Familias GA | crisis encefalopática

Acidemias orgánicas. Caso clínico. La Fe de Valencia

Acidemias orgánicas Dra. Argente Pla...

22 abril, 2023 / 0 Comentario

Neuromonitoring in Rare Disorders of Metabolism 2021

Neuromonitoring in Rare Disorders of 2021...

07 abril, 2023 / 0 Comentario

Case report MRS features during encephalopathic crisis period in 11years old case with GA-1 2015

MRS features during encephalopathic crisis period in 11years old case with GA-1 2015...

07 abril, 2023 / 0 Comentario

Consenso para o tratamento nutricional da acidúria glutárica tipo I Sociedade Portuguesa de Doenças Metabólicas 2007

Consenso para o tratamento nutricional da acidúria glutárica tipo I Sociedade Portuguesa de Doenças Metabólicas 2007...

02 marzo, 2023 / 0 Comentario

C0071 – ACIDEMIA GLUTÁRICA TIPO I Y ESTIMULACIÓN CEREBRAL PROFUNDA: CASE REPORT 2019

C0071 - ACIDEMIA GLUTÁRICA TIPO I Y ESTIMULACIÓN CEREBRAL PROFUNDA: CASE REPORT 2019 CASE REPORT Lara Almunia1 , I. Legarda Ramírez2 , B. Vives Pastor2 , G. Gómez Romero2 , L. Brogui2 , A. Mas Bonet2 y J. Ibáñez Domínguez2 1 Fundación Jiménez...

08 octubre, 2022 / 0 Comentario

P023 – Glutaric Aciduria Type I (GA1), Clinical Characterization and Genetic Study of 11 Chilean Children

P023 - Glutaric Aciduria Type I (GA1), Clinical Characterization and Genetic Study of 11 Chilean Children Troncoso, M.(1); Santander, P.(1); Ruiz, I.(1); Ya´n˜ez, C.(1); Troncoso, L.(1); Barrios, A.(1); Tello, J.(1); Guzma´n, G.(1) (1): Hospital Clı´nico San Borja Arriara´n. Servicio Neuropsiquiatria Infantil, Santiago, Chile Introduction: GA1 is a...

08 octubre, 2022 / 0 Comentario

Clinical and Nutritional Evolution of 24 Patients with Glutaric Aciduria Type 1 in Follow-up at a Center Specialized in Inborn Errors of Metabolism in Chile 2021

Clinical and nutritional evolution of 24 Patients with Glutaric Aciduria Type 1 in Follow-up at a Center Specialized in Inborn Errors of Metabolism in Chile 2021 ...

08 octubre, 2022 / 0 Comentario

149-P Clinical outcome of GA1 in Russia 2007

149-P Clinical outcome of GA1 in Russia 2007...

05 octubre, 2022 / 0 Comentario

Seizures Versus Dystonia in Encephalopathic Crisis of Glutaric Aciduria Type I 2009

Seizures Versus Dystonia in Encephalopathic Crisis of Glutaric Aciduria Type I 2009 Alfredo Cerisola, MD Jaume Campistol, MD, PhD Belén Pérez-Dueñas, MD Francesc X. Sanmartí, MD, PhD Antonia Ribes, MD, PhD María Antonia Vilaseca, MD, PhD Show all authors DOI:https://doi.org/10.1016/j.pediatrneurol.2008.12.009 En más de dos tercios de los...

25 abril, 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

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