Hypermethioninaemia due to methionine adenosyltransferase I/III (MAT I/III) deficiency: Diagnosis in an expanded neonatal screening programme

Journal of Inherited Metabolic Disease

Volumn 31, Issue SUPPL. 2, 2008, Pages

  Couce, M L ^a   Boveda M D ^a   Castineiras D E ^a   Corrales, F J ^b   Mora, M I ^b   Fraga, J M ^a   Mudd, S H ^c  

^a University Hospital of Santiago de Compostela   (Spain)

^b UNIVERSITY OF NAVARRA   (Spain)

^c NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; HOMOCYSTEINE; MAT1A PROTEIN, HUMAN; METHIONINE; METHIONINE ADENOSYLTRANSFERASE;

ARTICLE; BLOOD; CHILD DEVELOPMENT; DIET THERAPY; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; EARLY DIAGNOSIS; ENZYMOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETICS; HUMAN; INFANT; MALE; METHODOLOGY; MUTATION; NEWBORN; NEWBORN SCREENING; PEDIGREE; PHENOTYPE; PREDICTIVE VALUE; PRESCHOOL CHILD; PROGNOSIS; SPAIN; TANDEM MASS SPECTROMETRY; UPREGULATION;

AMINO ACID METABOLISM, INBORN ERRORS; BIOLOGICAL MARKERS; CHILD DEVELOPMENT; CHILD, PRESCHOOL; EARLY DIAGNOSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HOMOCYSTEINE; HUMANS; INFANT; INFANT, NEWBORN; MALE; METHIONINE; METHIONINE ADENOSYLTRANSFERASE; MUTATION; NEONATAL SCREENING; PEDIGREE; PHENOTYPE; PREDICTIVE VALUE OF TESTS; PROGNOSIS; SPAIN; TANDEM MASS SPECTROMETRY; UP-REGULATION;

EID: 84855579234     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0811-3     Document Type: Article

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