Familias GA | distonía

421 – Glutaric Aciduria Type 1 Misdiagnosed as Dystonic Cerebral Palsy 2013

421 - Glutaric Aciduria Type 1 Misdiagnosed as Dystonic Cerebral Palsy 2013...

19 septiembre, 2022 / 0 Comentario

178 – Retrospective Audit of the Dietary Management of Current Patients with Glutaric Aciduria Type 1 at a Single Metabolic Center 2013

178 - Retrospective Audit of the Dietary Management of Current Patients with Glutaric Aciduria Type 1 at a Single Metabolic Center 2013...

18 septiembre, 2022 / 0 Comentario

The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS 2021

The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS Sebile Kılavuz , Derya Bulut , Deniz Kor , Berna Şeker-Yılmaz , Neslihan Özcan , Faruk Incecik , Bilen Onan , Gülay Ceylaner , Neslihan Önenli-Mungan › Author AffiliationsFunding None. Abstract Background Glutaric aciduria type 1(GA-1) is an inherited cerebral organic aciduria. Untreated patients with GA-1 have a risk of acute encephalopathic crises...

30 diciembre, 2021 / 0 Comentario

Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma 2021

Low excretor glutaric aciduria type 1 of insidious onset with...

30 diciembre, 2021 / 0 Comentario

Glutaric Aciduria Type 1: A Case Report and Review of Literature 2021

https://pubmed.ncbi.nlm.nih.gov/33585064/ Abstract An 8-month-old male infant patient was referred to our institution (from elsewhere) with a history of fever, convulsions, dystonic posturing, altered sensorium, and loss of motor and mental milestones since past 1 month. Upon admission to our institution, a neuroimaging (magnetic resonance imaging of the...

29 diciembre, 2021 / 0 Comentario

distonía Tag

421 – Glutaric Aciduria Type 1 Misdiagnosed as Dystonic Cerebral Palsy 2013

178 – Retrospective Audit of the Dietary Management of Current Patients with Glutaric Aciduria Type 1 at a Single Metabolic Center 2013

The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS 2021

Low excretor glutaric aciduria type 1 of insidious onset with dystonia and atypical clinical features, a diagnostic dilemma 2021

Glutaric Aciduria Type 1: A Case Report and Review of Literature 2021

Pediatric Glutaric Aciduria Type 1: 14 Cases, Diagnosis and Management 2021

Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1 2014

Low excretor glutaric aciduria type 1 of insidious onset with 2020

Encefalitis pediátrica del receptor anti-N-metil-D-aspartato imitando aciduria glutárica tipo 1 Un informe de caso 2020

Pediatric Anti-N-methyl-D-aspartate Receptor Encephalitis Mimicking Glutaric Aciduria Type 1 A Case Report 2020