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eP419 - Newborn screening second tier molecular testing is critical for identifying true positives in lysosomal storage diseases and X-linked adrenoleukodystrophy
by
Wang, Yang
,
Liu, Ruby
,
Patik, Meredith
,
Sgroi, Bethany
,
Borandi, PJ
,
Hegde, Madhuri
Published in
Molecular genetics and metabolism
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Newborn screening second tier molecular testing is critical for identifying true positives in lysosomal storage diseases and X-linked adrenoleukodystrophy
by
Wang, Yang
,
Liu, Ruby
,
Patik, Meredith
,
Sgroi, Bethany
,
Borandi, PJ
,
Hegde, Madhuri
Published in
Molecular genetics and metabolism
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Electrospray Tandem Mass Spectrometry for Analysis of Acylcarnitines in Dried Postmortem Blood Specimens Collected at Autopsy from Infants with Unexplained Cause of Death
by
Chace, Donald H
,
DiPerna, James C
,
Mitchell, Brenda L
,
Sgroi, Bethany
,
Hofman, Lindsay F
,
Naylor, Edwin W
Published in
Clinical chemistry (Baltimore, Md.)
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Molecular Genetics And Metabolism
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Clinical Chemistry
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Autopsy
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Bile - Chemistry
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Biological And Medical Sciences
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Blood Specimen Collection
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Canada
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Carnitine - Analogs & Derivatives
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Carnitine - Analysis
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Carnitine - Blood
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Diseases Of Mother, Fetus And Pregnancy
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Fatty Acids - Metabolism
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Gynecology. Andrology. Obstetrics
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Humans
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Infant
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Infant, Newborn
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Investigative Techniques, Diagnostic Techniques
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Life Sciences & Biomedicine
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Medical Laboratory Technology
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Medical Sciences
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Metabolic Diseases
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Metabolism, Inborn Errors - Diagnosis
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