RHIZOMELIC CHONDRODYSPLASIA PUNCTATA - CLINICAL, PATHOLOGIC, AND BIOCHEMICAL FINDINGS IN 2 PATIENTS

被引:48
作者
POULOS, A
SHEFFIELD, L
SHARP, P
SHERWOOD, G
JOHNSON, D
BECKMAN, K
FELLENBERG, AJ
WRAITH, JE
CHOW, CW
USHER, S
SINGH, H
机构
[1] ROYAL CHILDRENS HOSP, DEPT ANAT PATHOL, PARKVILLE, VIC 3052, AUSTRALIA
[2] HOSP SICK CHILDREN, GENET METAB UNIT, TORONTO M5G 1X8, ONTARIO, CANADA
[3] MURDOCH INST, PARKVILLE, VIC, AUSTRALIA
关键词
D O I
10.1016/S0022-3476(88)80378-0
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:685 / 690
页数:6
相关论文
共 31 条
  • [1] ADRENOMYELONEUROPATHY - CLINICAL AND BIOCHEMICAL-DIAGNOSIS
    BERKOVIC, SF
    ZAJAC, JD
    WARBURTON, DJ
    MERORY, JR
    FELLENBERG, AJ
    POULOS, A
    POLLARD, AC
    [J]. AUSTRALIAN AND NEW ZEALAND JOURNAL OF MEDICINE, 1983, 13 (06): : 594 - 600
  • [2] MECHANISM OF ARREST OF NEURONAL MIGRATION IN ZELLWEGER MALFORMATION - HYPOTHESIS BASED UPON CYTOARCHITECTONIC ANALYSIS
    EVRARD, P
    CAVINESS, VS
    PRATSVINAS, J
    LYON, G
    [J]. ACTA NEUROPATHOLOGICA, 1978, 41 (02) : 109 - 117
  • [3] FOLCH J, 1957, J BIOL CHEM, V226, P497
  • [4] CHONDRODYSPLASIA PUNCTATA - RHIZOMELIC FORM - PATHOLOGIC AND RADIOLOGIC STUDIES OF 3 INFANTS
    GILBERT, EF
    OPITZ, JM
    SPRANGER, JW
    LANGER, LO
    WOLFSON, JJ
    VISESKUL, C
    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 1976, 123 (02) : 89 - 109
  • [5] PSEUDO-ZELLWEGER SYNDROME - DEFICIENCIES IN SEVERAL PEROXISOMAL OXIDATIVE ACTIVITIES
    GOLDFISCHER, S
    COLLINS, J
    RAPIN, I
    NEUMANN, P
    NEGLIA, W
    SPIRO, AJ
    ISHII, T
    ROELS, F
    VAMECQ, J
    VANHOOF, F
    [J]. JOURNAL OF PEDIATRICS, 1986, 108 (01) : 25 - 32
  • [6] PEROXISOMAL AND MITOCHONDRIAL DEFECTS IN CEREBRO-HEPATO-RENAL SYNDROME
    GOLDFISCHER, S
    MOORE, CL
    JOHNSON, AB
    SPIRO, AJ
    VALSAMIS, MP
    WISNIEWSKI, HK
    RITCH, RH
    NORTON, WT
    RAPIN, I
    GARTNER, LM
    [J]. SCIENCE, 1973, 182 (4107) : 62 - 64
  • [7] PEROXISOMAL DEFECTS IN NEONATAL-ONSET AND X-LINKED ADRENOLEUKODYSTROPHIES
    GOLDFISCHER, S
    COLLINS, J
    RAPIN, I
    COLTOFFSCHILLER, B
    CHANG, CH
    NIGRO, M
    BLACK, VH
    JAVITT, NB
    MOSER, HW
    LAZAROW, PB
    [J]. SCIENCE, 1985, 227 (4682) : 67 - 70
  • [8] GOLDFISCHER S, 1984, INT REV EXP PATHOL, V26, P45
  • [9] HAJRA AK, 1979, J BIOL CHEM, V254, P896
  • [10] PEROXISOMAL ABNORMALITIES IN RHIZOMELIC CHONDRODYSPLASIA PUNCTATA
    HEYMANS, HSA
    OORTHUYS, JWE
    NELCK, G
    WANDERS, RJA
    DINGEMANS, KP
    SCHUTGENS, RBH
    [J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1986, 9 : 329 - 331