Hereditary metabolic diseases in adulthood;Les maladies hereditaires du metabolisme a l'age adulte

Revue de Medecine Interne

Volumn 19, Issue SUPPL. 3, 1998, Pages

  Saudubray, J M ^a   Nuoffer, J M ^a   De Lonlay, P ^a   Castelnau, P ^a   Touati, G ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CATABOLISM; CONFERENCE PAPER; DISEASE CLASSIFICATION; DISEASE PREDISPOSITION; GLYCOGENOLYSIS; HEREDITY; HUMAN; METABOLIC DISORDER; ADULT; AGE; GENETICS; INBORN ERROR OF METABOLISM; PATHOPHYSIOLOGY; REVIEW;

ADULT; AGE FACTORS; HUMANS; METABOLISM, INBORN ERRORS;

EID: 0032320431     PISSN: 02488663     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (10)

1. Saudubray JM, Charpentier C. Clinical phenotypes: diagnosis/algorithms. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New-York: McGraw-Hill; 1995. p 327-400
2. Smelt AHM, Poorthuis JH, Onkenhout W, Scholte HR, Andresen BS, Van Duinen SG et al. Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. Ann Neurol 1998 ; 43 : 540-4
3. Millington DS, Kodo N, Norwood DL, Roe CR. Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inher Metab Dis 1990 ; 13 : 321-4
4. Delolme F, Vianey-Saban C, Guffon N, Favre-Bonvin J, Guibaud P, Becchi M et al. Étude des acylcarnitines plasmatiques par spectrométrie de masse en tandem. Application au diagnostic des maladies héréditaires du métabolisme. Arch Pédiatr 1997 ; 4 : 819-26
5. Jaeken J, Stibler H, Hagberg B. The carbohydrate-deficient glycoprotein syndrome: a new inherited multisystemic disease with severe nervous system involvement. Acta Paediatr Scand 1991 ; 375 Suppl : 5-71
6. e éd. Paris : Médecine-Sciences Flammarion ; 1996. p 1521-60
7. Saudubray JM, Ogier de Baulny H, Charpentier C. Clinical approach to inherited metabolic diseases. In: Fernandes J, Saudubray JM, van den Berghe G, eds. Inborn Metabolic Diseases: diagnosis and treatment. Berlin: Springer-Verlag; 1995. p 3-39
8. Poggi F, Rabier D, Vassault A, Charpentier C, Kamoun P, Saudubray JM. Protocole d'investigations métaboliques dans les maladies héréditaires du métabolisme. Arch Pédiatr 1994 ; 1 : 667-73
9. Baumann N, Federico A, Suzuki K. Late onset neurometabolic genetic disorders. Dev Neurosci 1991 ; 13 : 185-376
10. Saudubray JM, Martin D, Poggi-Travert F, Charpentier C. Maladies héréditaires du métabolisme et grossesse. In : Pons G, Cabrol D, Tournaire M, eds. Les traitements médicamenteux du fœtus. Paris : Springer-Verlag ; 1995. p 193-211