PLASMA AND SKIN FIBROBLAST-C26 FATTY-ACIDS IN INFANTILE REFSUMS DISEASE

[11] ENZYMOLOGICAL DIAGNOSIS OF A GROUP OF LYSOSOMAL STORAGE DISEASES - REVIEW OF 5-YEAR EXPERIENCE OF 1600 PATIENT-SAMPLE REFERRALS [J]. MEDICAL JOURNAL OF AUSTRALIA, 1980, 2 (10) : 549 - 553

[12] PATTERNS OF REFSUMS DISEASE - PHYTANIC ACID OXIDASE DEFICIENCY [J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1984, 59 (03) : 222 - 229

[13] POULOS A, 1981, CLIN GENET, V20, P247

[14] REFSUM S, 1975, HDB CLINICAL NEUROLO, V21, P181

[15] INFANTILE PHYTANIC ACID STORAGE DISEASE, A POSSIBLE VARIANT OF REFSUMS DISEASE - 3 CASES, INCLUDING ULTRASTRUCTURAL STUDIES OF THE LIVER [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1982, 5 (02) : 83 - 90

[16] FURTHER CHARACTERIZATION OF THE HEAT-STABLE FACTOR IN THE ALPHA-HYDROXYLATION AND OXIDATION OF LIGNOCERIC ACID IN BRAIN - EFFECT OF ACIDIC AMINO-ACIDS AND HEXOSE-PHOSPHATES ON BRAIN FATTY-ACID METABOLISM [J]. ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1983, 223 (01) : 95 - 106

[17] REFSUMS DISEASE - NATURE OF ENZYME DEFECT [J]. SCIENCE, 1967, 156 (3783) : 1740 - +

[18] Steinberg D., 1978, METABOLIC BASIS INHE, P688

[19] METABOLIC PATHWAYS IN PEROXISOMES AND GLYOXYSOMES [J]. ANNUAL REVIEW OF BIOCHEMISTRY, 1981, 50 : 133 - 157

[20] TSAI SC, 1969, J BIOL CHEM, V244, P2682

[11] ENZYMOLOGICAL DIAGNOSIS OF A GROUP OF LYSOSOMAL STORAGE DISEASES - REVIEW OF 5-YEAR EXPERIENCE OF 1600 PATIENT-SAMPLE REFERRALS [J]. MEDICAL JOURNAL OF AUSTRALIA, 1980, 2 (10) : 549 - 553

[12] PATTERNS OF REFSUMS DISEASE - PHYTANIC ACID OXIDASE DEFICIENCY [J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1984, 59 (03) : 222 - 229

[13] POULOS A, 1981, CLIN GENET, V20, P247

[14] REFSUM S, 1975, HDB CLINICAL NEUROLO, V21, P181

[15] INFANTILE PHYTANIC ACID STORAGE DISEASE, A POSSIBLE VARIANT OF REFSUMS DISEASE - 3 CASES, INCLUDING ULTRASTRUCTURAL STUDIES OF THE LIVER [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1982, 5 (02) : 83 - 90

[16] FURTHER CHARACTERIZATION OF THE HEAT-STABLE FACTOR IN THE ALPHA-HYDROXYLATION AND OXIDATION OF LIGNOCERIC ACID IN BRAIN - EFFECT OF ACIDIC AMINO-ACIDS AND HEXOSE-PHOSPHATES ON BRAIN FATTY-ACID METABOLISM [J]. ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1983, 223 (01) : 95 - 106

[17] REFSUMS DISEASE - NATURE OF ENZYME DEFECT [J]. SCIENCE, 1967, 156 (3783) : 1740 - +

[18] Steinberg D., 1978, METABOLIC BASIS INHE, P688

[19] METABOLIC PATHWAYS IN PEROXISOMES AND GLYOXYSOMES [J]. ANNUAL REVIEW OF BIOCHEMISTRY, 1981, 50 : 133 - 157

[20] TSAI SC, 1969, J BIOL CHEM, V244, P2682