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

Glutaric Aciduria ◽

Novel Variant

Pediatric Anti-N-methyl-D-aspartate Receptor Encephalitis Mimicking Glutaric Aciduria Type 1: A Case Report

Frontiers in Neurology ◽

10.3389/fneur.2020.587324 ◽

2020 ◽

Vol 11 ◽

Author(s):

Daniel Almeida do Valle ◽

Mara Lúcia Schmitz Ferreira Santos ◽

Michelle Silva Zeny ◽

Mara L. Cordeiro

Keyword(s):

Case Report ◽

Glutaric Aciduria Type ◽

Glutaric Aciduria ◽

Aspartate Receptor

Biochemical and molecular diagnosis of glutaric aciduria type 1 in a black South African male child: case report

East African Medical Journal ◽

10.4314/eamj.v78i12.8941 ◽

2001 ◽

Vol 78 (12) ◽

Cited By ~ 5

Author(s):

P. J. Ojwang ◽

R. J. Pegoraro ◽

W. M. Deppe ◽

R. Sanker ◽

N. McKerro ◽

...

Keyword(s):

Case Report ◽

South African ◽

Molecular Diagnosis ◽

Glutaric Aciduria Type ◽

Male Child ◽

Glutaric Aciduria ◽

Black South African

Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms

JIMD Reports - JIMD Reports, Volume 39 ◽

10.1007/8904_2017_44 ◽

2017 ◽

pp. 25-30 ◽

Cited By ~ 4

Author(s):

Marcel du Moulin ◽

Bastian Thies ◽

Martin Blohm ◽

Jun Oh ◽

Markus J. Kemper ◽

...

Keyword(s):

Renal Failure ◽

Acute Renal Failure ◽

Case Report ◽

Glutaric Aciduria Type ◽

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

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

Journal of Biochemical and Clinical Genetics ◽

10.24911/jbcgenetics/183-1543842430 ◽

2019 ◽

pp. 40-53

Author(s):

Ali AlAsmari ◽

Mohammed Saleh ◽

Abdul Zada

Keyword(s):

Glutaric Aciduria Type ◽

Genetic Characteristics ◽

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 ◽