa, Y.2
Takada, M.3
Tsuchiya, Y.4
-
22
-
-
0029781178
-
Effect of low-protein diet-induced intrauterine growth retardation on rat placental amino acid transport
-
M.S. Malandro, M.J. Beveridge, M.S. Kilberg, and D.A. Novak Effect of low-protein diet-induced intrauterine growth retardation on rat placental amino acid transport Am J Physiol 271 1996 C295 C303
-
(1996)
Am J Physiol
, vol.271
-
-
Malandro, M.S.1
Beveridge, M.J.2
Kilberg, M.S.3
Novak, D.A.4
-
23
-
-
4644248789
-
Effect of maternal malnutrition and anemia on the endocrine regulation of fetal growth
-
S.D. Mahajan, S. Singh, P. Shah, N. Gupta, and N. Kochupillai Effect of maternal malnutrition and anemia on the endocrine regulation of fetal growth Endocr Res 30 2004 189 203
-
(2004)
Endocr Res
, vol.30
, pp. 189-203
-
-
Mahajan, S.D.1
Singh, S.2
Shah, P.3
Gupta, N.4
Kochupillai, N.5
-
24
-
-
30744449428
-
Pre-eklampsia ja muu raskauden aikainen verenpaineen nousu
-
O. Ylikorkala A. Kauppila Kustannus Oy Duodecim Vammala
-
O. Ylikorkala Pre-eklampsia ja muu raskauden aikainen verenpaineen nousu O. Ylikorkala A. Kauppila Naistentaudit ja synnytykset 2001 Kustannus Oy Duodecim Vammala 411 419
-
(2001)
Naistentaudit Ja Synnytykset
, pp. 411-419
-
-
Ylikorkala, O.1
-
25
-
-
0029893242
-
Treatment of hypertension in pregnant women
-
B. Sibai Treatment of hypertension in pregnant women N Engl J Med 335 1996 257 265
-
(1996)
N Engl J Med
, vol.335
, pp. 257-265
-
-
Sibai, B.1
-
26
-
-
0012746562
-
Placental development in normal and compromised pregnancies-a review
-
T.R.H. Regnault, H.L. Galan, T.A. Parker, and R.V. Anthony Placental development in normal and compromised pregnancies-a review Placenta 23 Suppl A 2002 S119 S129
-
(2002)
Placenta
, vol.23
, Issue.SUPPL. A
-
-
Regnault, T.R.H.1
Galan, H.L.2
Parker, T.A.3
Anthony, R.V.4
-
27
-
-
0036191648
-
Hyperzincemia with systemic inflammation: A heritable disorder of calprotectin metabolism with rheumatic manifestations?
-
Y. Saito, K. Saito, and Y. Hirano Hyperzincemia with systemic inflammation: a heritable disorder of calprotectin metabolism with rheumatic manifestations? J Pediatr 140 2002 267 269
-
(2002)
J Pediatr
, vol.140
, pp. 267-269
-
-
Saito, Y.1
Saito, K.2
Hirano, Y.3
-
28
-
-
0037202853
-
Hyperzincaemia and hypercalprotectinaemia: A new disorder of zinc metabolism
-
B. Sampson, M.K. Fagerhol, and C. Sunderkötter Hyperzincaemia and hypercalprotectinaemia: a new disorder of zinc metabolism Lancet 360 2002 1742 1745
-
(2002)
Lancet
, vol.360
, pp. 1742-1745
-
-
Sampson, B.1
Fagerhol, M.K.2
Sunderkötter, C.3
-
29
-
-
0027511141
-
Skeletal manifestations of lysinuric protein intolerance. a follow-up study of 29 patients
-
E. Svedström, K. Parto, M. Marttinen, P. Virtama, and O. Simell Skeletal manifestations of lysinuric protein intolerance. A follow-up study of 29 patients Skeletal Radiol 22 1999 11 16
-
(1999)
Skeletal Radiol
, vol.22
, pp. 11-16
-
-
Svedström, E.1
Parto, K.2
Marttinen, M.3
Virtama, P.4
Simell, O.5
-
30
-
-
0026695831
-
Longitudinal study of serum thyroid hormone levels during pregnancy
-
P.C. O'Leary, P. Boyne, G. Atkinson, K.-J. Mileham, and I. James Longitudinal study of serum thyroid hormone levels during pregnancy Int J Gynecol Obstet 38 1992 171 179
-
(1992)
Int J Gynecol Obstet
, vol.38
, pp. 171-179
-
-
O'Leary, P.C.1
Boyne, P.2
Atkinson, G.3
Mileham, K.-J.4
James, I.5
-
31
-
-
0033584469
-
Maternal thyroid deficiency during pregnancy and subsequent neuropsychological development of the child
-
J.E. Haddow, G.E. Palomaki, and W.C. Allan Maternal thyroid deficiency during pregnancy and subsequent neuropsychological development of the child N Engl J Med 341 1999 549 555
-
(1999)
N Engl J Med
, vol.341
, pp. 549-555
-
-
Haddow, J.E.1
Palomaki, G.E.2
Allan, W.C.3
-
32
-
-
0034048891
-
Re-evaluation of plasma creatinine concentration in normal pregnancy
-
J.C. Girling Re-evaluation of plasma creatinine concentration in normal pregnancy J Obstet Gynaecol 20 2000 128 131
-
(2000)
J Obstet Gynaecol
, vol.20
, pp. 128-131
-
-
Girling, J.C.1
-
33
-
-
0030052576
-
Diet in pregnancy and the offspring's blood pressure 40 years later
-
D.M. Campbell, M.H. Hall, D.J. Barker, J. Cross, A.W. Shiell, and K.M. Godfrey Diet in pregnancy and the offspring's blood pressure 40 years later Br J Obstet Gynaecol 103 1996 273 280
-
(1996)
Br J Obstet Gynaecol
, vol.103
, pp. 273-280
-
-
Campbell, D.M.1
Hall, M.H.2
Barker, D.J.3
Cross, J.4
Shiell, A.W.5
Godfrey, K.M.6
-
34
-
-
0026316923
-
Islet function in offspring of mothers on low-protein diet during gestation
-
S. Dahri, A. Snoeck, B. Reusens-Billen, C. Remacle, and J.J. Hoet Islet function in offspring of mothers on low-protein diet during gestation Diabetes 40 Suppl 2 1991 115 120
-
(1991)
Diabetes
, vol.40
, Issue.2 SUPPL.
, pp. 115-120
-
-
Dahri, S.1
Snoeck, A.2
Reusens-Billen, B.3
Remacle, C.4
Hoet, J.J.5
-
35
-
-
0032539468
-
Glucose tolerance in adults after prenatal exposure to famine
-
A.C.J. Ravelli, J.H.P. van der Meulen, and R.P.J. Michels Glucose tolerance in adults after prenatal exposure to famine Lancet 351 1998 173 177
-
(1998)
Lancet
, vol.351
, pp. 173-177
-
-
Ravelli, A.C.J.1
Van Der Meulen, J.H.P.2
Michels, R.P.J.3
-
36
-
-
0030771971
-
Maternal nutrition, fetal nutrition, and disease in later life
-
D.J. Barker Maternal nutrition, fetal nutrition, and disease in later life Nutrition 13 1997 807 813
-
(1997)
Nutrition
, vol.13
, pp. 807-813
-
-
Barker, D.J.1
-
37
-
-
0028796489
-
Lysinuric protein intolerance in pregnancy: Case report with successful outcome
-
N. Takayama, H. Hamada, and T. Kubo Lysinuric protein intolerance in pregnancy: case report with successful outcome Arch Gynecol Obstet 256 1995 49 52
-
(1995)
Arch Gynecol Obstet
, vol.256
, pp. 49-52
-
-
Takayama, N.1
Hamada, H.2
Kubo, T.3
|