NEONATAL ADRENOLEUKODYSTROPHY - NEW CASES, BIOCHEMICAL-STUDIES, AND DIFFERENTIATION FROM ZELLWEGER AND RELATED PEROXISOMAL POLYDYSTROPHY SYNDROMES

被引：173

作者：

KELLEY, RI

DATTA, NS

DOBYNS, WB

HAJRA, AK

MOSER, AB

NOETZEL, MJ

ZACKAI, EH

MOSER, HW

机构：

[1] CHILDRENS HOSP,DEPT BIOCHEM DEV & MOLEC DIS,PHILADELPHIA,PA 19104

[2] ST LOUIS CHILDRENS HOSP,IST BIRTH DEFECTS,ST LOUIS,MO 63178

[3] MED COLL WISCONSIN,DEPT NEUROL,MILWAUKEE,WI 53226

[4] MED COLL WISCONSIN,DEPT PEDIAT,MILWAUKEE,WI 53226

[5] UNIV MICHIGAN LAB,DEPT BIOL CHEM,ANN ARBOR,MI

[6] JOHN F KENNEDY INST HANDICAPPED CHILDREN,BALTIMORE,MD

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1986年 / 23卷 / 04期

关键词：

D O I：

10.1002/ajmg.1320230404

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：869 / 901

页数：33

共 79 条

[1] CEREBRO-HEPATO-RENAL SYNDROME - REPORT OF A CASE WITH HISTOCHEMICAL AND ULTRASTRUCTURAL OBSERVATIONS [J].

AGAMANOLIS, DP ;

ROBINSON, HB ;

TIMMONS, GD .

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1976, 35 (03) :226-246

[2]

ALVEDANO ML, 1983, JL RES, V24, P83

[3] ULTRASTRUCTURAL AND CYTOCHEMICAL DEMONSTRATION OF PEROXISOMES IN CULTURED FIBROBLASTS FROM PATIENTS WITH PEROXISOMAL DEFICIENCY DISORDERS [J].

ARIAS, JA ;

MOSER, AB ;

GOLDFISCHER, SL .

JOURNAL OF CELL BIOLOGY, 1985, 100 (05) :1789-1792

[4] HYPERPIPECOLIC ACIDEMIA - OCCURRENCE IN AN INFANT WITH CLINICAL FINDINGS OF THE CEREBROHEPATORENAL (ZELLWEGER) SYNDROME [J].

ARNESON, DW ;

TIPTON, RE ;

WARD, JC .

ARCHIVES OF NEUROLOGY, 1982, 39 (11) :713-716

[5] NEW FORM OF ADRENOLEUKODYSTROPHY [J].

BENKE, PJ ;

REYES, PF ;

PARKER, JC .

HUMAN GENETICS, 1981, 58 (02) :204-208

[6]

BERNSTEIN J, 1974, Birth Defects Original Article Series, V10, P35

[7]

BOLTSHAUSER E, 1982, EUR J PEDIATR, V139, P317

[8] ANIMAL PEROXISOMES (MICROBODIES), LIPID BIOSYNTHESIS AND THE ZELLWEGER SYNDROME [J].

BORST, P .

TRENDS IN BIOCHEMICAL SCIENCES, 1983, 8 (08) :269-272

[9]

BROWN FR, 1982, JOHNS HOPKINS MED J, V151, P344

[10] HYPERPIPECOLIC ACIDEMIA - CLINICAL AND BIOCHEMICAL OBSERVATIONS IN 2 MALE SIBLINGS [J].

BURTON, BK ;

REED, SP ;

REMY, WT .

JOURNAL OF PEDIATRICS, 1981, 99 (05) :729-734

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