نتایج جستجو برای: ethylmalonic aciduria
تعداد نتایج: 1386 فیلتر نتایج به سال:
The search for a Z is one of the tasks of future colliders. I study the capability to detect the Z at a linear ee collider operating below resonance production. Depending on mZ and the collider parameters we will be able to discriminate between Z models.
Here, we show a CuBr2-catalyzed approach for a highly enantioselective synthesis (93-99% ee) of allenols from aldehydes and terminal alkynols with the absolute configuration being controlled by applying readily available (R)- or (S)-α,α-diphenylprolinol.
Işıkay S, Yaman A, Ceylaner S. An infant with glutaric aciduria type IIc diagnosed with a novel mutation. Turk J Pediatr 2017; 59: 315-317. Glutaric aciduria type II is a rare inborn error of metabolism. The clinical picture is highly variable with symptoms ranging from acute metabolic decompensations to chronic, mainly muscular problems or even asymptomatic cases. Herein we described a 7-month...
clinical differential diagnosisthe organic acidemias are important in the differential diagnosis of metabolic and neurologic derangement in the neonate and of new-onset neurologic signs in the older child. a-organic aciduriaseveral disorders, not classified as primary disorders of organic acid metabolism, have a characteristic urinary organic acid profile that suggests the appropriate diagnosis...
An uncommon autosomal recessive organic acid disease is malonic aciduria. This may be easily identified and included in the NBS programmes by means of widespread use tandem mass spectrometry’s study amino acid/acylcarnitine profile using dried blood spots (DBS) for newborn screening. In Tamil Nadu, we reported first screened diagnosed with aciduria screening (NBS) early neonatal period. The pat...
Argininosuccinic aciduria is a urea cycle disorder caused by an argininosuccinate lyase enzyme deficiency that ends with nitrogen accumulation as ammonia. Argininosuccinic aciduria patients are at risk for long-term complications including poor neurocognitive outcome, hepatic disease, and systemic hypertension despite strict pharmacologic and dietary therapy. As the liver is the principle site ...
The reaction between 3-methyl-4-nitro-5-styrylisoxazoles and ethyl isocyanoacetate proceeded under phase transfer catalysis to give enantioenriched monoadducts in high enantiomeric excess (up to 99% ee). The resulting adducts were subsequently cyclised to give 2,3-dihydropyrroles and substituted pyrrolidines in identical high ees and as a single diastereoisomer.
Nefrologia 2014;34(4):xx 15 ed presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type. Prenat Diagn 2009;29:266-70. 3. Rogé Canales M, Rodrigo Gonzalo de Liria C, Prats Viñas LJ, Vaquero Pérez M, Ribes Rubió A, Rodés Monegal M, et al. Síndrome hemolítico-urémico neonatal asociado a aciduria metilmalónica y homocistinuria. An Esp Pediatr 1996;45:97-8. 4. Menni F, Testa S, Guez...
we encountered a patient with methylmalonic aciduria associated with skin lesions resembling acrodermatitis enteropathica. this child was being fed with a low-protein diet when the skin disorder developed. a deficiency in plasma levels isoleucine, was confirmed. supplementation of a high-caloric, protein-rich diet led to a prompt improvement of skin lesions. we assume that in our patient the sk...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید