Glutaric aciduria type 1: a review of phenotypic and genetic characteristics

Genetic Characteristics ◽

Effect of Newborn Screening and Adherence to Recommended Treatment on Clinical Outcome in Glutaric Aciduria Type 1: A Meta-analysis

10.1055/s-0039-1698234 ◽

2019 ◽

Author(s):

Nikolas Boy ◽

Sven F. Garbade ◽

Katharina Mengler ◽

Stefan Kölker

Keyword(s):

Clinical Outcome ◽

Newborn Screening ◽

Meta Analysis ◽

Glutaric Aciduria Type ◽

Glutaric Aciduria ◽

Recommended Treatment

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

European Journal of Medical Case Reports ◽

10.24911/ejmcr/1/4 ◽

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 ◽

Novel Variant

Natural history of glutaric aciduria type 1

Archives of Disease in Childhood ◽

10.1136/adc.83.1.87g ◽

2000 ◽

Vol 83 (1) ◽

pp. 87g-87 ◽

Cited By ~ 3

Author(s):

J. COLLINS

Keyword(s):

Natural History ◽

Glutaric Aciduria Type ◽

Glutaric Aciduria ◽

History Of

Anesthetic management in two siblings with glutaric aciduria type 1

Pediatric Anesthesia ◽

10.1111/j.1460-9592.2005.01629.x ◽

2006 ◽

Vol 16 (2) ◽

pp. 188-191 ◽

Cited By ~ 7

Author(s):

JOAQUIN HERNANDEZ-PALAZON ◽

LORENZO SANCHEZ-RODENAS ◽

JUAN F. MARTINEZ-LAGE ◽

ISABEL CASTANO COLLADO

Keyword(s):

Anesthetic Management ◽

Glutaric Aciduria Type ◽

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

Child s Nervous System ◽

10.1007/bf00301092 ◽

1994 ◽

Vol 10 (3) ◽

pp. 198-203 ◽

Cited By ~ 33

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 ◽

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

10.1055/s-0041-1739688 ◽

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: Clinical, biochemical and molecular findings in patients from Israel

European Journal of Paediatric Neurology ◽

10.1016/j.ejpn.2006.11.006 ◽

2007 ◽

Vol 11 (2) ◽

pp. 81-89 ◽

Cited By ~ 19

Author(s):

Stanley H. Korman ◽

Cornelis Jakobs ◽

Patricia S. Darmin ◽

Alisa Gutman ◽

Marjo S. van der Knaap ◽

...

Keyword(s):

Glutaric Aciduria Type ◽

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

American Journal of Neuroradiology ◽

10.3174/ajnr.a7199 ◽

2021 ◽

Author(s):

A.A. Ntorkou ◽

J. Daire ◽

F. Renaldo ◽

D. Doummar ◽

M. Alison ◽

...

Keyword(s):

Imaging Finding ◽

Optic Chiasm ◽

Glutaric Aciduria Type ◽

Outcome of the glutaric aciduria type 1 (GA1) newborn screening program in Manitoba: 1980–2020

Molecular Genetics and Metabolism Reports ◽

10.1016/j.ymgmr.2020.100666 ◽

2020 ◽

Vol 25 ◽

pp. 100666

Author(s):

A. Mhanni ◽

N. Aylward ◽

N. Boy ◽

B. Martin ◽

A. Sharma ◽

...

Keyword(s):

Newborn Screening ◽

Screening Program ◽

Glutaric Aciduria Type ◽

Newborn Screening Program ◽

Glutaric aciduria type 1: neuroimaging features with clinical correlation

Pediatric Radiology ◽

10.1007/s00247-015-3395-8 ◽

2015 ◽

Vol 45 (11) ◽

pp. 1696-1705 ◽

Cited By ~ 21

Author(s):

Shaimaa Abdelsattar Mohammad ◽

Heba Salah Abdelkhalek ◽

Khaled A. Ahmed ◽

Osama K. Zaki

Keyword(s):

Glutaric Aciduria Type ◽

Clinical Correlation ◽