Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening

Molecular Genetics and Metabolism

Volumn 110, Issue 3, 2013, Pages 218-221

  Couce, María L ^a   Bóveda, M Dolores ^a   García Jimémez, Concepción ^b   Balmaseda, Elena ^c   Vives, Inmaculada ^d   Castiñeiras, Daisy E ^a   Fernández Marmiesse, Ana ^a   Fraga, José M ^a   Mudd, S Harvey ^e   Corrales, Fernando J ^f  

^a University Hospital of Santiago de Compostela   (Spain)

^b HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^c HOSPITAL GENERAL UNIVERSITARIO DE ALBACETE   (Spain)

^d HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^e NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^f UNIVERSITY OF NAVARRA   (Spain)

Author keywords

Homocysteine; Newborn screening; Persistent hypermethioninemia; S adenosylmethionine

Indexed keywords

HOMOCYSTEINE; METHIONINE; METHIONINE ADENOSYLTRANSFERASE;

AMINO ACID BLOOD LEVEL; ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; HUMAN; INBORN ERROR OF METABOLISM; INNER EAR HEARING LOSS; MALE; METHIONINE ADENOSYLTRANSFERASE I DEFICIENCY; METHIONINE ADENOSYLTRANSFERASE III DEFICIENCY; MULTICENTER STUDY; MUTATION; NEWBORN; NEWBORN DISEASE; NEWBORN SCREENING; PRIORITY JOURNAL;

ADOMET/SAM; DEVELOPMENTAL QUOTIENTS; DQS; HOMOCYSTEINE; MAT; MCCARTHY SCALES OF CHILDREN'S ABILITIES; METHIONINE ADENOSYLTRANSFERASE; MSCA; NBS; NEWBORN SCREENING; PERSISTENT HYPERMETHIONINEMIA; S-ADENOSYLMETHIONINE; THCY; TOTAL HOMOCYSTEINE; WECHSLER INTELLIGENCE SCALE FOR CHILDREN; WISC;

AMINO ACID METABOLISM, INBORN ERRORS; FEMALE; FOLLOW-UP STUDIES; HUMANS; INFANT, NEWBORN; MALE; METHIONINE; METHIONINE ADENOSYLTRANSFERASE; MUTATION; NEONATAL SCREENING;

EID: 84885435540     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.08.003     Document Type: Article

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