نتایج جستجو برای: ethylmalonic aciduria

تعداد نتایج: 1386  

1997
Sabine Riemann

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.

Journal: :Chemical communications 2015
Xin Huang Tao Cao Yulin Han Xingguo Jiang Weilong Lin Jiasheng Zhang Shengming Ma

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.

Journal: :The Turkish journal of pediatrics 2017
Sedat Işıkay Ayhan Yaman Serdar Ceylaner

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...

Journal: :iranian journal of child neurology 0
mahmoud reza ashrafi professor of pediatric neurology- children’s medical center, tehran university of medical sciences,tehran,iran alireza tavasoli fellow of pediatric neurology- children’s medical center tehran university of medical sciences,tehran, iran

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...

Journal: :International Journal of Contemporary Pediatrics 2023

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...

Journal: :Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation 2017
Yucel Yankol Nesimi Mecit Turan Kanmaz Koray Acarli Munci Kalayoglu

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 ...

Journal: :Organic & biomolecular chemistry 2015
Paolo Disetti Maria Moccia Diana Salazar Illera Surisetti Suresh Mauro F A Adamo

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.

Journal: :Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia 2014
Cláudia Bento La Salete Martins André Coelho Manuela Almeida Sofia Pedroso Leonídeo Dias Ramon Vizcaíno António Castro-Henriques António Cabrita

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...

Journal: :international journal of pediatrics 0
hesaneh izadyar student research committee, faculty of medicine, mashhad university of medical sciences, mashhad, iran peyman eshraghi department of pediatric endocrinology, imam reza hospital, mashhad university of medical sciences, mashhad, ira

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...

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