Macrocephaly, dystonia, and bilateral temporal arachnoid cysts: glutaric aciduria type 1

1994 ◽  
Vol 10 (3) ◽  
pp. 198-203 ◽  
Author(s):  
Juan F. Mart�nez-Lage ◽  
Carlos Casas ◽  
Maria Asunci�n Fern�ndez ◽  
Alberto Puche ◽  
Trinidad Rodriguez Costa ◽  
...  
Keyword(s):  
Glutaric Aciduria Type ◽  
Arachnoid Cysts ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria

A novel variant of the GCDH gene causes glutaric aciduria type 1 in a Sudanese family: a case report

2017 ◽  
pp. 14-18
Author(s):  
Ahlam Hamed ◽  
Maha Elseed ◽  
Inaam Masoud ◽  
Kanay Yararbas ◽  
Mohamed Babiker
Keyword(s):  
Case Report ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria ◽  
Novel Variant

Anesthetic management in two siblings with glutaric aciduria type 1

2006 ◽  
Vol 16 (2) ◽  
pp. 188-191 ◽  
Author(s):  
JOAQUIN HERNANDEZ-PALAZON ◽  
LORENZO SANCHEZ-RODENAS ◽  
JUAN F. MARTINEZ-LAGE ◽  
ISABEL CASTANO COLLADO
Keyword(s):  
Anesthetic Management ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria

The Biochemical High Excreter Phenotype Is the Major Risk Factor for Cognitive Impairment in Early Diagnosed Individuals with Glutaric Aciduria Type 1

2021 ◽  
Author(s):  
E. M. Charlotte Märtner ◽  
Eva Thimm ◽  
Philipp Guder ◽  
Katharina A. Schiergens ◽  
Frank Rutsch ◽  
...  
Keyword(s):  
Risk Factor ◽  
Cognitive Impairment ◽  
Glutaric Aciduria Type ◽  
Major Risk Factor ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria

Glutaric aciduria type 1: Clinical, biochemical and molecular findings in patients from Israel

2007 ◽  
Vol 11 (2) ◽  
pp. 81-89 ◽  
Author(s):  
Stanley H. Korman ◽  
Cornelis Jakobs ◽  
Patricia S. Darmin ◽  
Alisa Gutman ◽  
Marjo S. van der Knaap ◽  
...  
Keyword(s):  
Glutaric Aciduria Type ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria

Enlargement of the Optic Chiasm: A Novel Imaging Finding in Glutaric Aciduria Type 1

2021 ◽  
Author(s):  
A.A. Ntorkou ◽  
J. Daire ◽  
F. Renaldo ◽  
D. Doummar ◽  
M. Alison ◽  
...  
Keyword(s):  
Imaging Finding ◽  
Optic Chiasm ◽  
Glutaric Aciduria Type ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria
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