MeSH Review:
Hyperglycinemia, Nonketotic
Kure,
Kojima,
Kudo,
Kanno,
Aoki,
Suzuki,
Shinka,
Sakata,
Narisawa,
Matsubara,
Nakai,
Nakagawa,
Maoka,
Masui,
Kuramitsu,
Kamiya,
Korman,
Wexler,
Gutman,
Rolland,
Kanno,
Kure,
Kure,
Kato,
Dinopoulos,
Gail,
DeGrauw,
Christodoulou,
Bzduch,
Kalmanchey,
Fekete,
Trojovsky,
Plecko,
Breningstall,
Tohyama,
Aoki,
Matsubara,
Korman,
Boneh,
Ichinohe,
Kojima,
Sato,
Ergaz,
Gomori,
Gutman,
Kure,
- On the clinical significance of the plasma alpha-amino-n-butyric acid:leucine ratio. Yudkoff, M., Blazer-Yost, B., Cohn, R., Segal, S. Am. J. Clin. Nutr. (1979)
- Vigabatrin caused rapidly progressive deterioration in two cases with early myoclonic encephalopathy associated with nonketotic hyperglycinemia. Tekgul, H., Serdaroğlu, G., Karapinar, B., Polat, M., Yurtsever, S., Tosun, A., Coker, M., Gokben, S. J. Child Neurol. (2006)
- Review of Metabolic Screening Program of Children's Hospital, Vancouver, British Columbia. 1971--1977. Wong, L.T., Hardwick, D.F., Applegarth, D.A., Davidson, A.G. Clin. Biochem. (1979)
- Nonketotic hyperglycinemia. Glycine accumulation due to absence of glycerine cleavage in brain. Perry, T.L., Urquhart, N., MacLean, J., Evans, M.E., Hansen, S., Davidson, G.F., Applegarth, D.A., MacLeod, P.J., Lock, J.E. N. Engl. J. Med. (1975)
- Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia. Kure, S., Takayanagi, M., Narisawa, K., Tada, K., Leisti, J. J. Clin. Invest. (1992)
- Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein. Hiraga, K., Kochi, H., Hayasaka, K., Kikuchi, G., Nyhan, W.L. J. Clin. Invest. (1981)
- Structure of P-protein of the glycine cleavage system: implications for nonketotic hyperglycinemia. Nakai, T., Nakagawa, N., Maoka, N., Masui, R., Kuramitsu, S., Kamiya, N. EMBO J. (2005)
- Nonketotic hyperglycinemia: pathophysiological role of NMDA-type excitatory amino acid receptors. McDonald, J.W., Johnston, M.V. Ann. Neurol. (1990)
- Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation. Korman, S.H., Boneh, A., Ichinohe, A., Kojima, K., Sato, K., Ergaz, Z., Gomori, J.M., Gutman, A., Kure, S. Ann. Neurol. (2004)
- Amino acid neurotransmission and initiation of puberty: evidence from nonketotic hyperglycinemia in a female infant and gonadotropin-releasing hormone secretion by rat hypothalamic explants. Bourguignon, J.P., Jaeken, J., Gerard, A., de Zegher, F. J. Clin. Endocrinol. Metab. (1997)
- Measurement of lactate in cerebrospinal fluid in investigation of inherited metabolic disease. Hutchesson, A., Preece, M.A., Gray, G., Green, A. Clin. Chem. (1997)
- Effect of valine on propionate metabolism in control and hyperglycinemic fibroblasts and in rat liver. Revsin, B., Lebowitz, J., Morrow, G. Pediatr. Res. (1977)
- Valproate in nonketotic hyperglycinemia. MacDermot, K., Nelson, W., Weinberg, J.A., Schulman, J.D. Pediatrics (1980)
- Crystal structure of T-protein of the glycine cleavage system. Cofactor binding, insights into H-protein recognition, and molecular basis for understanding nonketotic hyperglycinemia. Lee, H.H., Kim, d.o. .J., Ahn, H.J., Ha, J.Y., Suh, S.W. J. Biol. Chem. (2004)
- Glycine transport by human diploid fibroblasts--absence of a defect in cells from patients with nonketotic hyperglycinemia. Kelly, J.C., Otto, E.F., Hillman, R.E. Pediatr. Res. (1979)
- Clinical and neurophysiological findings in heterozygotes for nonketotic hyperglycinemia. von Wendt, L., Alanko, H., Sorri, M., Toivakka, E., Saukkonen, A.L., Similä, S. Clin. Genet. (1981)
- Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia. Kure, S., Kojima, K., Kudo, T., Kanno, K., Aoki, Y., Suzuki, Y., Shinka, T., Sakata, Y., Narisawa, K., Matsubara, Y. J. Hum. Genet. (2001)
- Atypical nonketotic hyperglycinemia with normal cerebrospinal fluid to plasma glycine ratio. Jackson, A.H., Applegarth, D.A., Toone, J.R., Kure, S., Levy, H.L. J. Child Neurol. (1999)
- Dysplasia of the corpus callosum in identical twins with nonketotic hyperglycinemia. Rogers, T., al-Rayess, M., O'Shea, P., Ambler, M.W. Pediatric pathology / affiliated with the International Paediatric Pathology Association. (1991)
- Nonketotic hyperglycinemia. Clinical, biochemical and therapeutic aspects. Kølvraa, S., Brandt, N.J., Christensen, E. Acta paediatrica Scandinavica. (1979)
- 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., Kure, S. Ann. Neurol. (2006)
- Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. Kure, S., Kato, K., Dinopoulos, A., Gail, C., DeGrauw, T.J., Christodoulou, J., Bzduch, V., Kalmanchey, R., Fekete, G., Trojovsky, A., Plecko, B., Breningstall, G., Tohyama, J., Aoki, Y., Matsubara, Y. Hum. Mutat. (2006)
- Glycine cleavage system in neurogenic regions. Ichinohe, A., Kure, S., Mikawa, S., Ueki, T., Kojima, K., Fujiwara, K., Iinuma, K., Matsubara, Y., Sato, K. Eur. J. Neurosci. (2004)
- Epileptic spasms preceded by partial seizures with a close temporal association. Kubota, T., Aso, K., Negoro, T., Okumura, A., Natsume, J., Takada, H., Itomi, K., Watanabe, K., Yamamoto, N. Epilepsia (1999)