BIOCHEMICAL-ABNORMALITIES IN RHIZOMELIC CHONDRODYSPLASIA PUNCTATA

[1] ASSAY OF THE MAJOR BILE-ACIDS IN SERUM BY ISOTOPE-DILUTION MASS-SPECTROMETRY [J]. SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION, 1983, 43 (02) : 163 - 170

[2] PEROXISOMAL BETA-OXIDATION ENZYME PROTEINS IN ADRENOLEUKODYSTROPHY - DISTINCTION BETWEEN X-LINKED ADRENOLEUKODYSTROPHY AND NEONATAL ADRENOLEUKODYSTROPHY [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (05) : 1425 - 1428

[3] Conradi, 1914, JB KINDERHEILK, V80, P86

[4] INHERITED CHONDRODYSPLASIA PUNCTATA DUE TO A DELETION OF THE TERMINAL SHORT ARM OF AN X-CHROMOSOME [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1984, 311 (16) : 1010 - 1015

[5] DANPURE CJ, 1987, LANCET, V1, P289

[6] DEFICIENCY OF ENZYMES CATALYZING THE BIOSYNTHESIS OF GLYCEROL ETHER LIPIDS IN ZELLWEGER SYNDROME - A NEW CATEGORY OF METABOLIC DISEASE INVOLVING THE ABSENCE OF PEROXISOMES [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1984, 311 (17) : 1080 - 1083

[7] Folch J, 1957, J BIOL CHEM, V226, P457

[8] PSEUDO-ZELLWEGER SYNDROME - DEFICIENCIES IN SEVERAL PEROXISOMAL OXIDATIVE ACTIVITIES [J]. JOURNAL OF PEDIATRICS, 1986, 108 (01) : 25 - 32

[9] PEROXISOMAL DEFECTS IN NEONATAL-ONSET AND X-LINKED ADRENOLEUKODYSTROPHIES [J]. SCIENCE, 1985, 227 (4682) : 67 - 70

[10] PREPARATION OF 131I-LABELLED HUMAN GROWTH HORMONE OF HIGH SPECIFIC RADIOACTIVITY [J]. BIOCHEMICAL JOURNAL, 1963, 89 (01) : 114 - &

[1] ASSAY OF THE MAJOR BILE-ACIDS IN SERUM BY ISOTOPE-DILUTION MASS-SPECTROMETRY [J]. SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION, 1983, 43 (02) : 163 - 170

[2] PEROXISOMAL BETA-OXIDATION ENZYME PROTEINS IN ADRENOLEUKODYSTROPHY - DISTINCTION BETWEEN X-LINKED ADRENOLEUKODYSTROPHY AND NEONATAL ADRENOLEUKODYSTROPHY [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (05) : 1425 - 1428

[3] Conradi, 1914, JB KINDERHEILK, V80, P86

[4] INHERITED CHONDRODYSPLASIA PUNCTATA DUE TO A DELETION OF THE TERMINAL SHORT ARM OF AN X-CHROMOSOME [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1984, 311 (16) : 1010 - 1015

[5] DANPURE CJ, 1987, LANCET, V1, P289

[6] DEFICIENCY OF ENZYMES CATALYZING THE BIOSYNTHESIS OF GLYCEROL ETHER LIPIDS IN ZELLWEGER SYNDROME - A NEW CATEGORY OF METABOLIC DISEASE INVOLVING THE ABSENCE OF PEROXISOMES [J]. NEW ENGLAND JOURNAL OF MEDICINE, 1984, 311 (17) : 1080 - 1083

[7] Folch J, 1957, J BIOL CHEM, V226, P457

[8] PSEUDO-ZELLWEGER SYNDROME - DEFICIENCIES IN SEVERAL PEROXISOMAL OXIDATIVE ACTIVITIES [J]. JOURNAL OF PEDIATRICS, 1986, 108 (01) : 25 - 32

[9] PEROXISOMAL DEFECTS IN NEONATAL-ONSET AND X-LINKED ADRENOLEUKODYSTROPHIES [J]. SCIENCE, 1985, 227 (4682) : 67 - 70

[10] PREPARATION OF 131I-LABELLED HUMAN GROWTH HORMONE OF HIGH SPECIFIC RADIOACTIVITY [J]. BIOCHEMICAL JOURNAL, 1963, 89 (01) : 114 - &