MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata

American Journal of Neuroradiology

Volumn 23, Issue 3, 2002, Pages 480-483

  Viola, Angèle ^a   Confort Gouny, Sylviane ^a   Ranjeva, Jean Philippe ^a   Chabrol, Brigitte ^a   Raybaud, Charles ^a   Vintila, Francisca ^a   Cozzone, Patrick J ^a  

^a University of Aix Marseille   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACETIC ACID; CHOLINE; DIHYDROXYACETONE PHOSPHATE ACYLTRANSFERASE; INOSITOL; LIPID; PLASMALOGEN;

ARTICLE; BRAIN METABOLISM; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; CLINICAL FEATURE; DIAGNOSTIC IMAGING; DIAGNOSTIC PROCEDURE; DISEASE COURSE; HUMAN; MALE; METABOLIC DISORDER; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PROTON NUCLEAR MAGNETIC RESONANCE; WHITE MATTER;

ACYLTRANSFERASES; BRAIN; CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; PLASMALOGENS;

EID: 0036130407     PISSN: 01956108     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

1. Peroxisomal disorders: Genotype, phenotype, major neuropathologic lesions and pathogenesis
2. Peroxisomal disorders: Clinical, biochemical and molecular aspects
3. Proton NMR spectroscopy of cerebral metabolic alterations in infantile peroxisomal disorders
4. Cranial MR imaging in rhizomelic chondrodysplasia punctata
5. Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency)
6. The MR spectrum of peroxisomal disorder
7. Rhizomelic chondrodysplasia punctata: 16-Year follow-up of a child from birth
8. Development of the human brain: In vivo quantification of metabolite and water content with proton magnetic resonance spectroscopy
9. Clinical for the 90s: Magnetic resonance spectroscopy and metabolite imaging
10. Magnetic resonance techniques in the evaluation of the newborn brain
11. Metabolic and destructive brain disorders in children: Findings with localized proton MR spectroscopy
12. Experimental protocol for clinical analysis of cerebrospinal fluid by high resolution proton magnetic resonance spectroscopy
13. Quantitative proton magnetic resonance spectroscopy of childhood adrenoleukodystrophy
14. Localised proton magnetic resonance spectroscopy in X-linked adrenoleukodystrophy
15. Dihydroxyacetone phosphate acyltransferase
16. Fatty alcohol accumulation in the autosomal recessive form of rhizomelic chondrodysplasia punctata
17. Energy metabolism in developing brain cells
18. Postnatal decrease of acetate concentration in rat cerebellum
19. Fatty acid oxidation and ketogenesis by astrocytes in primary culture