Results 31 to 40 of about 2,797 (225)

Glutaric Aciduria (Type I) in Young Infants with Seizures: A case series highlighting Diagnostic Dilemma with Radiological Keys

Journal of Clinical and Diagnostic Research
Glutaric Aciduria Type I (GA-1) is an autosomal recessive neurometabolic disorder characterised by the accumulation of toxic metabolites due to Glutaryl-CoA Dehydrogenase (GCDH) deficiency, leading to striatal damage and neurodegeneration.
Parth Nikhil Doshi, Kunal Solanki, Ashutosh Patel, Prerna Jain   +3 more
doaj   +2 more sources

Glutaric aciduria, type I [PDF]

, 2012
Ángela Ortíz, Lisseth Cabarcas, Eugenia Espinosa, Olga Yaneth Echeverri-Peña, Johana Guevara, E. Sánchez Ruiz, Zulma Cifuentes, Luis Alejandro Barrera   +7 more
openalex   +2 more sources

Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I. [PDF]

Acta Neuropathol Commun, 2014
Zinnanti WJ, Lazovic J, Housman C, Antonetti DA, Koeller DM, Connor JR, Steinman L.   +6 more
europepmc   +3 more sources

A Case of Mistaken Identity: Glutaric Aciduria Type I Masquerading as Postmeningitic Hydrocephalus.

J Clin Imaging Sci, 2018
Rajani H, Grover SB, Antil N, Katyan A.
europepmc   +2 more sources

Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1. [PDF]

J Inherit Metab Dis
ABSTRACT Glutaric aciduria type 1 (GA1) is a neurometabolic disorder characterized by striatal injury in infancy and extrastriatal central nervous system abnormalities, the latter depending on the biochemical subtype. Whether the peripheral nervous system (PNS) is also affected has not been systematically studied.
Preisner F, Garbade SF, Harting I, Wortmann SB, Mühlhausen C, Heiland S, Bendszus M, Kölker S, Boy N.   +8 more
europepmc   +2 more sources

Glutaric aciduria type I

, 2013
Yusra Sheikh
openalex   +2 more sources

Pediatric glutaric aciduria type 1: 14 cases, diagnosis and management

Annals of Indian Academy of Neurology, 2021
Introduction: Glutaric aciduria type I is an autosomal recessive disorder of lysine metabolism due to the defect of the enzyme glutaryl-CoA dehydrogenase.
Leema P Cornelius, Vivekasaravanan Raju, Asir Julin   +2 more
doaj   +1 more source

Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I. [PDF]

BBA Clin, 2014
Janssen M, Kluijtmans L, Wortmann SB.
europepmc   +2 more sources

Etiology and Treatment of Glutaric Aciduria Type I

Journal of Clinical and Medical Images
In contrast to other rare and intractable conditions with elusive origins, the causes of genetic diseases, such as Glutaric Aciduria Type I, are well understood by scientists. The rapid progress in molecular biology and biochemistry has made it possible to easily identify genetic abnormalities in patients.
Xinghong Yang
openalex   +2 more sources

Neurodevelopmental profiles of children with glutaric aciduria type I diagnosed by newborn screening: a follow-up case series. [PDF]

JIMD Rep, 2015
Brown A, Crowe L, Beauchamp MH, Anderson V, Boneh A.   +4 more
europepmc   +3 more sources