Newborn Screening for X-Linked Adrenoleukodystrophy.

Moser, Ann B; Jones, Richard O; Hubbard, Walter C; Tortorelli, Silvia; Orsini, Joseph J; Caggana, Michele; Vogel, Beth H; Raymond, Gerald V.

Afiliação

Moser AB; Kennedy Krieger Institute, Baltimore, MD 21205, USA.
Jones RO; Kennedy Krieger Institute, Baltimore, MD 21205, USA.
Hubbard WC; Division of Clinical Pharmacology, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA (retired).
Tortorelli S; Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
Orsini JJ; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY 12201, USA.
Caggana M; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY 12201, USA.
Vogel BH; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY 12201, USA.
Raymond GV; Department of Neurology, University of Minnesota Medical Center, Minneapolis, MN 55455, USA.

Int J Neonatal Screen ; 2(4)2016 Dec.

Article em En | MEDLINE | ID: mdl-31467997

Palavras-chave

C26:0 lysophosphatidyl choline; X-linked adrenoleukodystrophy; adrenal insufficiency; dried blood spot; hematopoietic cell transplantation; newborn screening; peroxisomal disorders; tandem mass spectrometry (LC-MS/MS)

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2016 Tipo de documento: Article