-
1
-
-
0034788469
-
Nonketotic Hyperglycinemia (glycine encephalopathy): laboratory diagnosis
-
Applegarth D.A., and Toone J.R. Nonketotic Hyperglycinemia (glycine encephalopathy): laboratory diagnosis. Mol. Genet. Metab. 74 (2001) 139-146
-
(2001)
Mol. Genet. Metab.
, vol.74
, pp. 139-146
-
-
Applegarth, D.A.1
Toone, J.R.2
-
2
-
-
0021015809
-
Nonketotic Hyperglycinemia: two patients with primary defects of P-protein and T-protein, respectively, in the glycine cleavage system
-
Hayasaka K., Tada K., Kikuchi G., Winter S., and Nyhan W.L. Nonketotic Hyperglycinemia: two patients with primary defects of P-protein and T-protein, respectively, in the glycine cleavage system. Pediatr. Res. 17 (1983) 967-970
-
(1983)
Pediatr. Res.
, vol.17
, pp. 967-970
-
-
Hayasaka, K.1
Tada, K.2
Kikuchi, G.3
Winter, S.4
Nyhan, W.L.5
-
3
-
-
8844270815
-
Natural history of Nonketotic Hyperglycinemia in 65 patients
-
Hoover-Fong J.E., Shah S., Van Hove J.L.K., Applegarth D., Toone J., and Hamosh A. Natural history of Nonketotic Hyperglycinemia in 65 patients. Neurology 63 (2004) 1847-1853
-
(2004)
Neurology
, vol.63
, pp. 1847-1853
-
-
Hoover-Fong, J.E.1
Shah, S.2
Van Hove, J.L.K.3
Applegarth, D.4
Toone, J.5
Hamosh, A.6
-
4
-
-
32044454904
-
Treatment from birth of Nonketotic Hyperglycinemia due to a novel GLDC mutation
-
Korman S.H., Wexler I.D., Gutman A., Rolland M.O., Kanno J., and Kure S. Treatment from birth of Nonketotic Hyperglycinemia due to a novel GLDC mutation. Ann. Neurol. 59 2 (2006) 411-415
-
(2006)
Ann. Neurol.
, vol.59
, Issue.2
, pp. 411-415
-
-
Korman, S.H.1
Wexler, I.D.2
Gutman, A.3
Rolland, M.O.4
Kanno, J.5
Kure, S.6
-
5
-
-
0000086555
-
Nonketotic Hyperglycinemia
-
Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York
-
Hamosh A., and Johnston M. Nonketotic Hyperglycinemia. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease. eighth ed. (2001), McGraw-Hill, New York 2065-2076
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease. eighth ed.
, pp. 2065-2076
-
-
Hamosh, A.1
Johnston, M.2
-
6
-
-
0028007602
-
Failure of early dextromethorphan and sodium benzoate therapy in an infant with Nonketotic Hyperglycinemia
-
Zammarchi E., Donati M.A., Ciani F., Pasiquini E., Pela I., and Fiorini P. Failure of early dextromethorphan and sodium benzoate therapy in an infant with Nonketotic Hyperglycinemia. Neuropaediatrics 25 (1994) 274-276
-
(1994)
Neuropaediatrics
, vol.25
, pp. 274-276
-
-
Zammarchi, E.1
Donati, M.A.2
Ciani, F.3
Pasiquini, E.4
Pela, I.5
Fiorini, P.6
-
8
-
-
0037685217
-
Screening newborns for inborn errors of metabolism by tandem mass spectrometry
-
Wilcken B., Wiley V., Hammond J., and Carpenter K. Screening newborns for inborn errors of metabolism by tandem mass spectrometry. NEJM 348 (2003) 2301-2312
-
(2003)
NEJM
, vol.348
, pp. 2301-2312
-
-
Wilcken, B.1
Wiley, V.2
Hammond, J.3
Carpenter, K.4
-
9
-
-
34047102049
-
-
Maternal and Child Health Bureau, Newborn screening: toward a uniform screening panel and system. , 2006 (accessed 27.11.06.).
-
-
-
-
10
-
-
0001955079
-
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW
-
Wiley V., Carpenter K., and Wilcken B. Newborn screening with tandem mass spectrometry: 12 months' experience in NSW. Australia Acta. Paediatr. Suppl. 432 (1999) 48-51
-
(1999)
Australia Acta. Paediatr. Suppl.
, vol.432
, pp. 48-51
-
-
Wiley, V.1
Carpenter, K.2
Wilcken, B.3
|