Results 151 to 160 of about 3,221 (198)

Glutaric acidemia type 1 : human pathology and attempted development of an animal model

, 2004
openaire   +1 more source

Glutaric Acidemia Type-1: A Metabolic Challenge

Pakistan Armed Forces Medical Journal
Glutaric Acidemia Type-1 (GA-1) is characterized by glutaryl-CoA dehydrogenase (GCDH) impairment. This enzyme deficit causes harmful metabolites, particularly glutaric acid, to accumulate in affected persons' tissues and fluids.
Muhammad Usman Munir, Monaza Batool, Muhammad Qaiser Alam Khan, Nisar Ahmed   +3 more
semanticscholar   +2 more sources

Some of the next articles are maybe not open access.

Related searches:

Clinico-Radiological Correlation in 26 Egyptian Children with Glutaric Acidemia Type 1

Neuropediatrics, 2021
Background Glutaric acidemia type 1 (GA1) is an inherited neurometabolic disease with significant morbidity. However, neuro-radiological correlation is not completely understood.
A. Sadek, M. Aladawy, Rofaida M. Magdy, T. Mansour, A. Othman, B. Hawary, M. Ibrahim, Mohammed H. Hassan, Elsayed Abdelkreem   +8 more
semanticscholar   +3 more sources

Glutaric Acidemia Type 1: Diagnosis, Clinical features, and Outcome in a Portuguese Cohort.

Endocrine, Metabolic & Immune Disorders - Drug Targets, 2023
INTRODUCTION Glutaric acidemia type 1 (GA1) is a rare autosomal recessive disorder characterized by a deficiency of glutaryl-CoA dehydrogenase, resulting in the accumulation of glutaric acid (GA), 3-hydroxyglutaric acid, and glutarylcarnitine, especially
Patrícia Lipari Pinto, Beatriz Câmara, C. Florindo, Rita Santos Loureiro, Inês Jardim, Carmen Sousa, L. Vilarinho, P. Janeiro, I. Tavares de Almeida, Ana Gaspar   +9 more
semanticscholar   +3 more sources

Disorder: Glutaric acidemia type 1

A Quick Guide to Metabolic Disease Testing Interpretation, 2020
P. Jones, Khushbu K. Patel, D. Rakheja
semanticscholar   +2 more sources

Glutaric Acidemia Type 1: An Inherited Neurometabolic Disorder of Intoxication

Handbook of Neurotoxicity, 2021
M. Wajner
semanticscholar   +2 more sources

Language characteristics in child with glutaric acidemia Type 1

Indian Journal of Otology, 2016
Glutaric acidemia Type 1 is a condition due to inborn error of metabolism. It is generally characterized by elevated urinary excretion of glutaric acid, 3-hydroglutaric acid, and glutarylcarnitine. This can result in medical issues along with speech and language deficits. The extent of problems often varies from individual to individual.
Veerabudren Sattiavany, P. Bhargavi, Sunila John   +2 more
semanticscholar   +2 more sources

Low excretor glutaric acidemia type 1 with transient lesions in the basal ganglia

Brain and Development
Yohane Miyata, Kei Murayama, Yasushi Okazaki, Chunhua Zhang, Maasa Abe, Masami Narita   +5 more
semanticscholar   +2 more sources

Nutrition Management of Glutaric Acidemia Type 1

, 2015
Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism. A defect of glutaryl-CoA dehydrogenase results in the accumulation of 3-hydroxyglutaric acid and glutaric acid. Nutrition management of GA-1 consists of restricting lysine and tryptophan, supplementing L-carnitine, and ...
L. Bernstein
semanticscholar   +2 more sources

Neuroimaging hallmarks of glutaric acidemia type 1: Early recognition through the "bat-wing" sign in an infant with seizures

International Journal of Radiology and Diagnostic Imaging
Nivedita Radder, Shrinivas Radder
semanticscholar   +2 more sources