SKELETAL ABNORMALITIES IN REFSUMS DISEASE (HEREDOPATHIA-ATACTICA-POLYNEURITIFORMIS)

被引：15

作者：

PLANT, GR

HANSELL, DM

GIBBERD, FB

SIDEY, MC

机构：

[1] WESTMINSTER MED SCH & HOSP,DEPT RADIOL,DEAN RYLE ST,HORSEFERRY RD,LONDON SW1P 2AP,ENGLAND

[2] WESTMINSTER MED SCH & HOSP,DEPT NEUROL,LONDON SW1P 2AP,ENGLAND

来源：

BRITISH JOURNAL OF RADIOLOGY | 1990年 / 63卷 / 751期

关键词：

D O I：

10.1259/0007-1285-63-751-537

中图分类号：

R8 [特种医学]; R445 [影像诊断学];

学科分类号：

1002 ; 100207 ; 1009 ;

摘要：

Refsum's disease is a rare inborn error of phytanic acid metabolism in which skeletal abnormalities are part of the clinical syndrome. The reported incidence of bone changes in patients with Refsum's disease varies widely and reflects the small series published to date. An analysis of the skeletal abnormalities of the largest series of patients in the world is presented.

引用

页码：537 / 541

页数：5

共 13 条

[1] NATURAL HISTORY OF REFSUMS SYNDROME IN A GLOUCESTERSHIRE FAMILY [J].

CAMPBELL, AM ;

WILLIAMS, ER .

BRITISH MEDICAL JOURNAL, 1967, 3 (5568) :777-&

[2]

FLAMENTDURAND J, 1971, PATHOL EUR, V6, P172

[3] REFSUMS DISEASE - CLINICAL AND PATHOLOGICAL REPORT [J].

FRYER, DG ;

WINCKLEMAN, AC ;

WAYS, PO ;

SWANSON, AG .

NEUROLOGY, 1971, 21 (02) :162-+

[4]

GIBBERD FB, 1985, ACTA NEUROL SCAND, V72, P1

[5] REFSUMS SYNDROME HEREDOPATHIA ATACTICA POLYNEURITIFORMIS [J].

NEVIN, NC ;

CUMINGS, JN ;

MCKEOWN, F .

BRAIN, 1967, 90 :419-&

[6] REFSUMS DISEASE - A DISORDER OF LIPID METABOLISM [J].

RAKE, M ;

SAUNDERS, M .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1966, 29 (05) :417-&

[7]

REFSUM S, 1945, NORD MED, V28, P2682

[8]

REFSUM S, 1975, HDB CLINICAL NEUROLO, V21, P181

[9] REFSUMS DISEASE (HEREDOPATHIA-ATACTICA-POLYNEURITIFORMIS) - AN INBORN ERROR OF LIPID-METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYLHEXADECANOIC ACID - A REVIEW OF THE CLINICAL-FINDINGS [J].

RICHTERICH, R ;

MOSER, H ;

ROSSI, E .

HUMANGENETIK, 1965, 1 (04) :322-332

[10]

SKRE H, 1969, 2ND P INT C NEUR NEU, P710

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