Fumarate hydratase deficiency

被引：9

作者：

Bonioli, E

Di Stefano, A

Peri, V

Caruso, U

Cerone, R

Lamantea, E

Taroni, F

Bellini, C

机构：

[1] Univ Genoa, Ist Clin Pediat, I-16147 Genova, Italy

[2] Univ Genoa, Ist Puericultura & Med Neonatale, I-16147 Genova, Italy

[3] Ist Neurol Besta, Dipartimento Biochim & Genet, Lab Patol Cellulare, Milan, Italy

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1998年 / 21卷 / 04期

关键词：

D O I：

10.1023/A:1005379330187

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：435 / 436

页数：2

共 3 条

[1] VARIABILITY OF CLINICAL PRESENTATION IN FUMARATE HYDRATASE DEFICIENCY [J].

ELPELEG, ON ;

AMIR, N ;

CHRISTENSEN, E .

JOURNAL OF PEDIATRICS, 1992, 121 (05) :752-754

[2] FUMARASE DEFICIENCY IS AN AUTOSOMAL RECESSIVE ENCEPHALOPATHY AFFECTING BOTH THE MITOCHONDRIAL AND THE CYTOSOLIC ENZYMES [J].

GELLERA, C ;

UZIEL, G ;

RIMOLDI, M ;

ZEVIANI, M ;

LAVERDA, A ;

CARRARA, F ;

DIDONATO, S .

NEUROLOGY, 1990, 40 (03) :495-499

[3] Congenital fumarase deficiency presenting with hypotonia and areflexia [J].

Narayanan, V ;

Diven, W ;

AhdabBarmada, M .

JOURNAL OF CHILD NEUROLOGY, 1996, 11 (03) :252-255

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