Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type

Molecular Genetics and Metabolism

Volumn 93, Issue 4, 2008, Pages 475-480

  Nogueira, Célia ^a   Aiello, Chiara ^b   Cerone, Roberto ^c   Martins, Esmeralda ^d   Caruso, Ubaldo ^c   Moroni, Isabella ^e   Rizzo, Cristiano ^b   Diogo, Luísa ^f   Leão, Elisa ^g   Kok, Fernando ^h   Deodato, Federica ^b   Schiaffino, Maria Cristina ^c   Boenzi, Sara ^b   Danhaive, Olivier ^b   Barbot, Clara ^d   Sequeira, Sílvia ⁱ   Locatelli, Mattia ^b   Santorelli, Filippo M ^b   Uziel, Graziella ^e   Vilarinho, Laura ^a   Dionisi Vici, Carlo ^b   more..

^a NATIONAL INSTITUTE OF HEALTH   (Portugal)

^b Neonatal Intensive Care Unit   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

^d Department of Metabolic Diseases   (Portugal)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

^f HPC   (Portugal)

^g HSJ   (Portugal)

^h UNIVERSITY OF SÃO PAULO   (Brazil)

ⁱ HDE   (Portugal)

Author keywords

cblC; Methylmalonic aciduria and homocystinuria; MMACHC; MTHFR; Vitamin B12

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DIAGNOSTIC PROCEDURE; DISEASE SEVERITY; DNA MODIFICATION; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE; HOMOCYSTINURIA; HUMAN; INFANT; MALE; METHYLATION; METHYLMALONIC ACIDURIA; MMACHC GENE; MUTATIONAL ANALYSIS; OUTCOME ASSESSMENT; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGE OF ONSET; AMINO ACID METABOLISM, INBORN ERRORS; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; FEMALE; GENOTYPE; HOMOCYSTINURIA; HUMANS; INFANT; INFANT, NEWBORN; ITALY; MALE; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); METHYLMALONIC ACID; PHENOTYPE; PORTUGAL;

EID: 40849138093     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2007.11.005     Document Type: Article

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