-
1
-
-
0029690198
-
Urea cycle disorders: Diagnosis, pathophysiology, and therapy
-
Brusilow S.W., Maestri N.E. Urea cycle disorders: diagnosis, pathophysiology, and therapy. Adv. Pediatr. 43:1996;127-170.
-
(1996)
Adv. Pediatr.
, vol.43
, pp. 127-170
-
-
Brusilow, S.W.1
Maestri, N.E.2
-
2
-
-
0001564260
-
Urea cycle enzymes
-
eighth ed. C.R. Scriver, A.L. Beaudet, D. Valle, Sly W.S. New York: McGraw-Hill
-
Brusilow S.W., Horwich A.L. Urea cycle enzymes. eighth ed. Scriver C.R., Beaudet A.L., Valle D., Sly W.S. The Metabolic and Molecular Bases of Inherited Disease. vol. 8:2001;1909-1961 McGraw-Hill, New York.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, vol.8
, pp. 1909-1961
-
-
Brusilow, S.W.1
Horwich, A.L.2
-
3
-
-
0035139898
-
Proceedings of a consensus conference for the management of patients with urea cycle disorders
-
Summar M., Tuchman M. Proceedings of a consensus conference for the management of patients with urea cycle disorders. J. Pediatr. 138:2001;S1-S10.
-
(2001)
J. Pediatr.
, vol.138
-
-
Summar, M.1
Tuchman, M.2
-
4
-
-
0033631258
-
Incidence of inborn errors of metabolism in British Columbia 1969-1996
-
Applegarth D.A., Toone J.R., Lowry R.B. Incidence of inborn errors of metabolism in British Columbia 1969-1996. Pediatrics. 105:2000;e10.
-
(2000)
Pediatrics
, vol.105
, pp. 10
-
-
Applegarth, D.A.1
Toone, J.R.2
Lowry, R.B.3
-
5
-
-
0029690198
-
Urea cycle disorders: Diagnosis, pathophysiology, and therapy
-
Brusilow S.W., Maestri N.E. Urea cycle disorders: diagnosis, pathophysiology, and therapy. Adv. Pediatr. 43:1996;127-170.
-
(1996)
Adv. Pediatr.
, vol.43
, pp. 127-170
-
-
Brusilow, S.W.1
Maestri, N.E.2
-
6
-
-
0035142619
-
Current strategies for the management of neonatal urea cycle disorders
-
Summar M. Current strategies for the management of neonatal urea cycle disorders. J. Pediatr. 138:2001;S30-S39.
-
(2001)
J. Pediatr.
, vol.138
-
-
Summar, M.1
-
7
-
-
0019319139
-
Amino acid acylation: A mechanism of nitrogen excretion in inborn errors of urea synthesis
-
Brusilow S., Tinker J., Batshaw M.L. Amino acid acylation: a mechanism of nitrogen excretion in inborn errors of urea synthesis. Science. 207:1980;659-661.
-
(1980)
Science
, vol.207
, pp. 659-661
-
-
Brusilow, S.1
Tinker, J.2
Batshaw, M.L.3
-
8
-
-
0035145334
-
Alternative pathway therapy for urea cycle disorders: Twenty years later
-
Batshaw M.L., MacArthur R.B., Tuchman M. Alternative pathway therapy for urea cycle disorders: twenty years later. J. Pediatr. 138:2001;S46-S55.
-
(2001)
J. Pediatr.
, vol.138
-
-
Batshaw, M.L.1
MacArthur, R.B.2
Tuchman, M.3
-
9
-
-
0037944015
-
Outcome and survival of 88 patients with urea cycle disorders: A retrospective evaluation
-
Bachmann C. Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation. Eur. J. Pediatr. 162:2003;410-416.
-
(2003)
Eur. J. Pediatr.
, vol.162
, pp. 410-416
-
-
Bachmann, C.1
-
10
-
-
0036164461
-
Mutations and polymorphisms in the human ornithine transcarbamylase gene
-
Tuchman M., Jaleel N., Morizono H., Sheehy L., Lynch M.G. Mutations and polymorphisms in the human ornithine transcarbamylase gene. Hum. Mutat. 19:2002;93-107.
-
(2002)
Hum. Mutat.
, vol.19
, pp. 93-107
-
-
Tuchman, M.1
Jaleel, N.2
Morizono, H.3
Sheehy, L.4
Lynch, M.G.5
-
11
-
-
0025293198
-
Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women
-
Hauser E.R., Finkelstein J.E., Valle D., Brusilow S.W. Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women. N. Engl. J. Med. 322:1990;1641-1645.
-
(1990)
N. Engl. J. Med.
, vol.322
, pp. 1641-1645
-
-
Hauser, E.R.1
Finkelstein, J.E.2
Valle, D.3
Brusilow, S.W.4
-
12
-
-
0032953027
-
The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease
-
Bonham J.R., Guthrie P., Downing M., Allen J.C., Tanner M.S., Sharrard M., Rittey C., Land J.M., Fensom A., O'Neill D., Duley J.A., Fairbanks L.D. The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease. J. Inherit. Metab. Dis. 22:1999;174-184.
-
(1999)
J. Inherit. Metab. Dis.
, vol.22
, pp. 174-184
-
-
Bonham, J.R.1
Guthrie, P.2
Downing, M.3
Allen, J.C.4
Tanner, M.S.5
Sharrard, M.6
Rittey, C.7
Land, J.M.8
Fensom, A.9
O'Neill, D.10
Duley, J.A.11
Fairbanks, L.D.12
-
13
-
-
0035100541
-
Ornithine carbamoyltransferase deficiency: Improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes
-
Potter M., Hammond J.W., Sim K.G., Green A.K., Wilcken B. Ornithine carbamoyltransferase deficiency: improved sensitivity of testing for protein tolerance in the diagnosis of heterozygotes. J. Inherit. Metab. Dis. 24:2001;5-14.
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, pp. 5-14
-
-
Potter, M.1
Hammond, J.W.2
Sim, K.G.3
Green, A.K.4
Wilcken, B.5
-
14
-
-
0034608941
-
In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle
-
Lee B., Yu H., Jahoor F., O'Brien W., Beaudet A.L., Reeds P. In vivo urea cycle flux distinguishes and correlates with phenotypic severity in disorders of the urea cycle. Proc. Natl. Acad. Sci. USA. 97:2000;8021-8026.
-
(2000)
Proc. Natl. Acad. Sci. USA
, vol.97
, pp. 8021-8026
-
-
Lee, B.1
Yu, H.2
Jahoor, F.3
O'Brien, W.4
Beaudet, A.L.5
Reeds, P.6
-
15
-
-
0036140891
-
An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency
-
Scaglia F., Zheng Q., O'Brien W.E., Henry J., Rosenberger J., Reeds P., Lee B. An integrated approach to the diagnosis and prospective management of partial ornithine transcarbamylase deficiency. Pediatrics. 109:2002;150-152.
-
(2002)
Pediatrics
, vol.109
, pp. 150-152
-
-
Scaglia, F.1
Zheng, Q.2
O'Brien, W.E.3
Henry, J.4
Rosenberger, J.5
Reeds, P.6
Lee, B.7
-
16
-
-
0037380024
-
Quantification of glutamine in dried blood spots and plasma by tandem mass spectrometry for the biochemical diagnosis and monitoring of ornithine transcarbamylase deficiency
-
Trinh M.U., Blake J., Harrison J.R., Gerace R., Ranieri E., Fletcher J.M., Johnson D.W. Quantification of glutamine in dried blood spots and plasma by tandem mass spectrometry for the biochemical diagnosis and monitoring of ornithine transcarbamylase deficiency. Clin. Chem. 49:2003;681-684.
-
(2003)
Clin. Chem.
, vol.49
, pp. 681-684
-
-
Trinh, M.U.1
Blake, J.2
Harrison, J.R.3
Gerace, R.4
Ranieri, E.5
Fletcher, J.M.6
Johnson, D.W.7
-
17
-
-
0035138108
-
Quantification of benzoic, phenylacetic, and phenylbutyric acids from filter-paper blood spots by gas chromatography-mass spectrometry with stable isotope dilution
-
Yu X., Thompson M.M., Shi D., Tuchman M. Quantification of benzoic, phenylacetic, and phenylbutyric acids from filter-paper blood spots by gas chromatography-mass spectrometry with stable isotope dilution. Clin. Chem. 47:2001;351-354.
-
(2001)
Clin. Chem.
, vol.47
, pp. 351-354
-
-
Yu, X.1
Thompson, M.M.2
Shi, D.3
Tuchman, M.4
-
18
-
-
0034076850
-
Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia
-
Praphanphoj V., Boyadjiev S.A., Waber L.J., Brusilow S.W., Geraghty M.T. Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia. J. Inherit. Metab. Dis. 23:2000;129-136.
-
(2000)
J. Inherit. Metab. Dis.
, vol.23
, pp. 129-136
-
-
Praphanphoj, V.1
Boyadjiev, S.A.2
Waber, L.J.3
Brusilow, S.W.4
Geraghty, M.T.5
-
19
-
-
0035140623
-
Long-term management of patients with urea cycle disorders
-
Berry G.T., Steiner R.D. Long-term management of patients with urea cycle disorders. J. Pediatr. 138:2001;S56-S61.
-
(2001)
J. Pediatr.
, vol.138
-
-
Berry, G.T.1
Steiner, R.D.2
-
20
-
-
0035145675
-
The nutritional management of urea cycle disorders
-
Leonard J.V. The nutritional management of urea cycle disorders. J. Pediatr. 138:2001;S40-S45.
-
(2001)
J. Pediatr.
, vol.138
-
-
Leonard, J.V.1
-
21
-
-
0037685217
-
Screening newborns for inborn errors of metabolism by tandem mass spectrometry
-
Wilcken B., Wiley V., Hammond J., Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. N. Engl. J. Med. 348:2003;2304-2312.
-
(2003)
N. Engl. J. Med.
, vol.348
, pp. 2304-2312
-
-
Wilcken, B.1
Wiley, V.2
Hammond, J.3
Carpenter, K.4
|