نتایج جستجو برای: ethylmalonic aciduria
تعداد نتایج: 1386 فیلتر نتایج به سال:
In glutaric aciduria type 1, glutaryl-coenzyme A and its derivatives are produced from intracerebral lysine and entrapped at high concentrations within the brain, where they interfere with energy metabolism. Biochemical toxicity is thought to trigger stroke-like striatal degeneration in susceptible children under 2 years of age. Here, we explore vascular derangements that might also contribute ...
Determination of Ethylmalonic Acid in Human Urine by Ion Chromatography with Suppressed Conductivity
Bilateral hydronephrosis due to obstructive ureteral stone associated with norovirus gastroenteritis
Recently, cases of urinary tract calculi causing hydronephrosis and postrenal renal failure associated with viral gastroenteritis were documented, yet few were related to norovirus. During norovirus gastroenteritis, observation of oliguria, aciduria, low FENa value, and elevation of blood or urinary uric acid level may necessitate clinical workout for nephrolithiasis.
We describe the first case of a Kocuria rhizophila infection in a boy with methylmalonic aciduria. A single clone was isolated from blood samples drawn through a port system and from peripheral veins during septic episodes within a 2-year period. K. rhizophila expands the emerging number of "micrococci" considered to be etiologically relevant.
A 7-month-old boy with glutaric aciduria type 1 (GA1) presented with 1 week of clustered flexor spasms. Examination revealed mild axial hypotonia without encephalopathy. Video-EEG monitoring revealed hypsarrhythmia and infantile spasms (figure, A). MRI showed acute basal ganglia injury (figure, B). After 3 weeks of prednisolone treatment, 5-month follow-up showed continued resolution of hypsarr...
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