-
1
-
-
0029690198
-
Urea cycle disorders: diagnosis, pathophysiology, and therapy
-
Brusilow S.W., Maestri N.E. Urea cycle disorders: diagnosis, pathophysiology, and therapy. Adv. Pediatr. 1996, 43:127-170.
-
(1996)
Adv. Pediatr.
, vol.43
, pp. 127-170
-
-
Brusilow, S.W.1
Maestri, N.E.2
-
2
-
-
0021187612
-
Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies
-
Msall M., Batshaw M.L., Suss R., Brusilow S.W., Mellits E.D. Neurologic outcome in children with inborn errors of urea synthesis. Outcome of urea-cycle enzymopathies. N. Engl. J. Med. 1984, 310(23):1500-1505. 10.1056/NEJM198406073102304.
-
(1984)
N. Engl. J. Med.
, vol.310
, Issue.23
, pp. 1500-1505
-
-
Msall, M.1
Batshaw, M.L.2
Suss, R.3
Brusilow, S.W.4
Mellits, E.D.5
-
3
-
-
84862094822
-
Suggested guidelines for the diagnosis and management of urea cycle disorders
-
Haberle J., Boddaert N., Burlina A., Chakrapani A., Dixon M., Huemer M., et al. Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet J. Rare Dis. 2012, 7:32. 10.1186/1750-1172-7-32.
-
(2012)
Orphanet J. Rare Dis.
, vol.7
, pp. 32
-
-
Haberle, J.1
Boddaert, N.2
Burlina, A.3
Chakrapani, A.4
Dixon, M.5
Huemer, M.6
-
4
-
-
0036461110
-
Neurological outcome of patients with ornithine carbamoyltransferase deficiency
-
Nicolaides P., Liebsch D., Dale N., Leonard J., Surtees R. Neurological outcome of patients with ornithine carbamoyltransferase deficiency. Arch. Dis. Child. 2002, 86(1):54-56.
-
(2002)
Arch. Dis. Child.
, vol.86
, Issue.1
, pp. 54-56
-
-
Nicolaides, P.1
Liebsch, D.2
Dale, N.3
Leonard, J.4
Surtees, R.5
-
5
-
-
0029992537
-
In vivo nitrogen metabolism in ornithine transcarbamylase deficiency
-
Yudkoff M., Daikhin Y., Nissim I., Jawad A., Wilson J., Batshaw M. In vivo nitrogen metabolism in ornithine transcarbamylase deficiency. J. Clin. Invest. 1996, 98(9):2167-2173. 10.1172/JCI119023.
-
(1996)
J. Clin. Invest.
, vol.98
, Issue.9
, pp. 2167-2173
-
-
Yudkoff, M.1
Daikhin, Y.2
Nissim, I.3
Jawad, A.4
Wilson, J.5
Batshaw, M.6
-
6
-
-
52649162400
-
N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers
-
Tuchman M., Caldovic L., Daikhin Y., Horyn O., Nissim I., Nissim I., et al. N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers. Pediatr. Res. 2008, 64(2):213-217. 10.1203/PDR.0b013e318179454b.
-
(2008)
Pediatr. Res.
, vol.64
, Issue.2
, pp. 213-217
-
-
Tuchman, M.1
Caldovic, L.2
Daikhin, Y.3
Horyn, O.4
Nissim, I.5
Nissim, I.6
-
7
-
-
0031948053
-
In vivo measurement of ureagenesis with stable isotopes
-
Yudkoff M., Daikhin Y., Ye X., Wilson J.M., Batshaw M.L. In vivo measurement of ureagenesis with stable isotopes. J. Inherit. Metab. Dis. 1998, 21(Suppl 1):21-29.
-
(1998)
J. Inherit. Metab. Dis.
, vol.21
, pp. 21-29
-
-
Yudkoff, M.1
Daikhin, Y.2
Ye, X.3
Wilson, J.M.4
Batshaw, M.L.5
-
8
-
-
77950341556
-
Measuring in vivo ureagenesis with stable isotopes
-
Yudkoff M., Ah Mew N., Daikhin Y., Horyn O., Nissim I., Nissim I., et al. Measuring in vivo ureagenesis with stable isotopes. Mol. Genet. Metab. 2010, 100(Suppl 1):S37-S41. 10.1016/j.ymgme.2010.02.017.
-
(2010)
Mol. Genet. Metab.
, vol.100
, pp. S37-S41
-
-
Yudkoff, M.1
Ah Mew, N.2
Daikhin, Y.3
Horyn, O.4
Nissim, I.5
Nissim, I.6
-
9
-
-
77954377501
-
N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia
-
Ah Mew N., McCarter R., Daikhin Y., Nissim I., Yudkoff M., Tuchman M. N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia. Pediatrics 2010, 126(1):e208-e214. 10.1542/peds.2010-0008.
-
(2010)
Pediatrics
, vol.126
, Issue.1
, pp. e208-e214
-
-
Ah Mew, N.1
McCarter, R.2
Daikhin, Y.3
Nissim, I.4
Yudkoff, M.5
Tuchman, M.6
-
10
-
-
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. U. S. A. 2000, 97(14):8021-8026. 10.1073/pnas.140082197.
-
(2000)
Proc. Natl. Acad. Sci. U. S. A.
, vol.97
, Issue.14
, pp. 8021-8026
-
-
Lee, B.1
Yu, H.2
Jahoor, F.3
O'Brien, W.4
Beaudet, A.L.5
Reeds, P.6
-
11
-
-
84893646307
-
Stable isotopes in the diagnosis and treatment of inherited hyperammonemia
-
Mew N.A., Yudkoff M., Tuchman M. Stable isotopes in the diagnosis and treatment of inherited hyperammonemia. J. Pediatr. Biochem. 2014, 4(1):57-63. 10.3233/JPB-140106.
-
(2014)
J. Pediatr. Biochem.
, vol.4
, Issue.1
, pp. 57-63
-
-
Mew, N.A.1
Yudkoff, M.2
Tuchman, M.3
-
12
-
-
70350675568
-
Liver cell transplantation: basic investigations for safe application in infants and small children
-
Meyburg J., Alexandrova K., Barthold M., Kafert-Kasting S., Schneider A.S., Attaran M., et al. Liver cell transplantation: basic investigations for safe application in infants and small children. Cell Transplant. 2009, 18(7):777-786. 10.3727/096368909X470775.
-
(2009)
Cell Transplant.
, vol.18
, Issue.7
, pp. 777-786
-
-
Meyburg, J.1
Alexandrova, K.2
Barthold, M.3
Kafert-Kasting, S.4
Schneider, A.S.5
Attaran, M.6
-
13
-
-
77950340268
-
Liver, liver cell and stem cell transplantation for the treatment of urea cycle defects
-
Meyburg J., Hoffmann G.F. Liver, liver cell and stem cell transplantation for the treatment of urea cycle defects. Mol. Genet. Metab. 2010, 100(Suppl 1):S77-S83. 10.1016/j.ymgme.2010.01.011.
-
(2010)
Mol. Genet. Metab.
, vol.100
, pp. S77-S83
-
-
Meyburg, J.1
Hoffmann, G.F.2
-
14
-
-
34648816450
-
Adult-derived human liver mesenchymal-like cells as a potential progenitor reservoir of hepatocytes?
-
Najimi M., Khuu D.N., Lysy P.A., Jazouli N., Abarca J., Sempoux C., et al. Adult-derived human liver mesenchymal-like cells as a potential progenitor reservoir of hepatocytes?. Cell Transplant. 2007, 16(7):717-728.
-
(2007)
Cell Transplant.
, vol.16
, Issue.7
, pp. 717-728
-
-
Najimi, M.1
Khuu, D.N.2
Lysy, P.A.3
Jazouli, N.4
Abarca, J.5
Sempoux, C.6
-
15
-
-
84859596214
-
Sustained correction of OTC deficiency in spf(ash) mice using optimized self-complementary AAV2/8 vectors
-
Wang L., Wang H., Morizono H., Bell P., Jones D., Lin J., et al. Sustained correction of OTC deficiency in spf(ash) mice using optimized self-complementary AAV2/8 vectors. Gene Ther. 2012, 19(4):404-410. 10.1038/gt.2011.111.
-
(2012)
Gene Ther.
, vol.19
, Issue.4
, pp. 404-410
-
-
Wang, L.1
Wang, H.2
Morizono, H.3
Bell, P.4
Jones, D.5
Lin, J.6
-
16
-
-
0028988101
-
The [13C]acetate breath test accurately reflects gastric emptying of liquids in both liquid and semisolid test meals
-
Braden B., Adams S., Duan L.P., Orth K.H., Maul F.D., Lembcke B., et al. The [13C]acetate breath test accurately reflects gastric emptying of liquids in both liquid and semisolid test meals. Gastroenterology 1995, 108(4):1048-1055.
-
(1995)
Gastroenterology
, vol.108
, Issue.4
, pp. 1048-1055
-
-
Braden, B.1
Adams, S.2
Duan, L.P.3
Orth, K.H.4
Maul, F.D.5
Lembcke, B.6
-
17
-
-
44449161823
-
Retention, fixation, and loss of the [13C] label: a review for the understanding of gastric emptying breath tests
-
Sanaka M., Yamamoto T., Kuyama Y. Retention, fixation, and loss of the [13C] label: a review for the understanding of gastric emptying breath tests. Dig. Dis. Sci. 2008, 53(7):1747-1756. 10.1007/s10620-007-0103-z.
-
(2008)
Dig. Dis. Sci.
, vol.53
, Issue.7
, pp. 1747-1756
-
-
Sanaka, M.1
Yamamoto, T.2
Kuyama, Y.3
-
18
-
-
0037350724
-
Labeled acetate to assess intestinal absorption in critically ill patients
-
Chiolero R.L., Revelly J.P., Berger M.M., Cayeux M.C., Schneiter P., Tappy L. Labeled acetate to assess intestinal absorption in critically ill patients. Crit. Care Med. 2003, 31(3):853-857. 10.1097/01.CCM.0000055373.60390.8F.
-
(2003)
Crit. Care Med.
, vol.31
, Issue.3
, pp. 853-857
-
-
Chiolero, R.L.1
Revelly, J.P.2
Berger, M.M.3
Cayeux, M.C.4
Schneiter, P.5
Tappy, L.6
-
19
-
-
0020518666
-
[13C]bicarbonate kinetics in humans: intra- vs. interindividual variations
-
Irving C.S., Wong W.W., Shulman R.J., Smith E.O., Klein P.D. [13C]bicarbonate kinetics in humans: intra- vs. interindividual variations. Am. J. Physiol. 1983, 245(2):R190-R202.
-
(1983)
Am. J. Physiol.
, vol.245
, Issue.2
, pp. R190-R202
-
-
Irving, C.S.1
Wong, W.W.2
Shulman, R.J.3
Smith, E.O.4
Klein, P.D.5
-
20
-
-
0025194501
-
2 during the infusion of C-1- vs C-2-labeled acetate: implications for tracer studies of substrate oxidation
-
2 during the infusion of C-1- vs C-2-labeled acetate: implications for tracer studies of substrate oxidation. Am. J. Clin. Nutr. 1990, 51(2):248-252.
-
(1990)
Am. J. Clin. Nutr.
, vol.51
, Issue.2
, pp. 248-252
-
-
Wolfe, R.R.1
Jahoor, F.2
-
22
-
-
0025572712
-
2 stores and dynamics in children and adults
-
2 stores and dynamics in children and adults. J. Appl. Physiol. 1990, 69(5):1754-1760.
-
(1990)
J. Appl. Physiol.
, vol.69
, Issue.5
, pp. 1754-1760
-
-
Armon, Y.1
Cooper, D.M.2
Springer, C.3
Barstow, T.J.4
Rahimizadeh, H.5
Landaw, E.6
-
23
-
-
0031217922
-
High-precision continuous-flow isotope ratio mass spectrometry
-
Brenna J.T., Corso T.N., Tobias H.J., Caimi R.J. High-precision continuous-flow isotope ratio mass spectrometry. Mass Spectrom. Rev. 1997, 16(5):227-258. 10.1002/(SICI)1098-2787(1997)16:5<227::AID-MAS1>3.0.CO;2-J.
-
(1997)
Mass Spectrom. Rev.
, vol.16
, Issue.5
, pp. 227-258
-
-
Brenna, J.T.1
Corso, T.N.2
Tobias, H.J.3
Caimi, R.J.4
-
24
-
-
0032729353
-
Correction of ureagenesis after gene transfer in an animal model and after liver transplantation in humans with ornithine transcarbamylase deficiency
-
Batshaw M.L., Robinson M.B., Ye X., Pabin C., Daikhin Y., Burton B.K., et al. Correction of ureagenesis after gene transfer in an animal model and after liver transplantation in humans with ornithine transcarbamylase deficiency. Pediatr. Res. 1999, 46(5):588-593. 10.1203/00006450-199911000-00016.
-
(1999)
Pediatr. Res.
, vol.46
, Issue.5
, pp. 588-593
-
-
Batshaw, M.L.1
Robinson, M.B.2
Ye, X.3
Pabin, C.4
Daikhin, Y.5
Burton, B.K.6
-
25
-
-
84908510356
-
Members of the urea cycle disorders C. A longitudinal study of urea cycle disorders
-
Batshaw M.L., Tuchman M., Summar M., Seminara J. Members of the urea cycle disorders C. A longitudinal study of urea cycle disorders. Mol. Genet. Metab. 2014, 113(1-2):127-130. 10.1016/j.ymgme.2014.08.001.
-
(2014)
Mol. Genet. Metab.
, vol.113
, Issue.1-2
, pp. 127-130
-
-
Batshaw, M.L.1
Tuchman, M.2
Summar, M.3
Seminara, J.4
-
26
-
-
77956647974
-
Glutamine as a mediator of ammonia neurotoxicity: a critical appraisal
-
Albrecht J., Zielinska M., Norenberg M.D. Glutamine as a mediator of ammonia neurotoxicity: a critical appraisal. Biochem. Pharmacol. 2010, 80(9):1303-1308. 10.1016/j.bcp.2010.07.024.
-
(2010)
Biochem. Pharmacol.
, vol.80
, Issue.9
, pp. 1303-1308
-
-
Albrecht, J.1
Zielinska, M.2
Norenberg, M.D.3
-
27
-
-
0141957403
-
Ammonia urea production and pH regulation
-
Second Edition Oxford University Press, Oxford, J. Bircher, J.P. Benhamou, M. Rizetto, J. Rodes (Eds.)
-
Häussinger D. Ammonia urea production and pH regulation. Oxford Textbook of Hepatology 1998, 325-335. Second Edition Oxford University Press, Oxford. J. Bircher, J.P. Benhamou, M. Rizetto, J. Rodes (Eds.).
-
(1998)
Oxford Textbook of Hepatology
, pp. 325-335
-
-
Häussinger, D.1
-
28
-
-
0028337339
-
Seven new mutations in the human ornithine transcarbamylase gene
-
Tuchman M., Plante R.J., McCann M.T., Qureshi A.A. Seven new mutations in the human ornithine transcarbamylase gene. Hum. Mutat. 1994, 4(1):57-60. 10.1002/humu.1380040109.
-
(1994)
Hum. Mutat.
, vol.4
, Issue.1
, pp. 57-60
-
-
Tuchman, M.1
Plante, R.J.2
McCann, M.T.3
Qureshi, A.A.4
|