P-079 Breast feeding (BF) management of infants with glutaric aciduria type 1 (GA1)
Breast feeding (BF) management of infants with glutaric 2015 pag 89...
Asociación sin ánimo de lucro, inscrita en el Registro Nacional de Asociaciones con el número 613.620. Pertenece a FEDER, Federación Española de Enfermedades Raras que une a toda la comunidad de familias con enfermedades poco frecuentes en España; y a FEEHM, Federación Española de Enfermedades Metabólicas Hereditarias.
Breast feeding (BF) management of infants with glutaric 2015 pag 89...
149-P Clinical outcome of GA1 in Russia 2007...
Stable-isotope dilution gas chromatography–mass spectrometric measurement of 3-hydroxyglutaric acid, glutaric acid and related metabolites in body fluids of patients with glutaric aciduria type 1 found in newborn screening 2005 ...
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SUPLEMENTO-AECOM-2015 (4)...
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...
Case Reports 1987 Oct;37(10):1654-7. doi: 10.1212/wnl.37.10.1654. Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features N Amir 1, O el-Peleg, R S Shalev, E Christensen DOI: 10.1212/wnl.37.10.1654 Abstract 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...
FALSOS POSITIVOS EN CRIBADO NEONATAL ELEVACIÓN DE C5-CARNITINA ...
Molecular enzymology of carnitine transfer and transport ramsay2001...
L-Carnitine and acetyl-L-carnitine roles and neuroprotection in developing brain 2017...
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