PEROXISOMAL ASSEMBLY DEFECTS - CLINICAL, PATHOLOGICAL, AND BIOCHEMICAL FINDINGS IN 2 PATIENTS IN A NEWLY IDENTIFIED COMPLEMENTATION GROUP

Autor:	POULOS, A, CHRISTODOULOU, J, CHOW, CW, GOLDBLATT, J, PATON, BC, ORII, T, SUZUKI, Y, SHIMOZAWA, N
Přispěvatelé:	University of Groningen
Jazyk:	angličtina
Rok vydání:	1995
Předmět:	DEFICIENT DISORDERS CELLS ACID food and beverages ZELLWEGER SYNDROME GENE
Zdroj:	Journal of Pediatrics, 127(4), 596-599. MOSBY-ELSEVIER
ISSN:	0022-3476
Popis:	We describe the clinical, pathologic, and biochemical findings for two peroxisome-deficient patients in a newly identified complementation group, Both patients had biochemical findings typical of patients with peroxisome biogenesis disorders, However, whereas one patient had the typical clinicopathologic features of Zellweger syndrome, the other patient's phenotype was atypical.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=narcis______::927a8e690cc622381375c703c446d060 https://research.rug.nl/en/publications/688b67d5-201d-45e8-a91a-b3aae6ab99a0 Zobrazit plný text záznamu Full Text from ScienceDirect