MULTIPLE ACYL-COA DEHYDROGENASE-DEFICIENCY OCCURRING IN PREGNANCY AND CAUSED BY A DEFECT IN RIBOFLAVIN METABOLISM IN THE MOTHER - STUDY OF A KINDRED WITH 7 DEATHS IN INFANCY - VALUE OF RIBOFLAVIN THERAPY IN PREVENTING THIS SYNDROME

被引：36

作者：

HARPEY, JP

CHARPENTIER, C

GOODMAN, SI

DARBOIS, Y

LEFEBVRE, G

SEBBAH, J

机构：

[1] HOP BICETRE, BIOCHIM LAB, F-94270 KREMLIN BICETRE, FRANCE

[2] HOP BICHAT, HEMATOL & IMMUNOL BIOL LAB, F-75877 PARIS 18, FRANCE

[3] UNIV COLORADO, HLTH SCI CTR, DEPT PEDIAT, DENVER, CO 80220 USA

[4] HOP BICHAT, MATERNITE HOSP PITIE, F-75877 PARIS 18, FRANCE

来源：

JOURNAL OF PEDIATRICS | 1983年 / 103卷 / 03期

关键词：

D O I：

10.1016/S0022-3476(83)80410-7

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：394 / 398

页数：5

共 22 条

[1] PRENATAL THERAPY OF A PATIENT WITH VITAMIN-B12-RESPONSIVE METHYLMALONIC ACIDEMIA
AMPOLA, MG
MAHONEY, MJ
NAKAMURA, E
TANAKA, K
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1975, 293 (07) : 313 - 317
[2] Beutler E., 1975, RED CELL METABOLISM, P69
[3] COUDE FX, 1981, HUM GENET, V59, P263
[4] 3-HYDROXY-3-METHYLGLUTARYL COENZYME-A LYASE DEFICIENCY - POSTNATAL MANAGEMENT FOLLOWING PRENATAL DIAGNOSIS BY ANALYSIS OF MATERNAL URINE
DURAN, M
SCHUTGENS, RBH
KETEL, A
HEYMANS, H
BERNTSSEN, MWJ
KETTING, D
WADMAN, SK
[J]. JOURNAL OF PEDIATRICS, 1979, 95 (06) : 1004 - 1007
[5] RECURRENT HYPOGLYCEMIA ASSOCIATED WITH GLUTARIC ACIDURIA TYPE-II IN AN ADULT
DUSHEIKO, G
KEW, MC
JOFFE, BI
LEWIN, JR
MANTAGOS, S
TANAKA, K
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1979, 301 (26) : 1405 - 1409
[6] ORGANIC ACIDURIA IN THE RIBOFLAVIN-DEFICIENT RAT
GOODMAN, SI
[J]. AMERICAN JOURNAL OF CLINICAL NUTRITION, 1981, 34 (11) : 2434 - 2437
[7] GLUTARIC ACIDEMIA TYPE-II - CLINICAL, BIOCHEMICAL, AND MORPHOLOGIC CONSIDERATIONS
GOODMAN, SI
STENE, DO
MCCABE, ERB
NORENBERG, MD
SHIKES, RH
STUMPF, DA
BLACKBURN, GK
[J]. JOURNAL OF PEDIATRICS, 1982, 100 (06) : 946 - 950
[8] MULTIPLE ACYL-COA DEHYDROGENASE-DEFICIENCY (GLUTARIC ACIDURIA TYPE-II) WITH TRANSIENT HYPERSARCOSINEMIA AND SARCOSINURIA - POSSIBLE INHERITED DEFICIENCY OF AN ELECTRON-TRANSFER FLAVOPROTEIN
GOODMAN, SI
MCCABE, ERB
FENNESSEY, PV
MACE, JW
[J]. PEDIATRIC RESEARCH, 1980, 14 (01) : 12 - 17
[9] THE OCCURRENCE OF C6-C10-DICARBOXYLIC ACIDS, ETHYLMALONIC ACID, 5-HYDROXYCAPROIC ACID, BUTYRYLGLYCINE, ISOVALERYLGLYCINE, ISOBUTYRYLGLYCINE, 2-METHYLBUTYRYLGLYCINE AND GLUTARIC ACID IN THE URINE OF RIBOFLAVIN DEFICIENT RATS
GREGERSEN, N
KOLVRAA, S
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1982, 5 : 17 - 18
[10] C-6-C-10-DICARBOXYLIC ACIDURIA - INVESTIGATIONS OF A PATIENT WITH RIBOFLAVIN RESPONSIVE MULTIPLE ACYL-COA DEHYDROGENATION DEFECTS
GREGERSEN, N
WINTZENSEN, H
KOLVRAA, S
CHRISTENSEN, E
CHRISTENSEN, MF
BRANDT, NJ
RASMUSSEN, K
[J]. PEDIATRIC RESEARCH, 1982, 16 (10) : 861 - 868

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