Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

Human Mutation

Volumn 30, Issue 11, 2009, Pages 1558-1566

  Richard, Eva ^a,b   Jorge Finnigan, Ana ^a,b   Garcia Villoria, Judit ^b,c   Merinero, Begoña ^a,b   Desviat, Lourdes R ^a,b   Gort, Laura ^b,c   Briones, Paz ^b,c   Leal, Fátima ^a,b   Pérez Cerdá, Celia ^a,b   Ribes, Antonia ^b,c   Ugarte, Magdalena ^a,b   Pérez, Belén ^a,b   Aguirre, A ^d   Andres M ^e   Badia J ^f   Baldellou, A ^g   Couce, M L ^h   Garcia Cazorla A ⁱ   Garcia Silva M T ^j   Lama, R ^k   Lopez Mendoza, S ^l   Martinez Pardo M ^m   Olivares, J L ⁿ   Parini, R ^o   Parraga, D ^p   Pedron C ^q   Pena L ^r   Pineda, M ⁱ   Pintos, G ^s   Porta, R ^t   Rosello P ^u   Ruiz, A ^v   Toro, M ^w   Urbon A ^x   Vernet, A ⁱ   Vilaseca, M A ⁱ   Yoldi, M E ^y   more..

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL CLÍNIC   (Spain)

^d HOSPITAL DE BASURTO   (Spain)

^e HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^f Department of Pediatrics   (Spain)

^g HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^h HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

ⁱ HOSPITAL SANT JOAN DE DÉU   (Spain)

^j HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^k HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^l HOSPITAL UNIVERSITARIO NUESTRA SEÑORA DE CANDELARIA   (Spain)

^m HOSPITAL RAMÓN Y CAJAL   (Spain)

ⁿ HOSPITAL CLÍNICO UNIVERSITARIO LOZANO BLESA   (Spain)

^o Clinica Pediatrica   (Italy)

^p Hospital Universitario Reina Sofia Cordoba   (Argentina)

^q HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^r HOSPITAL UNIVERSITARIO MATERNO INFANTIL DE CANARIAS   (Spain)

^s HOSPITAL UNIVERSITARI GERMANS TRIAS I PUJOL   (Spain)

^t INSTITUT UNIVERSITARI DEXEUS   (Spain)

^u Clinic de Valencia   (Spain)

^v HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^w HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^x Hospital Complejo Asistencial de Segovia   (Spain)

^y Universidad Pública de Navarra   (Spain)

more..

Author keywords

Homocystinuria; Methylmalonic aciduria; MMACHC; Oxidative stress

Indexed keywords

CYANOCOBALAMIN; REACTIVE OXYGEN METABOLITE; SCAVENGER;

APOPTOSIS; ARTICLE; BLOOD SAMPLING; CELL DAMAGE; CELL LINE; CELL STRESS; CLINICAL ARTICLE; COBALAMIN DEFICIENCY TYPE C; FIBROBLAST; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HOMOCYSTINURIA; HUMAN; METHYLMALONIC ACIDURIA; MOLECULAR BIOLOGY; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; OXIDATIVE STRESS; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SUPPLEMENTATION; VITAMIN DEFICIENCY; VITAMIN METABOLISM;

APOPTOSIS; CARRIER PROTEINS; GENETIC ASSOCIATION STUDIES; HOMOCYSTINURIA; HUMANS; MITOCHONDRIA; OXIDATIVE STRESS; REACTIVE OXYGEN SPECIES; SUPEROXIDE DISMUTASE; VITAMIN B 12; VITAMIN B 12 DEFICIENCY;

EID: 70350741367     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.21107     Document Type: Article

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