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

被引：33

作者：

RICHTERICH, R

MOSER, H

ROSSI, E

机构：

来源：

HUMANGENETIK | 1965年 / 1卷 / 04期

关键词：

D O I：

10.1007/BF00273974

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：322 / 332

页数：11

共 52 条

[11]

FRANCESCHETTI A, 1947, Bull Schweiz Akad Med Wiss, V2, P321

[12] INFLUENCE OF VITAMIN-A DEFICIENCY ON THE BIOSYNTHESIS OF CHOLESTEROL, SQUALENE AND UBIQUINONE [J].

GLOOR, U ;

WISS, O .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1959, 1 (04) :182-185

[13]

GLOOR U, 1962, DRUGS AFFECTING LIPI, P80

[14] OPHTHALMOPLEGIA, ATAXIA, AND AREFLEXIA - FISHERS SYNDROME [J].

GOODWIN, RF ;

POSER, CM .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 1963, 186 (03) :258-&

[15] REFSUMS SYNDROME HEREDOPATHIA ATACTICA POLYNEURITIFORMIS - A REPORT OF 3 CASES, INCLUDING A STUDY OF THE CARDIAC PATHOLOGY [J].

GORDON, N ;

HUDSON, REB .

BRAIN, 1959, 82 (01) :41-&

[16]

HALLGREN BERTIL, 1959, A CLINICAL AND GENETICO STATISTICAL STUDY ACTA PSYCHIAT ET NEUROL SCAND, V34, P1

[17] HEREDOPATHIA ATACTICA POLYNEURITIFORMIS - KLINIK + DIAGNOSTIK REFSUM-SYNDROMS [J].

HARDERS, H ;

DIECKMANN, H .

DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT, 1964, 89 (06) :248-&

[18] PRESUMPTIVE X-LINKED INTERMEDIATE TRANSMISSION OF RETINAL DEGENERATIONS - VARIATIONS AND COI99NCIDENTAL OCCURRENCE WITH ATAXIA IN A LARGE FAMILY [J].

HECK, AF .

ARCHIVES OF OPHTHALMOLOGY, 1963, 70 (02) :143-+

[19] DIABETES MELLITUS IN A CHILD SHOWING FEATURES OF REFSUMS SYNDROME [J].

HEYCOCK, JB ;

WILSON, J .

ARCHIVES OF DISEASE IN CHILDHOOD, 1958, 33 (170) :320-322

[20]

HOOFT C, 1962, HELV PAEDIATR ACTA, V17, P1

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