-
1
-
-
0029690198
-
Urea cycle disorders: Diagnosis, pathophysiology, therapy
-
Barness LA, DeVivo DC, Kaback MM, Morrow G, Oski FA, Rudolph AM (eds) Mosby, Chicago
-
Brusilow S, Maestri NE 1996 Urea cycle disorders: diagnosis, pathophysiology, therapy. In: Barness LA, DeVivo DC, Kaback MM, Morrow G, Oski FA, Rudolph AM (eds) Advances in Pediatrics, Vol 43. Mosby, Chicago, p 127
-
(1996)
Advances in Pediatrics
, vol.43
, pp. 127
-
-
Brusilow, S.1
Maestri, N.E.2
-
2
-
-
0025907503
-
Estimated frequency of urea cycle enzy-mopathies in Japan
-
Nagata N, Matsuda I, Oyanagi K 1991 Estimated frequency of urea cycle enzy-mopathies in Japan. Am J Med Genet 39:228-229
-
(1991)
Am J Med Genet
, vol.39
, pp. 228-229
-
-
Nagata, N.1
Matsuda, I.2
Oyanagi, K.3
-
3
-
-
0033506343
-
Neonatal onset ornithine transcarbamy-lase deficiency: A retrospective analysis
-
Maestri NE, Clissold D, Brusilow SW 1999 Neonatal onset ornithine transcarbamy-lase deficiency: a retrospective analysis. J Pediatr 134:268-272
-
(1999)
J Pediatr
, vol.134
, pp. 268-272
-
-
Maestri, N.E.1
Clissold, D.2
Brusilow, S.W.3
-
4
-
-
0021187612
-
Neurologic outcome in children with inborn errors of urea synthesis
-
Msall M, Batshaw ML, Suss R, Brusilow SW, Mellits ED 1984 Neurologic outcome in children with inborn errors of urea synthesis. N Engl J Med 310:1500-1505
-
(1984)
N Engl J Med
, vol.310
, pp. 1500-1505
-
-
Msall, M.1
Batshaw, M.L.2
Suss, R.3
Brusilow, S.W.4
Mellits, E.D.5
-
6
-
-
0020057470
-
Treatment of inborn errors of urea synthesis: Activation of alternate pathways of waste nitrogen synthesis and excretion
-
Batshaw ML, Brusilow SW, Waber L, Blom W, Brubakk AM, Burton BK, Cann HM, Kerr D, Mamunes P, Matalon R, Myerberg D, Schafer IA 1982 Treatment of inborn errors of urea synthesis: activation of alternate pathways of waste nitrogen synthesis and excretion. N Engl J Med 306:1387-1392
-
(1982)
N Engl J Med
, vol.306
, pp. 1387-1392
-
-
Batshaw, M.L.1
Brusilow, S.W.2
Waber, L.3
Blom, W.4
Brubakk, A.M.5
Burton, B.K.6
Cann, H.M.7
Kerr, D.8
Mamunes, P.9
Matalon, R.10
Myerberg, D.11
Schafer, I.A.12
-
7
-
-
0022642207
-
The risk of serious illness in carriers of ornithine transcarbamylase deficiency
-
Batshaw ML, Msall M, Trojak J 1986 The risk of serious illness in carriers of ornithine transcarbamylase deficiency. J Pediatr 108:236-241
-
(1986)
J Pediatr
, vol.108
, pp. 236-241
-
-
Batshaw, M.L.1
Msall, M.2
Trojak, J.3
-
8
-
-
0036461110
-
Neurological outcome of patients with ornithine carbamoyltransferase deficiency
-
Nicolaides P, Leibsch D, Dale N, Surtees R 2002 Neurological outcome of patients with ornithine carbamoyltransferase deficiency. Arch Dis Child 86:54-56
-
(2002)
Arch Dis Child
, vol.86
, pp. 54-56
-
-
Nicolaides, P.1
Leibsch, D.2
Dale, N.3
Surtees, R.4
-
10
-
-
0018903701
-
Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency
-
Batshaw ML, Roan Y, Rosenberg LA, Brusilow SW 1980 Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency. N Engl J Med 302:482-485
-
(1980)
N Engl J Med
, vol.302
, pp. 482-485
-
-
Batshaw, M.L.1
Roan, Y.2
Rosenberg, L.A.3
Brusilow, S.W.4
-
11
-
-
0347949709
-
Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamy-lase deficiency
-
Gyato K, Wray J, Huang ZJ, Yudkoff M, Batshaw ML 2004 Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamy-lase deficiency. Ann Neurol 55:80-86
-
(2004)
Ann Neurol
, vol.55
, pp. 80-86
-
-
Gyato, K.1
Wray, J.2
Huang, Z.J.3
Yudkoff, M.4
Batshaw, M.L.5
-
13
-
-
0018597819
-
New pathways of waste nitrogen excretion in inborn errors of urea synthesis
-
Brusilow SW, Batshaw ML, Valle D 1979 New pathways of waste nitrogen excretion in inborn errors of urea synthesis. Lancet 2:452-454
-
(1979)
Lancet
, vol.2
, pp. 452-454
-
-
Brusilow, S.W.1
Batshaw, M.L.2
Valle, D.3
-
14
-
-
0035145334
-
Alternative pathway therapy for urea cycle disorders: Twenty years later
-
Batshaw ML, MacArthur RB, Tuchman M 2001 Alternative pathway therapy for urea cycle disorders: twenty years later. J Pediatr 138:S46-S55
-
(2001)
J Pediatr
, vol.138
-
-
Batshaw, M.L.1
MacArthur, R.B.2
Tuchman, M.3
-
15
-
-
0031903607
-
Liver transplantation for the treatment of urea cycle disorders
-
Whitington PF, Alonso EM, Boyle JT, Molleston JP, Rosenthal P, Emond JC, Millis JM 1998 Liver transplantation for the treatment of urea cycle disorders. J Inherit Metab Dis 21:112-118
-
(1998)
J Inherit Metab Dis
, vol.21
, pp. 112-118
-
-
Whitington, P.F.1
Alonso, E.M.2
Boyle, J.T.3
Molleston, J.P.4
Rosenthal, P.5
Emond, J.C.6
Millis, J.M.7
-
16
-
-
37449022958
-
Nutritional management of patients with urea cycle disorders
-
Singh RH 2007 Nutritional management of patients with urea cycle disorders. J Inherit Metab Dis 30:880-887
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 880-887
-
-
Singh, R.H.1
-
18
-
-
0036164461
-
Mutations and polymorphisms in the human ornithine transcarbamylase gene
-
Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch MG 2002 Mutations and polymorphisms in the human ornithine transcarbamylase gene. Hum Mutat 19:93-107
-
(2002)
Hum Mutat
, vol.19
, pp. 93-107
-
-
Tuchman, M.1
Jaleel, N.2
Morizono, H.3
Sheehy, L.4
Lynch, M.G.5
-
22
-
-
0012052534
-
-
Harcourt Assessment, Inc, San Antonio, TX
-
Harrison PL, Oakland T 2003 Adaptive Behavior Assessment System, 2nd Ed. Harcourt Assessment, Inc, San Antonio, TX
-
(2003)
Adaptive Behavior Assessment System, 2nd Ed.
-
-
Harrison, P.L.1
Oakland, T.2
-
23
-
-
0003905405
-
-
Psychological Assessment Resources, Inc, Lutz, FL
-
Gioia GA, Isquith PK, Guy SC, Kenworthy L 2000 Behavior Rating Inventory of Executive Function. Psychological Assessment Resources, Inc, Lutz, FL
-
(2000)
Behavior Rating Inventory of Executive Function
-
-
Gioia, G.A.1
Isquith, P.K.2
Guy, S.C.3
Kenworthy, L.4
-
25
-
-
33644613511
-
Poor predictive validity of the Bayley Scales of Infant Development for cognitive function of extremely low birth weight children at school age
-
Hack M, Taylor HG, Drotar D Schluchter M, Cartar L, Wilson-Costello D, Klein N, Friedman H, Mercuri-Minich N, Morrow M 2005 Poor predictive validity of the Bayley Scales of Infant Development for cognitive function of extremely low birth weight children at school age. Pediatrics 116:333-341
-
(2005)
Pediatrics
, vol.116
, pp. 333-341
-
-
Hack, M.1
Taylor, H.G.2
Drotar, D.3
Schluchter, M.4
Cartar, L.5
Wilson-Costello, D.6
Klein, N.7
Friedman, H.8
Mercuri-Minich, N.9
Morrow, M.10
-
26
-
-
16544378525
-
Prediction of functioning from infancy to early childhood: Implications for pediatric psychology
-
Aylward GP 2004 Prediction of functioning from infancy to early childhood: implications for pediatric psychology. J Pediatr Psychol 29:555-564
-
(2004)
J Pediatr Psychol
, vol.29
, pp. 555-564
-
-
Aylward, G.P.1
-
27
-
-
33746688441
-
The diagnosis of mental retardation in infancy: A follow-up study
-
Illingworth RS, Birch LB 1959 The diagnosis of mental retardation in infancy: a follow-up study. Arch Dis Child 34:269-273
-
(1959)
Arch Dis Child
, vol.34
, pp. 269-273
-
-
Illingworth, R.S.1
Birch, L.B.2
-
28
-
-
33644869771
-
The psychosocial well-being of children with chronic disease, their parents, and siblings: An overview of the evidence base
-
Barlow JH, Ellard DR 2006 The psychosocial well-being of children with chronic disease, their parents, and siblings: an overview of the evidence base. Child Care Health Dev 32:19-31
-
(2006)
Child Care Health Dev
, vol.32
, pp. 19-31
-
-
Barlow, J.H.1
Ellard, D.R.2
|