MRI findings of hypomyelination in adenylosuccinate lyase deficiency-Reference-Cited by-同舟云学术

MRI findings of hypomyelination in adenylosuccinate lyase deficiency

Published:2019-02 Issue:2 Volume:14 Page:255-259
ISSN:1930-0433
Container-title:Radiology Case Reports
language:en
Short-container-title:Radiology Case Reports

Author:

Kayfan Samar,Yazdani Rana M.,Castillo Samantha,Wong Kevin^ORCID,Miller Jeffrey H.,Pfeifer Cory M.^ORCID

Publisher

Elsevier BV

Subject

Radiology, Nuclear Medicine and imaging

Reference13 articles.

1. A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing;Macchiaiolo;Ital J Pediatr,2017

2. Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency—MRI, clinical, biochemical and neuropathological findings of Polish patients;Mierzewska;Folia Neuropathol,2009

3. Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature;Jurecka;Eur J Pediatr,2012

4. Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families;Mouchegh;J Pediatr,2007

5. Metabolic disorders of purine metabolism affecting the nervous system;Jinnah;Handb Clin Neurol,2013

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2. Respiratory Syncytial Virus–Associated Neurologic Complications in Children: A Systematic Review and Aggregated Case Series;The Journal of Pediatrics;2021-12

3. A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing;Clinical Neurology and Neurosurgery;2021-03

4. Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency;Orphanet Journal of Rare Diseases;2021-03-01