|1.||Kure, Shigeo: 5 articles (01/2012 - 07/2002)|
|2.||Toone, Jennifer R: 4 articles (01/2006 - 03/2002)|
|3.||Applegarth, Derek A: 4 articles (01/2006 - 03/2002)|
|4.||Ichinohe, Akiko: 2 articles (09/2008 - 07/2002)|
|5.||Matsubara, Yoichi: 2 articles (09/2008 - 01/2005)|
|6.||Korman, Stanley H: 2 articles (01/2005 - 10/2002)|
|7.||Coulter-Mackie, Marion B: 2 articles (08/2003 - 07/2002)|
|8.||Siriwardena, Komudi: 1 article (05/2015)|
|9.||Donner, Elizabeth J: 1 article (05/2015)|
|10.||Incecik, Faruk: 1 article (05/2015)|
|1.||Nervous System Diseases (Neurological Disorders)
01/01/2008 - "Recent studies of the Na(+)/Cl(-)-dependent glycine transporters GlyT1 and GlyT2 using mouse knockout models and human genetics have revealed that mutations in GlyT2 are a second major cause of hyperekplexia, while the phenotype of the GlyT1 knockout mouse resembles a devastating neurological disorder known as glycine encephalopathy (OMIM 605899). "
09/01/1982 - "In addition to the action of glycine as an inhibitory neurotransmitter, structural alterations of myelin may be important in the pathogenesis of the neurologic disorder of glycine encephalopathy."
10/01/2011 - "Two novel laboratory tests facilitating diagnosis of glycine encephalopathy (nonketotic hyperglycinemia)."
01/15/2006 - "Glycine encephalopathy (nonketotic hyperglycinemia): comments and speculations."
10/01/2002 - "Pitfalls in the diagnosis of glycine encephalopathy (non-ketotic hyperglycinemia)."
03/01/2002 - "Molecular prenatal diagnosis of non-ketotic hyperglycinemia (glycine encephalopathy)."
09/01/2001 - "Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis."
05/01/2007 - "Glycine encephalopathy is typically manifested by refractory neonatal seizures secondary to a defect of the glycine degradative pathway. "
03/01/1993 - "A patient with neonatal glycine encephalopathy who had severe neurologic retardation, spasticity, and seizures died at 17 years of age. "
01/01/2012 - "Of the 62 patients, 16 (25.8%) had a final diagnosis, including succinic semialdehyde dehydrogenase (SSADH) deficiency (n=4), aromatic amino acid decarboxylase (AADC) deficiency (n=4), L-dopa-responsive dystonia (n=3), glycine encephalopathy (n=2), pyridoxal-phosphate-dependent seizures (n=l), cerebral folate deficiency (n=1), and serine biosynthesi defect (n=1). "
|4.||Neurologic Manifestations (Neurological Manifestations)
03/01/1993 - "The neurologic manifestations of neonatal glycine encephalopathy are probably due to neurotransmitter abnormalities, not to myelin damage."
09/01/2008 - "Glycine encephalopathy (GE) is caused by an inherited deficiency of the glycine cleavage system (GCS) and characterized by accumulation of glycine in body fluids and various neurologic symptoms. "
|5.||Metabolic Diseases (Metabolic Disease)
10/01/2011 - "Glycine encephalopathy (GE), also known as non-ketotic hyperglycinemia, is a life-threatening metabolic disease caused by inherited deficiency of the glycine cleavage system (GCS). "
06/01/2005 - "Glycine encephalopathy is a rare autosomal recessive metabolic disease characterized by glycine accumulation in body fluids owing to a defect in the glycine cleavage system. "
|1.||Glycine (Aminoacetic Acid)
|2.||glycine cleavage system
|3.||Glycine Dehydrogenase (Decarboxylating)
|4.||Neurotransmitter Agents (Neurotransmitter)
|6.||Facilitative Glucose Transport Proteins (Glucose Transporter)
|7.||Aminomethyltransferase (Glycine Synthase)
|8.||Succinate-Semialdehyde Dehydrogenase (Succinic Semialdehyde Dehydrogenase)
|9.||Aromatic Amino Acids (Aromatic Amino Acid)