Hereditary metabolic causes of stroke;Stroke et pseudo-stroke d'origine héréditaire métabolique à l'âge adulte

Revue de Medecine Interne

Volumn 22, Issue SUPPL. 3, 2001, Pages

  Nassogne, M C ^a   Touati, G ^a   Beyler, C ^a   Saudubray, J M ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Genetic; Metabolic diseases; Stroke

Indexed keywords

CARBOXYLIC ACID DERIVATIVE; HOMOCYSTEINE;

ACIDURIA; ADULT; ARTICLE; CASE REPORT; FABRY DISEASE; FEMALE; GENETIC DISORDER; GLYCOSYLATION; HUMAN; MALE; METABOLIC DISORDER; MITOCHONDRIAL RESPIRATION; PATHOGENESIS; STROKE; UREA CYCLE; VASCULAR DISEASE;

ADULT; AMINO ACID METABOLISM, INBORN ERRORS; CEREBROVASCULAR ACCIDENT; FABRY DISEASE; HOMOCYSTEINE; HUMANS; METABOLISM, INBORN ERRORS; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS;

EID: 0035657487     PISSN: 02488663     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (29)

1. Mécanismes et causes des accidents ischémiques cérébraux
2. Advances in the genetics of cerebrovascular disease and stroke
3. Cerebral infarction in 5 young adults: The Baltimore-Washington Cooperative Young Stroke Study
4. Les maladies héréditaires du métabolisme à l'âge adulte
5. Disorders of sulfur amino metabolism
6. The natural history of homocystinuria due to cystathionine-β-synthase deficiency
7. Putative mechanisms for vascular damage by homocysteine
8. The natural history of vascular disease in homocystinuria and the effects of treatment
9. Homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency revealed by stroke in adult siblings
10. Plasma homocysteine as a risk factor for vascular disease. The European Concerted Action Project
11. The case for mild hyperhomocysteinaemia as a risk factor
12. Clinical features of and recent advances in therapy for Fabry disease
13. α-galactosidase deficiency: Fabry disease
14. Safety and efficacy of recombinant human alpha-galactosidase A-replacement therapy in Fabry's disease
15. Disorders of the urea cycle
16. Urea cycle disorders: Diagnosis, pathophysiology, and therapy
17. Heterogeneity of patients with late onset ornithine transcarbamylase deficiency
18. Branched-chain organic acidurias
19. Disorders of propionate and methylmalonate metabolism
20. Adult-onset chorea and dementia with propionic acidemia
21. The use of automated electrospray ionization tandem MS for the diagnosis of inborn errors of metabolism from dried blood spots
22. What is new in congenital disorders of glycosylation?
23. Congenital defects of Glycosylation: Disorders of N-glycan synthesis
24. Syndrome d'hypoglycosylation des glycoprotéines sériques
25. Congenital disorders of glycosylation: Genetic model systems lead the way
26. Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein symptom
27. Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease