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Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes 2020

Ethnic variability in newborn metabolic screening markers...

26 abril, 2023 / 0 Comentario

Patrones Neurorradiológicos en las Enfermedades Metabólicas Hereditarias: Claves Diagnósticas

Patrones Neurorradiológicos en las Enfermedades Metabólicas 2019 Aciduria Glutárica Tipo 1. Trastorno autosómico recesivo causado por déficit de la enzima mitocondrial glutaril-coenzima A deshidrogenasa, dando lugar a acumulación de ácido glutárico, lo que resulta en fallo de la operculización en el 3º trimestre de vida fetal. Clínicamente...

26 abril, 2023 / 0 Comentario

Glutaric aciduria

Glutaric aciduria _ MedLink Neurology...

04 marzo, 2023 / 0 Comentario

GA1 2006

Glutaric Acidemia Type 1 2006...

04 marzo, 2023 / 0 Comentario

Acta AECOM 2015

Nuevas enfermedades metabólicas incluidas en el cribado neonatal en España pag 6 Aspectos clínicos y terapéuticos pag 29 Diagnóstico prenatal de malformaciones cerebrales en pacientes con déficit múltiple de deshidrogenasas pag 97 ACTA_AECOMXI (1) ...

02 marzo, 2023 / 0 Comentario

137-0 INTERNATIONAL CROSS-SECTIONAL STUDY ON OUTCOME AND THERAPEUTIC EFFICACY IN GLUTARIC ACIDURIA TYPE I (GA-I) 2004

137-0 INTERNATIONAL CROSS-SECTIONAL STUDY ON OUTCOME AND THERAPEUTIC EFFICACY IN GLUTARIC ACIDURIA TYPE I (GA-I) Kolker S, Greenberg CR, Leonard JV, Saudubray JM, Kalkanoglu HS, Walter JH, Lagler F, Schwahn B, Troncoso M, Chalmers RA, Lund A, Koeller D, Burlina A, Wajner M, Christensen E, Zschocke...

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

P-184 THE CLINICAL, BIOCHEMICAL AND MOLECULAR FEATURES OF THREE IRANIAN PATIENTS WITH GLUTARYL—COA DEHYDROGENASE DEFICIENCY 2011

Background: GA1 is an autosomal recessive disease caused by the deficiency of mitochondrial glutaryl COA dehydrogenase. Patients usually have symptoms of hypotonia, seizure, loss of motor skills and progressive macrocephaly. Diagnosis is ascertained by the elevated C5DC, glutaric acid and hydroxy glutaric acid. Case Report: We...

27 septiembre, 2022 / 0 Comentario

Diagnóstico de los errores innatos del metabolismo 2008

Diagnostico_de_los_errores_innatos_del_m...

16 diciembre, 2019 / 0 Comentario

Urinary metabolic profiling for detection of metabolic disorders 2008

Urinary metabolic...

04 agosto, 2019 / 0 Comentario

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