Results 161 to 170 of about 4,483 (224)

Chorea in Hereditary Leukodystrophies - Overview of Two Cases. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Milovanović A, Ječmenica-Lukić M, Mazalica N, Radišić V, Đorđević-Milošević M, Marjanović A, Branković M, Marković V, Kresojević N, Kostić V, Dragašević-Mišković N.   +10 more
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Glutaric Aciduria Type 1

RadioGraphics, 2023
Antariksh Vijan, Parisa Khoshpouri, Alexandra N. Murphy, Foram Gala   +3 more
semanticscholar   +5 more sources

Does glutaric aciduria type 1 affect hearing function?

Metabolic Brain Disease, 2022
This study aimed to evaluate audiological findings among patients with glutaric aciduria type 1 (GA-1). We used a large test battery for the audiological evaluation of 17 individuals with GA-1 (the study group) and 20 healthy individuals (the control group).
Dilek Demiral Özgedi̇k, Suna Tokgöz Yılmaz, Berrak Bilginer Gürbüz, H. Serap Si̇vri̇, Gonca Sennaroğlu   +4 more
openaire   +3 more sources

Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes

European Journal of Pediatrics
Glutaric aciduria type 1 (GA1) is a rare metabolic disorder characterized by a deficiency in the enzyme glutaryl-CoA dehydrogenase. This study aims to present the clinical, biochemical, genetic, and neuroimaging findings of GA1 patients, emphasizing the importance of early detection and the potential benefits of incorporating GA1 into NBS programs. The
Merve Yoldas Celik, Ebru Canda, Havva Yazici, Fehime Erdem, Ayse Yuksel Yanbolu, Yasemin Atik Altınok, Cenk Eraslan, Ayca Aykut, Asude Durmaz, Sara Habif, Sema Kalkan Ucar, Mahmut Coker   +11 more
openaire   +4 more sources

Deep brain stimulation and intrathecal/intraventricular baclofen for glutaric aciduria type 1: A scoping review, individual patient data analysis, and clinical trials review

Journal of Inherited Metabolic Disease, 2023
Glutaric aciduria type 1 (GA1) is an autosomal recessive disease frequently leading to dystonia. Deep brain stimulation (DBS), intrathecal baclofen (ITB), and intraventricular baclofen (IVB) are the current interventional treatment options for refractory
N. Shlobin, Katherine M Hofmann, R. Keating, C. Oluigbo   +3 more
semanticscholar   +1 more source

A Rare Treatable Complication of Neuroregression in Glutaric Aciduria Type 1 Management: Vitamin B12 Deficiency

Journal of Pediatric Neurology online, 2023
Glutaric aciduria type 1 is a rare treatable inborn error of metabolism caused due to deficiency of the enzyme glutaryl-CoA dehydrogenase. A restrictive lysine and tryptophan diet has significantly improved the outcome of presymptomatically diagnosed ...
V. Gowda, Asha Shamnur, Varunvenkat M. Srinivasan, Dhananjaya K. Vamyanmane   +3 more
semanticscholar   +1 more source

Colorectal cancer in a patient with glutaric aciduria type 1

Pediatrics International
Kiyoshi Hayasaka, Chikahiko Numakura, Hiroko Sato, Toru Meguro, Tetsuo Mitsui   +4 more
openaire   +3 more sources

Subdural hematoma and glutaric aciduria type 1

Brain and Development, 1993
I.F.: 1.382 CLINICAL ...
DRIGO P, BURLINA AB, BATTISTELLA, PIER ANTONIO   +2 more
openaire   +2 more sources