A diagnostic strategy for mitochondrial disorders

被引：2

作者：

Galán-Ortega, A

Coll-Cantí, J

Padrós-Fluvià, A

Arambarri-Hervias, M

Pintos-Morell, G

机构：

[1] Hosp Badalona Germans Trias & Pujol, Serv Bioquim, E-08916 Barcelona, Spain

[2] Hosp Badalona Germans Trias & Pujol, Neurol Serv, E-08916 Barcelona, Spain

[3] Hosp Badalona Germans Trias & Pujol, Serv Pediat, E-08916 Barcelona, Spain

来源：

REVISTA DE NEUROLOGIA | 1999年 / 29卷 / 01期

关键词：

mitochondrial cytopathy; mitochondrial diagnosis; mitochondrial DNA; mitochondrial metabolism; respiratory chain;

D O I：

10.33588/rn.2901.99193

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：52 / 58

页数：7

共 44 条

[21]

MUNNICH A, 1991, PEDIATRIE, V46, P509

[22]

MUNNICH A, 1996, INBORN METABOLIC DIS, V9, P121

[23] THE CLINICAL-FEATURES OF MITOCHONDRIAL MYOPATHY [J].

PETTY, RKH ;

HARDING, AE ;

MORGANHUGHES, JA .

BRAIN, 1986, 109 :915-938

[24]

POULTON J, 1989, LANCET, V1, P236

[25]

RIBES A, 1995, CROMOSOMA GEN, P284

[26]

ROCHE TE, 1990, ALPHA KETO ACID DEHY

[27]

ROTIG A, 1989, LANCET, V1, P902

[28] Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism [J].

Ruitenbeek, W ;

Wendel, U ;

Hamel, BCJ ;

Trijbels, JMF .

JOURNAL OF INHERITED METABOLIC DISEASE, 1996, 19 (04) :581-587

[29] BIOCHEMICAL AND MOLECULAR INVESTIGATIONS IN RESPIRATORY-CHAIN DEFICIENCIES [J].

RUSTIN, P ;

CHRETIEN, D ;

BOURGERON, T ;

GERARD, B ;

ROTIG, A ;

SAUDUBRAY, JM ;

MUNNICH, A .

CLINICA CHIMICA ACTA, 1994, 228 (01) :35-51

[30] STRUCTURAL AND FUNCTIONAL MITOCHONDRIAL ABNORMALITIES ASSOCIATED WITH HIGH-LEVELS OF PARTIALLY DELETED MITOCHONDRIAL DNAS IN SOMATIC-CELL HYBRIDS [J].

SANCHO, S ;

MORAES, CT ;

TANJI, K ;

MIRANDA, AF .

SOMATIC CELL AND MOLECULAR GENETICS, 1992, 18 (05) :431-442

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