Results 151 to 160 of about 3,887 (227)

Necrotizing pneumonia in children: radiological aspect and comparison of CT vs US [PDF]

, 2016
Alamo Maestre, L., Carrard, J., Gudinchet, F., Hafen, G., Tenisch, E.   +4 more
core  

Autism spectrum disorder and inherited metabolic diseases: are there any common features? [PDF]

Pediatr Endocrinol Diabetes Metab
Lipiński P.
europepmc   +1 more source

Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis. [PDF]

Int J Neonatal Screen
Huang S, Yao Q, Kong F, Wu M, Qiu X, Zhao P, Zeng Y, Luo J, Xu L, Zhou J.   +9 more
europepmc   +1 more source

Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience. [PDF]

Orphanet J Rare Dis
Al Khudari R, Baqla S, Al Asmar D.
europepmc   +1 more source

Expanding the Epidemiological and Phenotypic Spectrum of MEGDEL Syndrome: The First Case Report From Egypt. [PDF]

Clin Med Insights Pediatr
Sadek AA, Aladawy MA, Mansour TM, Fouad MF, Magdy RM, Elmoursy MM, Abdelkreem E.   +6 more
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

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
openaire   +2 more sources

Impairment of astrocytic glutaminolysis in glutaric aciduria type I

Journal of Inherited Metabolic Disease, 2017
AbstractGlutaric aciduria type I is a rare, autosomal recessive, inherited defect of glutaryl‐CoA dehydrogenase. Deficiency of this protein in L‐lysine degradation leads to the characteristic accumulation of nontoxic glutarylcarnitine and neurotoxic glutaric acid (GA), glutaryl‐CoA, and 3‐hydroxyglutaric acid.
Shoko, Komatsuzaki, Raga Deepthi, Ediga, Jürgen G, Okun, Stefan, Kölker, Sven W, Sauer   +4 more
openaire   +3 more sources

Glutaric aciduria type I

Neurology, 1987
We present four patients, two pairs of siblings, with glutaric aciduria type I (GA I). All four had undetectable glutaryl-CoA dehydrogenase activity on fibroblast culture and massive urinary excretion of glutaric acid. All had serum carnitine deficiency at time of diagnosis except one patient who was diagnosed neonatally.
N, Amir, O, el-Peleg, R S, Shalev, E, Christensen   +3 more
openaire   +2 more sources

Glutaric aciduria type I presenting with hypoglycaemia

Journal of Inherited Metabolic Disease, 1984
AbstractWe present a child with glutaryl CoA‐dehydrogenase deficiency (type I glutaric aciduria) who presented with bilateral subdural hydromas, and progressive choreoathetosis and dysarthria. The diagnosis was made when she was investigated for hypoglycaemia at the age of 3.5 years. Temporary adrenocortical insufficiency was also noted.
D B, Dunger, G J, Snodgrass
openaire   +2 more sources

Glutaric Aciduria Type I: A Neuroimaging Diagnosis?

Journal of Child Neurology, 2005
Glutaric aciduria type I is an autosomal recessive disorder of organic acid metabolism secondary to glutaryl—coenzyme A (CoA) dehydrogenase deficiency. We report a previously healthy 17-month-old girl who presented with acute dystonia. Conventional T2-weighted and fluid-attenuated inversion recovery magnetic resonance images of the brain showed hyper ...
Cesar C, Santos, E Steve, Roach
openaire   +2 more sources