Dissecting the spectrum of fatty acid oxidation disorders

被引：7

作者：

Stanley, CA ^{[1
]}

机构：

[1] Childrens Hosp Philadelphia, Div Endocrine, Philadelphia, PA 19104 USA

来源：

JOURNAL OF PEDIATRICS | 1998年 / 132卷 / 03期

关键词：

D O I：

10.1016/S0022-3476(98)70005-8

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：384 / 386

页数：3

共 15 条

[1] Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene [J].

Andresen, BS ;

Bross, P ;

VianeySaban, C ;

Divry, P ;

Zabot, MT ;

Roe, CR ;

Nada, MA ;

Byskov, A ;

Kruse, TA ;

Neve, S ;

Kristiansen, K ;

Knudsen, I ;

Corydon, MJ ;

Gregersen, N .

HUMAN MOLECULAR GENETICS, 1996, 5 (04) :461-472

[2] Mitochondrial short-chain L-3-hydroxyacyl-coenzyme a dehydrogenase deficiency: A new defect of fatty acid oxidation [J].

Bennett, MJ ;

Weinberger, MJ ;

Kobori, JA ;

Rinaldo, P ;

Burlina, AB .

PEDIATRIC RESEARCH, 1996, 39 (01) :185-188

[3] RATE-DEPENDENT DISTAL RENAL TUBULAR-ACIDOSIS AND CARNITINE PALMITOYLTRANSFERASE-I DEFICIENCY [J].

BERGMAN, AJIW ;

DONCKERWOLCKE, RAMG ;

DURAN, M ;

SMEITINK, JAM ;

MOUSSON, B ;

VIANEYSABAN, C ;

POLLTHE, BT .

PEDIATRIC RESEARCH, 1994, 36 (05) :582-588

[4] GENETIC DEFICIENCY OF SHORT-CHAIN ACYL-COENZYME-A DEHYDROGENASE IN CULTURED FIBROBLASTS FROM A PATIENT WITH MUSCLE CARNITINE DEFICIENCY AND SEVERE SKELETAL-MUSCLE WEAKNESS [J].

COATES, PM ;

HALE, DE ;

FINOCCHIARO, G ;

TANAKA, K ;

WINTER, SC .

JOURNAL OF CLINICAL INVESTIGATION, 1988, 81 (01) :171-175

[5] MUSCLE CARNITINE PALMITYLTRANSFERASE DEFICIENCY AND MYOGLOBINURIA [J].

DIMAURO, S ;

DIMAURO, PMM .

SCIENCE, 1973, 182 (4115) :929-931

[6]

Frerman FE, 1995, METABOLIC MOL BASES, P1611

[7] MOLECULAR-BASIS OF LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY - IDENTIFICATION OF THE MAJOR DISEASE-CAUSING MUTATION IN THE ALPHA-SUBUNIT OF THE MITOCHONDRIAL TRIFUNCTIONAL PROTEIN [J].

IJLST, L ;

WANDERS, RJA ;

USHIKUBO, S ;

KAMIJO, T ;

HASHIMOTO, T .

BIOCHIMICA ET BIOPHYSICA ACTA-LIPIDS AND LIPID METABOLISM, 1994, 1215 (03) :347-350

[8] The mitochondrial carnitine carrier protein: cDNA cloning, primary structure and comparison with other mitochondrial transport proteins [J].

Indiveri, C ;

Iacobazzi, V ;

Giangregorio, N ;

Palmieri, F .

BIOCHEMICAL JOURNAL, 1997, 321 :713-719

[9] A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype [J].

Morris, AAM ;

Olpin, SE ;

Brivet, M ;

Turnbull, DM ;

Jones, RAK ;

Leonard, JV .

JOURNAL OF PEDIATRICS, 1998, 132 (03) :514-516

[10] Sudden neonatal death in carnitine transporter deficiency [J].

Rinaldo, P ;

Stanley, CA ;

Hsu, BYL ;

Sanchez, LA ;

Stern, HJ .

JOURNAL OF PEDIATRICS, 1997, 131 (02) :304-305

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