Een pasgeborene met een zeldzame oorzaak van cholestase: een peroxisomale ziekte

Tijdschrift voor Kindergeneeskunde - Tập 72 Số 5 - Trang 211-215 - 2004
Merit M. Tabbers1, Anne A. M. W. van Kempen2, Mansur Duran3, Mariana Elisa Loreto Brand, D. K. Bosman4, Ronald J. A. Wanders5, B. T. Poll-Thé5
1Amsterdam Gastroenterology Endocrinology Metabolism
2Neonatology
3Laboratory Genetic Metabolic Diseases
4General Paediatrics
5Paediatric Metabolic Diseases

Tóm tắt

Từ khóa


Tài liệu tham khảo

Balistreri WF. Manifestations of liver disease and cholestasis. In: Nelson WE, Behrman RE, et al. eds. Textbook of pediatrics, 16th ed. Philadelphia: Saunders, 1996. p. 1198-1208.

Jansen PLM, Müller M, Sturm E. Genes and cholestasis. Hepatology 2001 ;34 :1067-74.

McKiernan PJ. Neonatal cholestasis. Semin Neonatol 2002;7:153-65.

Poll-The BT, Saudubray J-M. Peroxisomal disorders. In: Fernandes J, Saudubray J-M, et al. eds. Inborn metabolic diseases. Diagnosis and treatment, 3rd ed. Heidelberg: Springer, 2000. p. 423-31.

Gartner J. Organelle disease: peroxisomal disorders. Eur J Pediatr 2000;159(suppl 3):S236-9.

Wanders RJA, Barth PG, Poll-The BT. Peroxisomal disorders. In: Blau N, Duran M, Blaskovics ME, Gibson KM, eds. Physician's guide to the laboratory diagnosis of metabolic diseases, 2nd ed. Heidelberg: Springer, 2003. p. 481-508.

Baumgartner MR, Poll-The BT, et al. Clinical approach to inherited peroxisomal disorders: a serie of 27 patients. Ann Neurol 1998:44;720-30.