(en) Kure S, Takayanagi M, Narisawa K, et al., «Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia», J. Clin. Invest., vol.90, no1, , p.160–4 (PMID1634607, PMCID443076, DOI10.1172/JCI115831)
(en) Sakakibara T, Koyata H, Ishiguro Y, et al., «One of the two genomic copies of the glycine decarboxylase cDNA has been deleted at a 5' region in a patient with nonketotic hyperglycinemia», Biochem. Biophys. Res. Commun., vol.173, no3, , p.801–6 (PMID2268343, DOI10.1016/S0006-291X(05)80858-7)
(en) Burton BK, Pettenati MJ, Block SM, et al., «Nonketotic hyperglycinemia in a patient with the 9p- syndrome», Am. J. Med. Genet., vol.32, no4, , p.504–5 (PMID2773994, DOI10.1002/ajmg.1320320416)
(en) Hayasaka K, Kochi H, Hiraga K, Kikuchi G, «Purification and properties of glycine decarboxylase, a component of the glycine cleavage system, from rat liver mitochondria and immunochemical comparison of this enzyme from various sources», J. Biochem., vol.88, no4, , p.1193–9 (PMID6778858)
(en) Hiraga K, Kochi H, Hayasaka K, et al., «Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein», J. Clin. Invest., vol.68, no2, , p.525–34 (PMID6790577, PMCID370827, DOI10.1172/JCI110284)
(en) Takayanagi M, Kure S, Sakata Y, et al., «Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia», Hum. Genet., vol.106, no3, , p.298–305 (PMID10798358, DOI10.1007/s004390051041)
(en) Toone JR, Applegarth DA, Coulter-Mackie MB, James ER, «Biochemical and molecular investigations of patients with nonketotic hyperglycinemia», Mol. Genet. Metab., vol.70, no2, , p.116–21 (PMID10873393, DOI10.1006/mgme.2000.3000)
(en) Toone JR, Applegarth DA, Coulter-Mackie MB, James ER, «Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH)», Mol. Genet. Metab., vol.72, no4, , p.322–5 (PMID11286506, DOI10.1006/mgme.2001.3158)
(en) Kure S, Kojima K, Ichinohe A, et al., «Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia», Ann. Neurol., vol.52, no5, , p.643–6 (PMID12402263, DOI10.1002/ana.10367)
(en) Strausberg RL, Feingold EA, Grouse LH, et al., «Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences», Proc. Natl. Acad. Sci. U.S.A., vol.99, no26, , p.16899–903 (PMID12477932, PMCID139241, DOI10.1073/pnas.242603899)
(en) Dinopoulos A, Kure S, Chuck G, et al., «Glycine decarboxylase mutations: a distinctive phenotype of nonketotic hyperglycinemia in adults», Neurology, vol.64, no7, , p.1255–7 (PMID15824356, DOI10.1212/01.WNL.0000156800.23776.40)
(en) Flusser H, Korman SH, Sato K, et al., «Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation», Neurology, vol.64, no8, , p.1426–30 (PMID15851735, DOI10.1212/01.WNL.0000158475.12907.D6)
(en) Boneh A, Korman SH, Sato K, et al., «A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem», J. Hum. Genet., vol.50, no5, , p.230–4 (PMID15864413, DOI10.1007/s10038-005-0243-y)
(en) Kimura K, Wakamatsu A, Suzuki Y, et al., «Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes», Genome Res., vol.16, no1, , p.55–65 (PMID16344560, PMCID1356129, DOI10.1101/gr.4039406)
(en) Korman SH, Wexler ID, Gutman A, et al., «Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation», Ann. Neurol., vol.59, no2, , p.411–5 (PMID16404748, DOI10.1002/ana.20759)