Glutaryl-CoA dehydrogenase deficiency in Spain: Evidence of two groups of patients, genetically, and biochemically distinct

Pediatric Research

Volumn 48, Issue 3, 2000, Pages 315-322

  Busquets, Christiane ^a   Merinero, BegoñA ^b   Christensen, Ernst ^c   Gelpí, Josep Lluís ^d   Campistol, Jaume ⁱ   Pineda, Mercè ^e   Fernández Alvarez, Emilio ^e   Prats, José M ^f   Sans, Ana ^e   Arteaga, Rosa ^g   Martí, Milagros ^h   Campos, Jaime ⁱ   Martínez Pardo, Mercedes ^j   Martínez Bermejo, Antonio ^k   Vaquerizo, Julián ^l   Orozco, Modesto ^d   Ugarte, Magdalena ^b   Coll, M Josep ^a   Ribes, Antonia ^a  

^a Institut de Bioquimica Clinica Barcelona   (Spain)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^c Rigshospitalet   (Denmark)

^d UNIVERSITY OF BARCELONA   (Spain)

^e HOSPITAL SANT JOAN DE DÉU   (Spain)

^f HOSPITAL DE CRUCES   (Spain)

^g HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^h HOSPITAL UNIVERSITARIO MATERNO INFANTIL DE CANARIAS   (Spain)

ⁱ HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^j HOSPITAL RAMÓN Y CAJAL   (Spain)

^k HOSPITAL INFANTIL LA PAZ   (Spain)

^l HOSPITAL INFANTA CRISTINA   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLUTARIC ACID; GLUTARIC ACID DERIVATIVE; GLUTARYL COENZYME A DEHYDROGENASE;

ARTICLE; BRAIN DISEASE; CLINICAL ARTICLE; DISEASE ASSOCIATION; DISEASE SEVERITY; ENZYME DEFICIENCY; GENE MUTATION; GENE SEQUENCE; GLUTARIC ACIDURIA TYPE I; HUMAN; METABOLIC DISORDER; PRIORITY JOURNAL; PROTEIN FOLDING; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM; SPAIN;

EID: 0033875134     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/00006450-200009000-00009     Document Type: Article

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