Expanded newborn screening by mass spectrometry: New tests, future perspectives

Mass Spectrometry Reviews

Volumn 35, Issue 1, 2016, Pages 71-84

  Ombrone, Daniela ^a,b   Giocaliere, Elisa ^a   Forni, Giulia ^a   Malvagia, Sabrina ^a   La Marca, Giancarlo ^a,b  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

Author keywords

aevere combined immunodeficiences; dried blood spot; lysosomal storage disorders; newborn screening; tandem mass spectrometry

Indexed keywords

APPLICATION PROGRAMS; BIOCHEMISTRY; MASS SPECTROMETRY;

AEVERE COMBINED IMMUNODEFICIENCES; DRIED BLOOD SPOTS; LYSOSOMAL STORAGE DISORDER; NEWBORN SCREENING; TANDEM MASS SPECTROMETRY;

DIAGNOSIS;

GUANIDINOACETATE METHYLTRANSFERASE;

ADRENOLEUKODYSTROPHY; ANEMIA, SICKLE CELL; DEFICIENCY; HEPATOLENTICULAR DEGENERATION; HUMAN; LANGUAGE DEVELOPMENT DISORDERS; LYSOSOMAL STORAGE DISEASES; MASS SPECTROMETRY; MOVEMENT DISORDERS; NEWBORN; NEWBORN SCREENING; PROCEDURES; SEVERE COMBINED IMMUNODEFICIENCY; TANDEM MASS SPECTROMETRY;

ADRENOLEUKODYSTROPHY; ANEMIA, SICKLE CELL; GUANIDINOACETATE N-METHYLTRANSFERASE; HEPATOLENTICULAR DEGENERATION; HUMANS; INFANT, NEWBORN; LANGUAGE DEVELOPMENT DISORDERS; LYSOSOMAL STORAGE DISEASES; MASS SPECTROMETRY; MOVEMENT DISORDERS; NEONATAL SCREENING; SEVERE COMBINED IMMUNODEFICIENCY; TANDEM MASS SPECTROMETRY;

EID: 84955179453     PISSN: 02777037     EISSN: 10982787     Source Type: Journal    
DOI: 10.1002/mas.21463     Document Type: Review

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