Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group

Journal of Inherited Metabolic Disease

Volumn 31, Issue 1, 2008, Pages 55-66

  Merinero, B ^a   Perez B ^a   Perez Cerda C ^a   Rincon A ^a   Desviat, L R ^a   Martinez M A ^a   Sala, Ruiz P ^a   Garcia M J ^a   Aldamiz Echevarria L ^b   Campos, J ^c   Cornejo, V ^d   del Toro, M ^e   Mahfoud, A ^f   Martinez Pardo M ^g   Parini, R ^h   Pedron C ⁱ   Pena Quintana L ^j   Perez M ^k   Pourfarzam, M ^l   Ugarte, M ^a  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b HOSPITAL DE CRUCES   (Spain)

^c HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^d UNIVERSITY OF CHILE   (Chile)

^e Hospital Val'Hebrón   (Spain)

^f Fundacion Instituto de Estudios Avanzados IDEA   (Venezuela)

^g HOSPITAL RAMÓN Y CAJAL   (Spain)

^h Clin Pediat Univ Milano Bicocca   (Italy)

ⁱ HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^j HOSPITAL UNIVERSITARIO MATERNO INFANTIL DE CANARIAS   (Spain)

^k HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^l NEWCASTLE UNIVERSITY   (United Kingdom)

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Author keywords

[No Author keywords available]

Indexed keywords

COBALAMIN; COBALAMIN A; COBALAMIN B; CYTOSINE; GUANINE; HYDROXOCOBALAMIN; LONG CHAIN FATTY ACID; MESSENGER RNA; METHYLMALONYL COENZYME A MUTASE; PROPIONIC ACID; PROTEIN MUT; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; BIOCHEMISTRY; CLINICAL ARTICLE; CODON; COHORT ANALYSIS; CONTROLLED STUDY; DIET THERAPY; DISEASE COURSE; DISEASE SEVERITY; FRAMESHIFT MUTATION; GENE EXPRESSION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; IN VITRO STUDY; METHYLMALONIC ACIDEMIA; MISSENSE MUTATION; NONSENSE MUTATION; REAL TIME POLYMERASE CHAIN REACTION;

ALKYL AND ARYL TRANSFERASES; AMINO ACID METABOLISM, INBORN ERRORS; BIOLOGICAL MARKERS; CELL LINE; COHORT STUDIES; GENETIC COMPLEMENTATION TEST; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MEMBRANE TRANSPORT PROTEINS; METHYLMALONIC ACID; METHYLMALONYL-COA MUTASE; MITOCHONDRIAL PROTEINS; MUTATION; VITAMIN B 12;

EID: 40749148973     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-007-0667-y     Document Type: Article

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