Titlebook: JIMD Reports, Volume 35; Eva Morava,Matthias Baumgartner,Verena Peters Book 2017 Society for the Study of Inborn Errors of Metabolism (SSI

vitamin-D

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RENAL

,Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children’s Hospital,id (CSF) pressure. The only symptomatic child presented an Arnold–Chiari anomaly with enlarged ventricles, whereas the other three, all asymptomatic, were diagnosed by scheduled fundoscopy and had normal neuroimaging studies. All four patients had at least one known risk factor for developing intrac

Fantasy

,Severe Respiratory Acidosis in Status Epilepticus as a Possible Etiology of Sudden Death in Lesch–N and review, we hypothesize that sudden death from respiratory failure in Lesch–Nyhan disease may in some cases be due to seizure-induced respiratory failure, akin to sudden unexpected death in epilepsy (SUDEP). We suggest screening for paroxysmal respiratory events; consideration of electroencephal

草率男

Vitamin B12 Administration by Subcutaneous Catheter Device in a Cobalamin A (cblA) Patient,ways in the normal range..To date, placement of a subcutaneous catheter to minimize the pain related to parenteral vitamin B12 punctures has been described only in a patient with deficiency of the enzyme methylmalonyl-CoA mutase (MUT). No other experiences are described in the literature..Our case s

他一致

Previously Unreported Biallelic Mutation in , Are Sensorineural Hearing Loss and Basal Ganglia Lesid intentional tremor and dyskinesia, spasticity (particularly at the lower extremities), and dystonia were observed. Sensorineural hearing loss was also diagnosed. MRI showed bilateral basal ganglia signal alterations. Plasma lactate levels were increased, as was urinary excretion of 3-methylglutaco

catagen

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Glycogen