Molecular and neurologic findings of peroxisome biogenesis disorders

Journal of Child Neurology

Volumn 20, Issue 4, 2005, Pages 326-329

  Shimozawa, Nobuyuki ^a,b   Nagase, Tomoko ^b   Takemoto, Yasuhiko ^b   Funato, Michinori ^b   Kondo, Naomi ^b   Suzuki, Yasuyuki ^b  

^a GIFU UNIVERSITY   (Japan)

^b GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADRENOLEUKODYSTROPHY; BIOGENESIS; CHILD; CHONDRODYSPLASIA PUNCTATA; CLINICAL FEATURE; DIAGNOSTIC TEST; DISORDERS OF PEROXISOMAL FUNCTIONS; ENZYME DEFICIENCY; GENE IDENTIFICATION; GENE MUTATION; GENETIC COMPLEMENTATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENOTYPE; HEALTH CARE FACILITY; HUMAN; JAPAN; MOLECULAR GENETICS; NEUROLOGIC DISEASE; PHENOTYPE; PRIORITY JOURNAL; REFSUM DISEASE; REVIEW; ZELLWEGER SYNDROME;

EID: 20044367286     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738050200041001     Document Type: Review

References (13)

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2. Wanders RJA, Barth PG, Heymans HS: Single peroxisomal enzyme deficiencies, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Basis of Inherited Disease. New York, McGraw-Hill, 2001, 3219-3256.
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12. Shimozawa N, Suzuki Y, Zhang Z, et al: Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. Hum Mol Genet 1999;8:1077-1083.
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