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kw.\*:("Maladie de Canavan")

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Results 1 to 16 of 16

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Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometryAL-DIRBASHI, Osama Y; KURDI, Wesam; IMTIAZ, Faiqa et al.Prenatal diagnosis. 2009, Vol 29, Num 5, pp 477-480, issn 0197-3851, 4 p.Article

Relationship between enzyme properties and disease progression in Canavan diseaseZANO, Stephen; WIJAYASINGHE, Yasanandana S; MALIK, Radhika et al.Journal of inherited metabolic disease. 2013, Vol 36, Num 1, pp 1-6, issn 0141-8955, 6 p.Article

La maladie de canavan ou acidurie N-acétyl aspartique : à propos de 1 cas = Canavan disease or N-acetyl aspartic aciduria : a case reportBOUGHAMOURA, L; CHAABANE, F; TILOUCHE, S et al.Archives de pédiatrie (Paris). 2007, Vol 14, Num 2, pp 173-176, issn 0929-693X, 4 p.Article

Radiological Clue to Diagnosis of Canavan DiseaseSREENIVASAN, Priya; PURUSHOTHAMAN, K. K.Indian journal of pediatrics. 2013, Vol 80, Num 1, pp 75-77, issn 0019-5456, 3 p.Article

RasGRF1 disruption causes retinal photoreception defects and associated transcriptomic alterationsFERNANDEZ-MEDARDE, Alberto; BARHOUM, Rima; RIQUELME, Raquel et al.Journal of neurochemistry. 2009, Vol 110, Num 2, pp 641-652, issn 0022-3042, 12 p.Article

Canavan Disease: A Novel MutationSCHOBER, Harald; LUETSCHG, Juerg; HOELINER, Isabella et al.Pediatric neurology. 2011, Vol 45, Num 4, pp 256-258, issn 0887-8994, 3 p.Article

Stoffwechselstörungen mit typischen Veränderungen im MRT : MR-Spektroskopie im ZNS = Metabolic disorders with typical alterations in MRI : MR spectroscopy in the CNSWARMUTH-METZ, M.Der Radiologe (Berlin. Print). 2010, Vol 50, Num 9, pp 775-783, issn 0033-832X, 9 p.Article

The effect of N-acetyl-aspartyl-glutamate and N-acetyl-aspartate on white matter oligodendrocytesKOLODZIEJCZYK, Karolina; HAMILTON, Nicola B; WADE, Anna et al.Brain. 2009, Vol 132, pp 1496-1508, issn 0006-8950, 13 p., 6Article

Dietary triheptanoin rescues oligodendrocyte loss, dysmyelination and motor function in the nur7 mouse model of Canavan diseaseFRANCIS, Jeremy S; MARKOV, Vladimir; LEONE, Paola et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 3, pp 369-381, issn 0141-8955, 13 p.Article

Molecular Characterisation and Prenatal Diagnosis of Asparto-acylase Deficiency (Canavan Disease)—Report of Two Novel and Two Known Mutations from the Indian SubcontinentBIJARNIA, Sunita; KOHLI, Sudha; RATNA DUA PURI et al.Indian journal of pediatrics. 2013, Vol 80, Num 1, pp 26-31, issn 0019-5456, 6 p.Article

Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan diseaseARUN, Peethambaran; MADHAVARAO, Chikkathur N; DENU, John M et al.Journal of inherited metabolic disease. 2010, Vol 33, Num 3, pp 195-210, issn 0141-8955, 16 p.Article

Novel Mutation of Aspartoacylase Gene in a Turkish Patient with Canavan DiseaseUNALP, Aycan; ALTIOK, Ender; URAN, Nedret et al.Journal of tropical pediatrics (1980). 2008, Vol 54, Num 3, pp 208-210, issn 0142-6338, 3 p.Article

A thematic review of scientific and family interests in Canavan Disease: where are the developmentalists?GLICKSMAN, S; BORGEN, C; BLACKSTEIN, M et al.JIDR. Journal of intellectual disability research (Print). 2013, Vol 57, pp 815-825, issn 0964-2633, 11 p., 9Article

Macrocéphalie avec dystonie révélant une maladie de Canavan = Megalencephaly with dystonia revealing Canavan diseaseMAALOUL, I; FOURATI, H; WALI, M et al.Archives de pédiatrie (Paris). 2013, Vol 20, Num 7, pp 783-786, issn 0929-693X, 4 p.Article

Aspartoacylase supports oxidative energy metabolism during myelinationFRANCIS, Jeremy S; STRANDE, Louise; MARKOV, Vladamir et al.Journal of cerebral blood flow and metabolism. 2012, Vol 32, Num 9, pp 1725-1736, issn 0271-678X, 12 p.Article

Glyceryl triacetate for Canavan disease: A low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat modelMADHAVARAO, C. N; ARUN, P; ANIKSTER, Y et al.Journal of inherited metabolic disease. 2009, Vol 32, Num 5, pp 640-650, issn 0141-8955, 11 p.Article

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