-
1
-
-
46749144467
-
Cross-sectional multicenter study of patients with urea cycle disorders in the United States
-
Tuchman M., Lee B., Lichter-Konecki U., Summar M.L., Yudkoff M., et al. Cross-sectional multicenter study of patients with urea cycle disorders in the United States. Mol. Genet. Metab. 2008, 94:397-402.
-
(2008)
Mol. Genet. Metab.
, vol.94
, pp. 397-402
-
-
Tuchman, M.1
Lee, B.2
Lichter-Konecki, U.3
Summar, M.L.4
Yudkoff, M.5
-
2
-
-
77950521202
-
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria
-
Mercimek-Mahmutoglu S., Moeslinger D., Haberle J., Engel K., Herle M., et al. Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria. Mol. Genet. Metab. 2010, 100:24-28.
-
(2010)
Mol. Genet. Metab.
, vol.100
, pp. 24-28
-
-
Mercimek-Mahmutoglu, S.1
Moeslinger, D.2
Haberle, J.3
Engel, K.4
Herle, M.5
-
4
-
-
70349750064
-
Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening
-
Ficicioglu C., Mandell R., Shih V.E. Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. Mol. Genet. Metab. 2009, 98:273-277.
-
(2009)
Mol. Genet. Metab.
, vol.98
, pp. 273-277
-
-
Ficicioglu, C.1
Mandell, R.2
Shih, V.E.3
-
5
-
-
0015970085
-
Argininosuccinic aciduria: investigation of an affected family
-
Billmeier G.J., Molinary S.V., Wilroy R.S., Duenas D.A., Brannon M.E. Argininosuccinic aciduria: investigation of an affected family. J. Pediatr. 1974, 84:85-89.
-
(1974)
J. Pediatr.
, vol.84
, pp. 85-89
-
-
Billmeier, G.J.1
Molinary, S.V.2
Wilroy, R.S.3
Duenas, D.A.4
Brannon, M.E.5
-
6
-
-
0036877940
-
Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency
-
Mori T., Nagai K., Mori M., Nagao M., Imamura M., et al. Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency. Pediatr. Dev. Pathol. 2002, 5:597-601.
-
(2002)
Pediatr. Dev. Pathol.
, vol.5
, pp. 597-601
-
-
Mori, T.1
Nagai, K.2
Mori, M.3
Nagao, M.4
Imamura, M.5
-
8
-
-
84860747260
-
Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria
-
Nagamani S.C., Campeau P.M., Shchelochkov O.A., Premkumar M.H., Guse K., et al. Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria. Am. J. Hum. Genet. 2012, 90:836-846.
-
(2012)
Am. J. Hum. Genet.
, vol.90
, pp. 836-846
-
-
Nagamani, S.C.1
Campeau, P.M.2
Shchelochkov, O.A.3
Premkumar, M.H.4
Guse, K.5
-
9
-
-
67651211665
-
Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency?
-
Brunetti-Pierri N., Erez A., Shchelochkov O., Craigen W., Lee B. Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency?. Mol. Genet. Metab. 2009, 98:195-197.
-
(2009)
Mol. Genet. Metab.
, vol.98
, pp. 195-197
-
-
Brunetti-Pierri, N.1
Erez, A.2
Shchelochkov, O.3
Craigen, W.4
Lee, B.5
-
10
-
-
67349285169
-
Quantitative RT-PCR comparison of the urea and nitric oxide cycle gene transcripts in adult human tissues
-
Neill M.A., Aschner J., Barr F., Summar M.L. Quantitative RT-PCR comparison of the urea and nitric oxide cycle gene transcripts in adult human tissues. Mol. Genet. Metab. 2009, 97:121-127.
-
(2009)
Mol. Genet. Metab.
, vol.97
, pp. 121-127
-
-
Neill, M.A.1
Aschner, J.2
Barr, F.3
Summar, M.L.4
-
11
-
-
4744355192
-
Enzymes of arginine metabolism
-
(discussion 2765S-2767S)
-
Morris S.M. Enzymes of arginine metabolism. J. Nutr. 2004, 134:2743S-2747S. (discussion 2765S-2767S).
-
(2004)
J. Nutr.
, vol.134
-
-
Morris, S.M.1
-
12
-
-
4744367468
-
Arginine metabolic enzymes, nitric oxide and infection
-
(discussion 2853S)
-
Mori M., Gotoh T. Arginine metabolic enzymes, nitric oxide and infection. J. Nutr. 2004, 134:2820S-2825S. (discussion 2853S).
-
(2004)
J. Nutr.
, vol.134
-
-
Mori, M.1
Gotoh, T.2
-
13
-
-
0011335945
-
Cloning and sequence analysis of cDNA for human argininosuccinate lyase
-
O'Brien W.E., McInnes R., Kalumuck K., Adcock M. Cloning and sequence analysis of cDNA for human argininosuccinate lyase. Proc. Natl. Acad. Sci. U. S. A. 1986, 83:7211-7215.
-
(1986)
Proc. Natl. Acad. Sci. U. S. A.
, vol.83
, pp. 7211-7215
-
-
O'Brien, W.E.1
McInnes, R.2
Kalumuck, K.3
Adcock, M.4
-
14
-
-
70350374243
-
Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations
-
Trevisson E., Burlina A., Doimo M., Pertegato V., Casarin A., et al. Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations. J. Biol. Chem. 2009, 284:28926-28934.
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 28926-28934
-
-
Trevisson, E.1
Burlina, A.2
Doimo, M.3
Pertegato, V.4
Casarin, A.5
-
15
-
-
0030848314
-
Human argininosuccinate lyase: a structural basis for intragenic complementation
-
Turner M.A., Simpson A., McInnes R.R., Howell P.L. Human argininosuccinate lyase: a structural basis for intragenic complementation. Proc. Natl. Acad. Sci. U. S. A. 1997, 94:9063-9068.
-
(1997)
Proc. Natl. Acad. Sci. U. S. A.
, vol.94
, pp. 9063-9068
-
-
Turner, M.A.1
Simpson, A.2
McInnes, R.R.3
Howell, P.L.4
-
16
-
-
0034651835
-
The structure of adenylosuccinate lyase, an enzyme with dual activity in the de novo purine biosynthetic pathway
-
Toth E.A., Yeates T.O. The structure of adenylosuccinate lyase, an enzyme with dual activity in the de novo purine biosynthetic pathway. Structure 2000, 8:163-174.
-
(2000)
Structure
, vol.8
, pp. 163-174
-
-
Toth, E.A.1
Yeates, T.O.2
-
17
-
-
0023709864
-
Homology of delta crystallin and argininosuccinate lyase
-
Yeh L.S., Elzanowski A., Hunt L.T., Barker W.C. Homology of delta crystallin and argininosuccinate lyase. Comp. Biochem. Physiol. B 1988, 89:433-437.
-
(1988)
Comp. Biochem. Physiol. B
, vol.89
, pp. 433-437
-
-
Yeh, L.S.1
Elzanowski, A.2
Hunt, L.T.3
Barker, W.C.4
-
18
-
-
0023225865
-
Recruitment of enzymes as lens structural proteins
-
Wistow G., Piatigorsky J. Recruitment of enzymes as lens structural proteins. Science 1987, 236:1554-1556.
-
(1987)
Science
, vol.236
, pp. 1554-1556
-
-
Wistow, G.1
Piatigorsky, J.2
-
19
-
-
0033596741
-
Crystal structure of an inactive duck delta II crystallin mutant with bound argininosuccinate
-
Vallee F., Turner M.A., Lindley P.L., Howell P.L. Crystal structure of an inactive duck delta II crystallin mutant with bound argininosuccinate. Biochemistry 1999, 38:2425-2434.
-
(1999)
Biochemistry
, vol.38
, pp. 2425-2434
-
-
Vallee, F.1
Turner, M.A.2
Lindley, P.L.3
Howell, P.L.4
-
20
-
-
0026589585
-
Biochemical characterization and kinetic analysis of duck delta-crystallin with endogenous argininosuccinate lyase activity
-
Lee H.J., Chiou S.H., Chang G.G. Biochemical characterization and kinetic analysis of duck delta-crystallin with endogenous argininosuccinate lyase activity. Biochem. J. 1992, 283(Pt 2):597-603.
-
(1992)
Biochem. J.
, vol.283
, Issue.PART 2
, pp. 597-603
-
-
Lee, H.J.1
Chiou, S.H.2
Chang, G.G.3
-
21
-
-
84856100270
-
Requirement of argininosuccinate lyase for systemic nitric oxide production
-
Erez A., Nagamani S.C., Shchelochkov O.A., Premkumar M.H., Campeau P.M., et al. Requirement of argininosuccinate lyase for systemic nitric oxide production. Nat. Med. 2011, 17:1619-1626.
-
(2011)
Nat. Med.
, vol.17
, pp. 1619-1626
-
-
Erez, A.1
Nagamani, S.C.2
Shchelochkov, O.A.3
Premkumar, M.H.4
Campeau, P.M.5
-
22
-
-
0001564260
-
Urea cycle enzymes
-
McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Vogelstein (Eds.)
-
Brusilow S., Horwich A. Urea cycle enzymes. Online Metabolic and Molecular Bases of Inherited Disease 2009, 1-129. McGraw-Hill, New York. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle, B. Vogelstein (Eds.).
-
(2009)
Online Metabolic and Molecular Bases of Inherited Disease
, pp. 1-129
-
-
Brusilow, S.1
Horwich, A.2
-
23
-
-
0021137740
-
Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency
-
McInnes R.R., Shih V., Chilton S. Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency. Proc. Natl. Acad. Sci. U. S. A. 1984, 81:4480-4484.
-
(1984)
Proc. Natl. Acad. Sci. U. S. A.
, vol.81
, pp. 4480-4484
-
-
McInnes, R.R.1
Shih, V.2
Chilton, S.3
-
24
-
-
0030980494
-
Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles
-
Walker D.C., Christodoulou J., Craig H.J., Simard L.R., Ploder L., et al. Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles. J. Biol. Chem. 1997, 272:6777-6783.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 6777-6783
-
-
Walker, D.C.1
Christodoulou, J.2
Craig, H.J.3
Simard, L.R.4
Ploder, L.5
-
25
-
-
0036820530
-
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene
-
Linnebank M., Tschiedel E., Haberle J., Linnebank A., Willenbring H., et al. Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene. Hum. Genet. 2002, 111:350-359.
-
(2002)
Hum. Genet.
, vol.111
, pp. 350-359
-
-
Linnebank, M.1
Tschiedel, E.2
Haberle, J.3
Linnebank, A.4
Willenbring, H.5
-
26
-
-
33745907851
-
Inefficient spin trapping of superoxide in the presence of nitric-oxide: implications for studies on nitric-oxide synthase uncoupling
-
Pignitter M., Gorren A.C., Nedeianu S., Schmidt K., Mayer B. Inefficient spin trapping of superoxide in the presence of nitric-oxide: implications for studies on nitric-oxide synthase uncoupling. Free Radic. Biol. Med. 2006, 41:455-463.
-
(2006)
Free Radic. Biol. Med.
, vol.41
, pp. 455-463
-
-
Pignitter, M.1
Gorren, A.C.2
Nedeianu, S.3
Schmidt, K.4
Mayer, B.5
-
27
-
-
0242666181
-
Phosphorylation of threonine 497 in endothelial nitric-oxide synthase coordinates the coupling of l-arginine metabolism to efficient nitric oxide production
-
Lin M.I., Fulton D., Babbitt R., Fleming I., Busse R., et al. Phosphorylation of threonine 497 in endothelial nitric-oxide synthase coordinates the coupling of l-arginine metabolism to efficient nitric oxide production. J. Biol. Chem. 2003, 278:44719-44726.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 44719-44726
-
-
Lin, M.I.1
Fulton, D.2
Babbitt, R.3
Fleming, I.4
Busse, R.5
-
28
-
-
0035805555
-
Oxygen reduction by nitric-oxide synthases
-
Stuehr D., Pou S., Rosen G.M. Oxygen reduction by nitric-oxide synthases. J. Biol. Chem. 2001, 276:14533-14536.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 14533-14536
-
-
Stuehr, D.1
Pou, S.2
Rosen, G.M.3
-
29
-
-
0026754574
-
Reactive oxygen species and the central nervous system
-
Halliwell B. Reactive oxygen species and the central nervous system. J. Neurochem. 1992, 59:1609-1623.
-
(1992)
J. Neurochem.
, vol.59
, pp. 1609-1623
-
-
Halliwell, B.1
-
30
-
-
0037307003
-
Inhibition of arginine synthesis by urea: a mechanism for arginine deficiency in renal failure which leads to increased hydroxyl radical generation
-
Aoyagi K. Inhibition of arginine synthesis by urea: a mechanism for arginine deficiency in renal failure which leads to increased hydroxyl radical generation. Mol. Cell. Biochem. 2003, 244:11-15.
-
(2003)
Mol. Cell. Biochem.
, vol.244
, pp. 11-15
-
-
Aoyagi, K.1
-
31
-
-
0035130256
-
Role of nitric oxide in the synthesis of guanidinosuccinic acid, an activator of the N-methyl-d-aspartate receptor
-
Aoyagi K., Shahrzad S., Iida S., Tomida C., Hirayama A., et al. Role of nitric oxide in the synthesis of guanidinosuccinic acid, an activator of the N-methyl-d-aspartate receptor. Kidney Int. Suppl. 2001, 78:S93-S96.
-
(2001)
Kidney Int. Suppl.
, vol.78
-
-
Aoyagi, K.1
Shahrzad, S.2
Iida, S.3
Tomida, C.4
Hirayama, A.5
-
32
-
-
0026478010
-
Convulsive action and toxicity of uremic guanidino compounds: behavioral assessment and relation to brain concentration in adult mice
-
D'Hooge R., Pei Y.Q., Marescau B., De Deyn P.P. Convulsive action and toxicity of uremic guanidino compounds: behavioral assessment and relation to brain concentration in adult mice. J. Neurol. Sci. 1992, 112:96-105.
-
(1992)
J. Neurol. Sci.
, vol.112
, pp. 96-105
-
-
D'Hooge, R.1
Pei, Y.Q.2
Marescau, B.3
De Deyn, P.P.4
-
33
-
-
0026724945
-
Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapy
-
Widhalm K., Koch S., Scheibenreiter S., Knoll E., Colombo J.P., et al. Long-term follow-up of 12 patients with the late-onset variant of argininosuccinic acid lyase deficiency: no impairment of intellectual and psychomotor development during therapy. Pediatrics 1992, 89:1182-1184.
-
(1992)
Pediatrics
, vol.89
, pp. 1182-1184
-
-
Widhalm, K.1
Koch, S.2
Scheibenreiter, S.3
Knoll, E.4
Colombo, J.P.5
-
34
-
-
84891745432
-
A randomized, double-blind, crossover study comparing effects of sodium phenylbutyrate and low-dose arginine therapy with high dose arginine therapy on liver function and ureagenesis in patients with argininosuccinic aciduria
-
Elsevier, Charlotte, NC, Society for Inherited Metabolic Disorders
-
Nagamani S.C.S., Shchelochkov O.A., Mullins M.A., Carter S., Tran A.M., et al. A randomized, double-blind, crossover study comparing effects of sodium phenylbutyrate and low-dose arginine therapy with high dose arginine therapy on liver function and ureagenesis in patients with argininosuccinic aciduria. Mol Genet and Metab 2012, 105:293. Elsevier, Charlotte, NC.
-
(2012)
Mol Genet and Metab
, vol.105
, pp. 293
-
-
Nagamani, S.C.S.1
Shchelochkov, O.A.2
Mullins, M.A.3
Carter, S.4
Tran, A.M.5
-
35
-
-
73349121330
-
Nitrate and nitrite in biology, nutrition and therapeutics
-
Lundberg J.O., Gladwin M.T., Ahluwalia A., Benjamin N., Bryan N.S., et al. Nitrate and nitrite in biology, nutrition and therapeutics. Nat. Chem. Biol. 2009, 5:865-869.
-
(2009)
Nat. Chem. Biol.
, vol.5
, pp. 865-869
-
-
Lundberg, J.O.1
Gladwin, M.T.2
Ahluwalia, A.3
Benjamin, N.4
Bryan, N.S.5
-
36
-
-
38849162730
-
The nitrate-nitrite-nitric oxide pathway in physiology and therapeutics
-
Lundberg J.O., Weitzberg E., Gladwin M.T. The nitrate-nitrite-nitric oxide pathway in physiology and therapeutics. Nat. Rev. Drug Discov. 2008, 7:156-167.
-
(2008)
Nat. Rev. Drug Discov.
, vol.7
, pp. 156-167
-
-
Lundberg, J.O.1
Weitzberg, E.2
Gladwin, M.T.3
|