In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency-Reference-Cited by-同舟云学术

In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency

Published:2010-02-19 Issue:5 Volume:23 Page:441-445
ISSN:0952-3480
Container-title:NMR in Biomedicine
language:en
Short-container-title:NMR Biomed.

Author:

Henneke M.,Dreha-Kulaczewski S.,Brockmann K.,van der Graaf M.,Willemsen M. A. A. P.,Engelke U.,Dechent P.,Heerschap A.,Helms G.,Wevers R. A.,Gärtner J.

Publisher

Wiley

Subject

Spectroscopy,Radiology Nuclear Medicine and imaging,Molecular Medicine

Reference19 articles.

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3. Adenylosuccinase deficiency: an unusual cause of early-onset epilepsy associated with acquired microcephaly;Nassogne;Brain Dev.,2000

4. Neurologic aspects of adenylosuccinate lyase deficiency;Ciardo;J. Child Neurol.,2001

5. Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency;Jurecka;Mol. Genet. Metab.,2008

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2. Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum;Molecular Genetics and Metabolism Reports;2016-09

3. Adenylosuccinate lyase deficiency;Journal of Inherited Metabolic Disease;2014-08-12

4. MRI and In Vivo Spectroscopy of the Brain;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2014

5. Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oralS-adenosyl-l-methionine as a treatment method;Developmental Medicine & Child Neurology;2013-08-13