Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy

Journal of Inherited Metabolic Disease

Volumn 35, Issue 3, 2012, Pages 451-458

  Giordano, Carla ^a   Viscomi, Carlo ^b   Orlandi, Maurizia ^a   Papoff, Paola ^a   Spalice, Alberto ^a   Burlina, Alberto ^c   Di Meo, Ivano ^b   Tiranti, Valeria ^b   Leuzzi, Vincenzo ^a   D'Amati, Giulia ^a   Zeviani, Massimo ^b  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b DEPARTMENT OF NEUROSURGERY   (Italy)

^c UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADIPIC ACID; BUTYRYLCARNITINE; CARNITINE DERIVATIVE; CYTOCHROME C OXIDASE; HEXANOYLCARNITINE; LACTIC ACID; PYRUVIC ACID; UNCLASSIFIED DRUG; VALERYLCARNITINE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTERIOLE; ARTICLE; AUTOPSY; AUTOSOMAL RECESSIVE DISORDER; BLOOD VESSEL INJURY; BRAIN CAPILLARY; BRAIN DISEASE; CASE REPORT; COMA; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; ELECTROENCEPHALOGRAM; ENDOTHELIUM LESION; ETHE1 GENE; ETHYLMALONIC ENCEPHALOPATHY; FEMALE; GENE; HISTOCHEMISTRY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; METABOLIC ACIDOSIS; MOUSE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; PROTON NUCLEAR MAGNETIC RESONANCE; RHABDOMYOLYSIS; WEAKNESS; WEST SYNDROME;

ANIMALS; AUTOPSY; BODY FLUIDS; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; DISEASE MODELS, ANIMAL; ELECTRON TRANSPORT COMPLEX IV; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; MICE; MICE, TRANSGENIC; MUSCLES; PURPURA; VASCULAR DISEASES;

EID: 84863318000     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9408-3     Document Type: Article

References (17)

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