IDENTIFICATION OF HETEROZYGOUS CARRIERS OF LIPID STORAGE DISEASES - CURRENT STATUS AND CLINICAL APPLICATIONS

被引：80

作者：

BRADY, RO

JOHNSON, WG

UHLENDORF, BW

机构：

来源：

AMERICAN JOURNAL OF MEDICINE | 1971年 / 51卷 / 04期

关键词：

D O I：

10.1016/0002-9343(71)90249-X

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

收藏

页码：423 / +

页数：1

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[1] A PEDIGREE STUDY OF METACHROMATIC LEUKODYSTROPHY . BIOCHEMICAL IDENTIFICATION OF CARRIER STATE
BASS, NH
WITMER, EJ
DREIFUSS, FE
[J]. NEUROLOGY, 1970, 20 (01) : 52 - &
[2] BEUTLER E, 1970, J LAB CLIN MED, V76, P747
[3] ENZYMATIC DEFECT IN FABRYS DISEASE - CERAMIDETRIHEXOSIDASE DEFICIENCY
BRADY, RO
GAL, AE
BRADLEY, RM
MARTENSS.E
WARSHAW, AL
LASTER, L
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1967, 276 (21) : 1163 - &
[4] SPHINGOLIPID HYDROLASES IN BRAIN TISSUE OF PATIENTS WITH GENERALIZED GANG-LIODOSIS
BRADY, RO
OBRIEN, JS
BRADLEY, RM
GAL, AE
[J]. BIOCHIMICA ET BIOPHYSICA ACTA, 1970, 210 (01) : 193 - &
[5] FABRYS DISEASE - ANTENATAL DETECTION
BRADY, RO
UHLENDORF, BW
JACOBSON, CB
[J]. SCIENCE, 1971, 172 (3979) : 174 - +
[6] METABOLISM OF GLUCOCEREBROSIDES .2. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHERS DISEASE
BRADY, RO
KANFER, JN
SHAPIRO, D
[J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1965, 18 (02) : 221 - &
[7] DEMONSTRATION OF A DEFICIENCY OF GLUCOCEREBROSIDE-CLEAVING ENZYME IN GAUCHERS DISEASE
BRADY, RO
KANFER, JN
BRADLEY, RM
SHAPIRO, D
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1966, 45 (07) : 1112 - &
[8] METABOLISM OF SPHINGOMYELIN .2. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN NIEMANN-PICK DISEASE
BRADY, RO
KANFER, JN
MOCK, MB
FREDRICKSON, DS
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1966, 55 (02) : 366 - +
[9] BRADY RO, 1970, CLIN CHEM, V16, P811
[10] BRADY RO, IN PRESS

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