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https://hdl.handle.net/2440/7629
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Type: | Journal article |
Title: | Peroxisomal assembly defects : Clinical, pathological and biochemical findings in two patients belonging to a newly identified complementation group |
Author: | Poulos, A. Christodoulou, J. Chow, C. Goldblatt, J. Paton, B. Orii, T. Suzuki, Y. Shimozawa, N. |
Citation: | Journal of Pediatrics, 1995; 127(4):596-599 |
Publisher: | C. V. Mosby |
Issue Date: | 1995 |
ISSN: | 0022-3476 1097-6833 |
Statement of Responsibility: | Alfred Poulos, John Christodoulou, Chung W. Chow, Jack Goldblatt, Barbara C. Paton, Tadao Orii, Yasuyuki Suzuki and Nobuyuki Shimozawa |
Abstract: | 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. |
Keywords: | Microbodies Fibroblasts Plasma Humans Zellweger Syndrome Peroxisomal Disorders Catalase Cell Fusion Genetic Complementation Test Consanguinity Phenotype Infant Infant, Newborn Male |
Description: | Copyright © 1995 Mosby, Inc. |
DOI: | 10.1016/S0022-3476(95)70121-4 |
Published version: | http://dx.doi.org/10.1016/s0022-3476(95)70121-4 |
Appears in Collections: | Aurora harvest 4 Paediatrics publications |
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