MYOPATHIES DUE TO ENZYME DEFICIENCIES

被引：50

作者：

CORNELIO, F ^{[1
]}

DIDONATO, S ^{[1
]}

机构：

[1] IST NEUROL C BESTA, NEUROMETAB DIS LAB, I-20133 MILAN, ITALY

来源：

JOURNAL OF NEUROLOGY | 1985年 / 232卷 / 06期

关键词：

D O I：

10.1007/BF00313831

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：329 / 340

页数：12

共 139 条

[1] MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY - 2 CASES WITH UNUSUAL POLYSACCHARIDE ACCUMULATION AND IMMUNOLOGICALLY ACTIVE ENZYME PROTEIN [J].

AGAMANOLIS, DP ;

ASKARI, AD ;

DIMAURO, S ;

HAYS, A ;

KUMAR, K ;

LIPTON, M ;

RAYNOR, A .

MUSCLE & NERVE, 1980, 3 (06) :456-467

[2]

ANGEL AG, 1984, EXPLORATORY CONCEPTS, V2, P601

[3] COMPARATIVE STUDY OF ACID MALTASE DEFICIENCY - BIOCHEMICAL DIFFERENCES BETWEEN INFANTILE, CHILDHOOD, AND ADULT TYPES [J].

ANGELINI, C ;

ENGEL, AG .

ARCHIVES OF NEUROLOGY, 1972, 26 (04) :344-+

[4] DISORDER OF MUSCLE LIPID-METABOLISM AND MYOGLOBINURIA - ABSENCE OF CARNITINE PALMITYL TRANSFERASE [J].

BANK, WJ ;

DIMAURO, S ;

BONILLA, E ;

CAPUZZI, DM ;

ROWLAND, LP .

NEW ENGLAND JOURNAL OF MEDICINE, 1975, 292 (09) :443-449

[5] STUDIES ON CARNITINE PALMITOYL TRANSFERASE - THE SIMILAR NATURE OF CPTI (INNER FORM) AND CPTO (OUTER FORM) [J].

BERGSTROM, JD ;

REITZ, RC .

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1980, 204 (01) :71-79

[6] ACID MALTASE DEFICIENCY IN ADULTS - CLINICAL, MORPHOLOGICAL AND BIOCHEMICAL STUDY OF 3 PATIENTS [J].

BERTAGNOLIO, B ;

DONATO, SD ;

PELUCHETTI, D ;

RIMOLDI, M ;

STORCHI, G ;

CORNELIO, F .

EUROPEAN NEUROLOGY, 1978, 17 (04) :193-204

[7] DISORDERS OF PYRUVATE METABOLISM [J].

BLASS, JP .

NEUROLOGY, 1979, 29 (03) :280-286

[8] ASSIGNMENT OF 3 HUMAN GENES TO CHROMOSOMES (LDH-A TO 11, TK TO 17, AND IDH TO 20) AND EVIDENCE FOR TRANSLOCATION BETWEEN HUMAN AND MOUSE CHROMOSOMES IN SOMATIC CELL HYBRIDS [J].

BOONE, C ;

CHEN, TR ;

RUDDLE, FH .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1972, 69 (02) :510-&

[9] FASTING HYPOGLYCEMIA RESULTING FROM HEPATIC CARNITINE PALMITOYL TRANSFERASE DEFICIENCY [J].

BOUGNERES, PF ;

SAUDUBRAY, JM ;

MARSAC, C ;

BERNARD, O ;

ODIEVRE, M ;

GIRARD, J .

JOURNAL OF PEDIATRICS, 1981, 98 (05) :742-746

[10] MITOCHONDRIAL CYTOCHROME DEFICIENCY PRESENTING AS A MYOPATHY WITH HYPOTONIA, EXTERNAL OPHTHALMOPLEGIA, AND LACTIC-ACIDOSIS IN AN INFANT AND AS FATAL HEPATOPATHY IN A 2ND COUSIN [J].

BOUSTANY, RN ;

APRILLE, JR ;

HALPERIN, J ;

LEVY, H ;

DELONG, GR .

ANNALS OF NEUROLOGY, 1983, 14 (04) :462-470

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