-
1
-
-
0036304967
-
Clinical approach to inherited metabolic disorders in neonates: An overview
-
DOI 10.1053/siny.2001.0083
-
Saudubray JM, Nassogne MC, de Lonlay P., Touati G. Clinical approach to inherited metabolic disorders in neonates: an overview. Semin Neonatol. 2002 ; 7: 3-15. (Pubitemid 34742215)
-
(2002)
Seminars in Neonatology
, vol.7
, Issue.1
, pp. 3-15
-
-
Saudubray, J.M.1
Nassogne, M.C.2
De Lonlay, P.3
Touati, G.4
-
2
-
-
0034788469
-
Nonketotic hyperglycinemia (Glycine Encephalopathy): Laboratory diagnosis
-
DOI 10.1006/mgme.2001.3224
-
Applegarth DA, Toone JR Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. Mol Genet Metab. 2001 ; 74: 139-146. (Pubitemid 32955155)
-
(2001)
Molecular Genetics and Metabolism
, vol.74
, Issue.1-2
, pp. 139-146
-
-
Applegarth, D.A.1
Toone, J.R.2
-
3
-
-
0036772660
-
Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia)
-
DOI 10.1017/S0012162201002808
-
Korman SH, Gutman A. Pitfalls in the diagnosis of glycine encephalopathy (nonketotic hyperglycinemia). Dev Med Child Neurol. 2002 ; 44: 712-720. (Pubitemid 35230034)
-
(2002)
Developmental Medicine and Child Neurology
, vol.44
, Issue.10
, pp. 712-720
-
-
Korman, S.H.1
Gutman, A.2
-
4
-
-
0024566027
-
Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations
-
Press GA, Barshop BA, Haas RH, et al. Abnormalities of the brain in nonketotic hyperglycinemia: MR manifestations. AJNR Am J Neuroradiol. 1989 ; 10: 315-321. (Pubitemid 19082621)
-
(1989)
American Journal of Neuroradiology
, vol.10
, Issue.2
, pp. 315-321
-
-
Press, G.A.1
Barshop, B.A.2
Haas, R.H.3
Nyhan, W.L.4
Glass, R.F.5
Hesselink, J.R.6
-
5
-
-
0024253535
-
Hyperamino-acidaemia and hyperammonaemia in epileptic children treated with valproic acid
-
DOI 10.1007/BF00441418
-
Ilinuma K., Hayasaka K., Narisawa K., et al. Hyperaminoacidaemia and hyperammonaemia in epileptic children treated with valproic acid. Eur J Paediatr. 1988 ; 148: 267-269. (Pubitemid 19016152)
-
(1988)
European Journal of Pediatrics
, vol.148
, Issue.3
, pp. 267-269
-
-
Iinuma, K.1
Hayasaka, K.2
Narisawa, K.3
Tada, K.4
Hori, K.5
-
6
-
-
0023259537
-
Non-ketotic hyperglycinaemia: Clinical and biochemical aspects
-
DOI 10.1007/BF00716464
-
Tada K., Hayasaka K. Non-ketotic hyperglycinaemia: clinical and biochemical aspects. Eur J Pediatr. 1987 ; 146: 221-227. (Pubitemid 17066916)
-
(1987)
European Journal of Pediatrics
, vol.146
, Issue.3
, pp. 221-227
-
-
Tada, K.1
Hayasaka, K.2
-
8
-
-
0016732733
-
Nonketotic hyperglycinemia. Glycine accumulation due to absence of glycine cleavage in the brain
-
Perry TL, Urquhart N., MacLean J., et al. Nonketotic hyperglycinemia. Glycine accumulation due to absence of glycine cleavage in the brain. N Engl J Med. 1975 ; 292: 1269-1273.
-
(1975)
N Engl J Med
, vol.292
, pp. 1269-1273
-
-
Perry, T.L.1
Urquhart, N.2
MacLean, J.3
-
9
-
-
0035145555
-
Excitatory amino acid concentrations in ventricular cerebrospinal fluid after severe traumatic brain injury in infants and children: The role of child abuse
-
DOI 10.1067/mpd.2001.110979
-
Ruppel RA, Kochanek PM, Adelson DP, et al. Excitatory amino acid concentrations in ventricular cerebrospinal fluid after severe traumatic brain injury in infants and children: the role of child abuse. J Pediatr. 2001 ; 138: 18-25. (Pubitemid 32097136)
-
(2001)
Journal of Pediatrics
, vol.138
, Issue.1
, pp. 18-25
-
-
Ruppel, R.A.1
Kochanek, P.M.2
Adelson, P.D.3
Rose, M.E.4
Wisniewski, S.R.5
Bell, M.J.6
Clark, R.S.B.7
Marion, D.W.8
Graham, S.H.9
-
10
-
-
0032857114
-
Glycine and other neurotransmitter amino acids in cerebrospinal fluid in perinatal asphyxia and neonatal hypoxic-ischaemic encephalopathy
-
DOI 10.1080/08035259950168225
-
Roldan A., Figueras-Aloy J., Deulofeu R., Jimenez R. Glycine and other neurotransmitter amino acids in cerebrospinal fluid in perinatal asphyxia and neonatal hypoxic-ischemic encephalopathy. Acta Paediatr. 1999 ; 88: 1137-1141. (Pubitemid 29489173)
-
(1999)
Acta Paediatrica, International Journal of Paediatrics
, vol.88
, Issue.10
, pp. 1137-1141
-
-
Roldan, A.1
Figueras-Aloy, J.2
Deulofeu, R.3
Jimenez, R.4
-
11
-
-
0032732146
-
Increased cerebrospinal fluid glycine: A biochemical marker for a leukoencephalopathy with vanishing white matter
-
van der Knaap MS, Wevers RA, Kure S., et al. Increased cerebrospinal fluid glycine: a biochemical marker for a leukoencephalopathy with vanishing white matter. J Child Neurol. 1999 ; 14: 728-731.
-
(1999)
J Child Neurol
, vol.14
, pp. 728-731
-
-
Van Der Knaap, M.S.1
Wevers, R.A.2
Kure, S.3
-
12
-
-
0003153273
-
A Newly Recognized Inherited Neurological Disease with Carbohydrate-deficient Secretory Glycoproteins
-
Wetterberg L., ed. New York: Macmillan
-
Jaeken J., Stibler H. A newly recognized inherited neurological disease with carbohydrate-deficient secretory glycoproteins. In: Wetterberg L., ed. Genetics of Neuropsychiatric Diseases. Wenner-Gren Center International Symposium Series. New York: Macmillan ; 1989: 69-80.
-
(1989)
Genetics of Neuropsychiatric Diseases. Wenner-Gren Center International Symposium Series
, pp. 69-80
-
-
Jaeken, J.1
Stibler, H.2
-
13
-
-
0034059639
-
Transient nonketotic hyperglycinemia in an asphyxiated patient with pyridoxine-dependent seizures
-
DOI 10.1016/S0887-8994(99)00138-1, PII S0887899499001381
-
Maeda T., Inutsuka M., Goto K., Izumi T. Transient nonketotic hyperglycinemia in an asphyxiated patient with pyridoxinedependent seizures. Pediatr Neurol. 2000 ; 22: 225-227. (Pubitemid 30151166)
-
(2000)
Pediatric Neurology
, vol.22
, Issue.3
, pp. 225-227
-
-
Maeda, T.1
Inutsuka, M.2
Goto, K.3
Izumi, T.4
-
14
-
-
0024386406
-
Transient nonketotic hyperglycinemia in neonates
-
DOI 10.1016/S0022-3476(89)80453-6
-
Luder AS, Davidson A., Gooman SI, Greene CL Transient nonketotic hyperglycinemia in neonates. J Pediatr. 1989 ; 114: 1013-1015. (Pubitemid 19151765)
-
(1989)
Journal of Pediatrics
, vol.114
, Issue.6
, pp. 1013-1015
-
-
Luder, A.S.1
Davidson, A.2
Goodman, S.I.3
Greene, C.L.4
-
15
-
-
0037308991
-
Transient nonketotic hyperglycinemia: Two case reports and literature review
-
DOI 10.1016/S0887-8994(02)00501-5
-
Aliefendioglu D., Aslan AT, Coskun T., et al. Transient nonketotic hyperglycinemia: two case reports and literature review. Pediatr Neurol. 2003 ; 28: 151-155. (Pubitemid 36434165)
-
(2003)
Pediatric Neurology
, vol.28
, Issue.2
, pp. 151-155
-
-
Aliefendioglu, D.1
Aslan, A.T.2
Coskun, T.3
Dursun, A.4
Cakmak, F.N.5
Kesimer, M.6
-
16
-
-
38349025866
-
Practical difficulties in the diagnosis of transient non-ketotic hyperglycinaemia
-
Lang TF, Parr JR, Matthews EE, et al. Practical difficulties in the diagnosis of transient non-ketotic hyperglycinaemia. Dev Med Child Neurol. 2008 ; 50: 157-159.
-
(2008)
Dev Med Child Neurol
, vol.50
, pp. 157-159
-
-
Lang, T.F.1
Parr, J.R.2
Matthews, E.E.3
-
17
-
-
45849107549
-
The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a 'ketotic hyperglycinaemia'
-
Scholl-Burgi S., Korman SH, Applegarth DA, et al. The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a 'ketotic hyperglycinaemia'. J Inherit Metab Dis. 2008 ; 31: 395-398.
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 395-398
-
-
Scholl-Burgi, S.1
Korman, S.H.2
Applegarth, D.A.3
-
18
-
-
33846189373
-
Transient nonketotic hyperglycinemia and defective serotonin metabolism in a child with neonatal seizures
-
DOI 10.1177/08830738060210101001
-
Lin FY, Gascon GG, Hyland K., et al. Transient nonketotic hyperglycinemia and defective serotonin metabolism in a child with neonatal seizures. J Child Neurol. 2006 ; 21: 900-903. (Pubitemid 46099282)
-
(2006)
Journal of Child Neurology
, vol.21
, Issue.10
, pp. 900-903
-
-
Lin, F.-Y.1
Gascon, G.G.2
Hyland, K.3
Chugani, H.4
Chugani, D.5
-
19
-
-
43449086105
-
Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia
-
Boneh A., Allan S., Mendelson D., et al. Clinical, ethical and legal considerations in the treatment of newborns with non-ketotic hyperglycinaemia. Mol Genet Metab. 2008 ; 94: 143-147.
-
(2008)
Mol Genet Metab
, vol.94
, pp. 143-147
-
-
Boneh, A.1
Allan, S.2
Mendelson, D.3
-
20
-
-
33645979933
-
Potentiation of the NMDA receptor-mediated responses through the activation of the glycine site by microglia secreting soluble factors
-
Hayashi Y., Ishibashi H., Hashimoto K., Nakanishi H. Potentiation of the NMDA receptor-mediated responses through the activation of the glycine site by microglia secreting soluble factors. Glia. 2006 ; 53: 660-668.
-
(2006)
Glia
, vol.53
, pp. 660-668
-
-
Hayashi, Y.1
Ishibashi, H.2
Hashimoto, K.3
Nakanishi, H.4
-
21
-
-
0023091647
-
Glycine potentiates the NMDA response in cultured mouse brain neurons
-
DOI 10.1038/325529a0
-
Johnson JW, Ascher P. Glycine potentiates the NMDA response in cultured mouse brain neurons. Nature. 1987 ; 325: 529-531. (Pubitemid 17056733)
-
(1987)
Nature
, vol.325
, Issue.6104
, pp. 529-531
-
-
Johnson, J.W.1
Ascher, P.2
-
22
-
-
0028762647
-
Excitatory amino acids as a final common pathway for neurologic disorders
-
Lipton SA, Rosenberg PA Excitatory amino acids as a final common pathway for neurologic disorders. N Engl J Med. 1994 ; 330: 613-622.
-
(1994)
N Engl J Med
, vol.330
, pp. 613-622
-
-
Lipton, S.A.1
Rosenberg, P.A.2
|