Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase ( GLDC ) gene

2017 ◽  
Vol 39 (7) ◽  
pp. 601-605 ◽  
Author(s):  
Waseem Khraim ◽  
Bassam Abu-Libdeh ◽  
Suhail Ayesh ◽  
Imad Dweikat
Keyword(s):  
Novel Mutation ◽  
Glycine Decarboxylase ◽  
Clinical Heterogeneity ◽  
Glycine Encephalopathy ◽  
Gldc Gene

A Known and a Novel Mutation in the Glycine Decarboxylase Gene in a Newborn with Classic Nonketotic Hyperglycinemia

2012 ◽  
Vol 43 (03) ◽  
pp. 164-167 ◽  
Author(s):  
P. Beijer ◽  
K.D. Lichtenbelt ◽  
F.C. Hofstede ◽  
P.G.J Nikkels ◽  
P. Lemmers ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Glycine Decarboxylase ◽  
Nonketotic Hyperglycinemia

scholarly journals Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy

2014 ◽  
Vol 59 (11) ◽  
pp. 593-597 ◽  
Author(s):  
Nor Azimah Abdul Azize ◽  
Wan Zurinah Wan Ngah ◽  
Zulhabri Othman ◽  
Norsiah Md Desa ◽  
Chen Bee Chin ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Glycine Decarboxylase ◽  
Glycine Cleavage System ◽  
Glycine Encephalopathy ◽  
Glycine Cleavage

Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy

2006 ◽  
Vol 29 (1) ◽  
pp. 135-142 ◽  
Author(s):  
C. Conter ◽  
M. O. Rolland ◽  
D. Cheillan ◽  
V. Bonnet ◽  
I. Maire ◽  
...  
Keyword(s):  
Genetic Heterogeneity ◽  
Glycine Encephalopathy ◽  
Gldc Gene

scholarly journals Clinical heterogeneity of primary familial brain calcification due to a novel mutation in PDGFB

Neurology ◽  
2015 ◽  
Vol 84 (17) ◽  
pp. 1818-1820 ◽  
Author(s):  
M. J. Keogh ◽  
A. Pyle ◽  
D. Daud ◽  
H. Griffin ◽  
K. Douroudis ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Clinical Heterogeneity ◽  
Primary Familial Brain Calcification ◽  
Brain Calcification

scholarly journals A novel mutation in the glycine decarboxylase gene in patient with non-ketotic hyperglycinemia

Neurosciences ◽  
2017 ◽  
Vol 22 (2) ◽  
pp. 131-133 ◽  
Author(s):  
Engin Kose ◽  
Uluc Yis ◽  
Semra Hiz ◽  
Nur Arslan
Keyword(s):  
Novel Mutation ◽  
Glycine Decarboxylase

Intrafamilial Clinical Heterogeneity Associated with a Novel Mutation of the Retinal Degeneration Slow/Peripherin Gene

2007 ◽  
Vol 39 (5) ◽  
pp. 255-259 ◽  
Author(s):  
Francesca Simonelli ◽  
Francesco Testa ◽  
Valeria Marini ◽  
Emanuela Interlandi ◽  
Settimio Rossi ◽  
...  
Keyword(s):  
Retinal Degeneration ◽  
Novel Mutation ◽  
Clinical Heterogeneity
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