Hyperhomocysteinemia: Related genetic diseases and congenital defects, abnormal DNA methylation and newborn screening issues

Molecular Genetics and Metabolism

Volumn 113, Issue 1, 2014, Pages 27-33

  Iacobazzi, Vito ^a,b   Infantino, Vittoria ^c   Castegna, Alessandra ^a   Andria, Generoso ^d  

^a UNIVERSITY OF BARI   (Italy)

^b CNR   (Italy)

^c UNIVERSITY OF BASILICATA   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Cobalamin; Folate cycle; Homocysteine; Hyperhomocysteine; Methionine cycle; Newborn screening

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); COBALAMIN; CYSTATHIONINE BETA SYNTHASE;

CLEFT LIP; CLEFT PALATE; CONGENITAL DISORDER; CONGENITAL HEART MALFORMATION; DNA METHYLATION; DNA SEQUENCE; DOWN SYNDROME; GENETIC DISORDER; HOMOCYSTINURIA; HUMAN; HYPERHOMOCYSTEINEMIA; NEURAL TUBE DEFECT; NEWBORN SCREENING; NEXT GENERATION SEQUENCING; NONHUMAN; REVIEW; RISK FACTOR; TANDEM MASS SPECTROMETRY; GENETICS; MASS SCREENING; METABOLISM; NEWBORN; PROCEDURES;

DNA METHYLATION; HUMANS; HYPERHOMOCYSTEINEMIA; INFANT, NEWBORN; MASS SCREENING; NEONATAL SCREENING; RISK FACTORS;

EID: 84908505159     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2014.07.016     Document Type: Review

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