Literature DB >> 6170906

CT findings in a case of deficiency of 3-hydroxy-3-methylglutaryl-CoA-lyase.

G Lisson, D Leupold, D Bechinger, C Wallesch.   

Abstract

Two CT scans have been performed on a child with a biochemically confirmed 3-HMG-CoA-lyase deficiency. Macrocephalus, widespread hypodensity of the white matter with cystic alterations and progressive dilatation of the ventricles were found. The clinical features and CT findings are surprisingly similar to findings in patients with spongy degeneration (Canavan).

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Year:  1981        PMID： 6170906     DOI： 10.1007/BF00344781

Source DB:  PubMed          Journal:  Neuroradiology        ISSN： 0028-3940            Impact factor:   2.804


  17 in total

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  8 in total

Review 1.  Biochemistry and molecular biology of Canavan disease.

Authors:  R Matalon; K Michals-Matalon
Journal:  Neurochem Res       Date:  1999-04       Impact factor: 3.996

Review 2.  3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients.

Authors:  K M Gibson; J Breuer; W L Nyhan
Journal:  Eur J Pediatr       Date:  1988-12       Impact factor: 3.183

3.  Cerebral MRI in 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report.

Authors:  N J Ferris; R D Tien
Journal:  Neuroradiology       Date:  1993       Impact factor: 2.804

4.  The value of CT in diagnosis and prognosis of different inborn neurodegenerative disorders in childhood.

Authors:  S Wende; B Ludwig; T Kishikawa; M Rochel; J Gehler
Journal:  J Neurol       Date:  1984       Impact factor: 4.849

5.  3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia.

Authors:  P T Ozand; A al Aqeel; G Gascon; J Brismar; E Thomas; H Gleispach
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982

6.  3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: initial presentation in a young adult.

Authors:  S Reimão; C Morgado; I T Almeida; M Silva; H Corte Real; J Campos
Journal:  J Inherit Metab Dis       Date:  2009-02-24       Impact factor: 4.982

7.  Molecular basis of 3-hydroxy-3-methylglutaric aciduria.

Authors:  J Pie; N Casals; B Puisac; F G Hegardt
Journal:  J Physiol Biochem       Date:  2003-12       Impact factor: 4.158

8.  3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.

Authors:  Sarah C Grünert; Jörn Oliver Sass
Journal:  Orphanet J Rare Dis       Date:  2020-02-14       Impact factor: 4.123
  8 in total

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