TY - JOUR
T1 - Glycine decarboxylase mutations
T2 - A distinctive phenotype of nonketotic hyperglycinemia in adults
AU - Dinopoulos, Arigirios
AU - Kure, S.
AU - Chuck, G.
AU - Sato, K.
AU - Gilbert, D. L.
AU - Matsubara, Y.
AU - Degrauw, T.
PY - 2005/4/12
Y1 - 2005/4/12
N2 - Three unrelated adult patients with mild hyperglycinemia, infantile hypotonia, mental retardation, behavioral hyperirritability, and aggressive outbursts were screened for glycine decarboxylase (GLDC) mutations; two novel missense mutations (A389V and R739H) were found. Both mutations had a 6 to 8% of normal GLDC activities when expressed in COS7 cells.
AB - Three unrelated adult patients with mild hyperglycinemia, infantile hypotonia, mental retardation, behavioral hyperirritability, and aggressive outbursts were screened for glycine decarboxylase (GLDC) mutations; two novel missense mutations (A389V and R739H) were found. Both mutations had a 6 to 8% of normal GLDC activities when expressed in COS7 cells.
UR - http://www.scopus.com/inward/record.url?scp=16844383873&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=16844383873&partnerID=8YFLogxK
U2 - 10.1212/01.WNL.0000156800.23776.40
DO - 10.1212/01.WNL.0000156800.23776.40
M3 - Article
C2 - 15824356
AN - SCOPUS:16844383873
VL - 64
SP - 1255
EP - 1257
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 7
ER -