Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency (original) (raw)
Novel MRI and clinical findings in a boy with adenylosuccinate lyase deficiency
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European Journal of Radiology Extra, 2009
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Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of Polish patients
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Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences, 2009
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Patrick Edery
American Journal of Medical Genetics, 2003
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Molecular Genetics and Metabolism, 2006
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Veronica Perez Gonzalez
European Journal of Paediatric Neurology, 2012
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Meow-Keong Thong
Journal of Inherited Metabolic Disease, 2010
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Clinical, biochemical, neuropathological and molecular findings of the first Polish case of adenylosuccinase deficiency
Elzbieta Jurkiewicz
Folia neuropathologica / Association of Polish Neuropathologists and Medical Research Centre, Polish Academy of Sciences, 2008
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Vassili Valayannopoulos
European Journal of Human Genetics, 2009
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Christine Saint-martin
Brain and Development, 2000
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Myoclonic tremor status as a presenting symptom of adenylosuccinate lyase deficiency
Tally Lerman-Sagie
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Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines
Xiaoting Zhou
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Inhibition of defective adenylosuccinate lyase by HNE: A neurological disease that may be affected by oxidative stress
Simonetta Soro
BioFactors, 2005
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Blanka Stiburkova, Marie Zikanova
Human Molecular Genetics, 2000
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Failure of muscle energy metabolism in a patient with adenylosuccinate lyase deficiency
Raffaele Lodi
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1997
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Effect of d-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency
Paola Iannetti
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1999
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Molecular Genetics and Metabolism Reports, 2016
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The American Journal of Human Genetics, 2004
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Therapeutics and Clinical Risk Management, 2018
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Ernst Martin
Pediatric Research, 2005
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Babak Behnam
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Maria Dzhus
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Richard Sabina
Handbook of clinical neurology, 2013
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S. Rahman
Developmental Medicine & Child Neurology, 2013
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Arrested cerebral adrenoleukodystrophy: A clinical and proton magnetic resonance spectroscopy study in three patients
Jens Frahm
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Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene
Irene Toldo
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Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis
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LetÃcia Santos
Brain & Development, 2010
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