CLINICOPATHOLOGIC CONFERENCE - A 3-MONTH-OLD INFANT WITH FAILURE TO THRIVE, HEPATOMEGALY, AND NEUROLOGICAL IMPAIRMENT

被引：9

作者：

FRIEDMAN, A

BETHZHOLD, J

HONG, R

GILBERT, EF

VISESKUL, C

OPITZ, JM

机构：

[1] UNIV WISCONSIN, CTR HLTH SCI, DEPT PATHOL, MADISON, WI 53792 USA

[2] UNIV WISCONSIN, CTR HLTH SCI, DEPT MED GENET, MADISON, WI 53792 USA

[3] UNIV WISCONSIN, SCH MED, MADISON, WI 53792 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1980年 / 7卷 / 02期

关键词：

D O I：

10.1002/ajmg.1320070210

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：171 / 186

页数：16

共 37 条

[11]

GARZULY F, 1974, NEUROPADIATRIE, V5, P318, DOI 10.1055/s-0028-1091711

[12]

GILCHRIST KW, 1974, LANCET, V1, P164

[13] STUDIES OF MALFORMATION SYNDROMES OF MAN XIB - CEREBRO-HEPATO-RENAL SYNDROME OF ZELLWEGER - COMPARATIVE PATHOLOGY [J].

GILCHRIST, KW ;

GILBERT, EF ;

GOLDFARB, S ;

GOLL, U ;

SPRANGER, JW ;

OPITZ, JM .

EUROPEAN JOURNAL OF PEDIATRICS, 1976, 121 (02) :99-118

[14]

GILCHRIST KW, 1975, CLIN GENET, V7, P413

[15] PEROXISOMAL AND MITOCHONDRIAL DEFECTS IN CEREBRO-HEPATO-RENAL SYNDROME [J].

GOLDFISCHER, S ;

MOORE, CL ;

JOHNSON, AB ;

SPIRO, AJ ;

VALSAMIS, MP ;

WISNIEWSKI, HK ;

RITCH, RH ;

NORTON, WT ;

RAPIN, I ;

GARTNER, LM .

SCIENCE, 1973, 182 (4107) :62-64

[16] DEFECTS OF BILE-ACID SYNTHESIS IN ZELLWEGER SYNDROME [J].

HANSON, RF ;

SZCZEPANIKVANLEEUWEN, P ;

WILLIAMS, GC ;

GRABOWSKI, G ;

SHARP, HL .

SCIENCE, 1979, 203 (4385) :1107-1108

[17] CEREBRO-HEPATO-RENAL SYNDROME OF ZELLWEGER [J].

JAN, JE ;

HARDWICK, DF ;

LOWRY, RB ;

MCCORMICK, AQ .

AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1970, 119 (03) :274-+

[18]

KOHN R, 1969, HELV PAEDIATR ACTA, V24, P352

[19] DISTURBANCES IN BILE-ACID METABOLISM OF INFANTS WITH THE ZELLWEGER (CEREBRO-HEPATO-RENAL) SYNDROME [J].

MONNENS, L ;

BAKKEREN, J ;

PARMENTIER, G ;

JANSSEN, G ;

VANHAELST, U ;

TRIJBELS, F ;

EYSSEN, H .

EUROPEAN JOURNAL OF PEDIATRICS, 1980, 133 (01) :31-35

[20]

OPITZ J M, 1969, Birth Defects Original Article Series, V5, P144

← 1 2 3 4 →