(Q46029289)

18 December 2017

title

Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients. (English)

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18 December 2017

4

Margaret M McGovern

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18 December 2017

author name string

Wei-Lien Chuang

1

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18 December 2017

Joshua Pacheco

2

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18 December 2017

Samantha Cooper

3

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18 December 2017

Gerald F Cox

5

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18 December 2017

Joan Keutzer

6

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18 December 2017

X Kate Zhang

7

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18 December 2017

publication date

7 December 2013

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18 December 2017

Molecular Genetics and Metabolism

published in

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18 December 2017

volume

111

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18 December 2017

issue

2

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18 December 2017

page(s)

209-211

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18 December 2017

Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen

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Sphingosylphosphorylcholine in Niemann-Pick disease brain: accumulation in type A but not in type B.

7 January 2021

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Lipid abnormalities in children with types A and B Niemann Pick disease

7 January 2021

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Combined hematopoietic and lentiviral gene-transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe disease

7 January 2021

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Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease.

7 January 2021

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Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

7 January 2021

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Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2013.11.012

Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry

7 January 2021

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An enzymatic assay for quantifying sphingomyelin in tissues and plasma from humans and mice with Niemann-Pick disease

7 January 2021

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A fluorescence-based, high-throughput sphingomyelin assay for the analysis of Niemann-Pick disease and other disorders of sphingomyelin metabolism

7 January 2021

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The multi-functional role of sphingosylphosphorylcholine.

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Abnormal expression of sphingomyelin acylase in atopic dermatitis: an etiologic factor for ceramide deficiency?

7 January 2021

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High-expression of sphingomyelin deacylase is an important determinant of ceramide deficiency leading to barrier disruption in atopic dermatitis

7 January 2021

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Enzymic synthesis of sphingosylphosphorylcholine

7 January 2021

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The isolation and characterization of sphingomyelinase from human placental tissue

7 January 2021

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Acid Sphingomyelinase of Human Brain: Purification to Homogeneity

7 January 2021

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Acid sphingomyelinase from human urine: purification and characterization.

7 January 2021

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Identification of human plasma lysophospholipase D, a lysophosphatidic acid-producing enzyme, as autotaxin, a multifunctional phosphodiesterase

7 January 2021

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Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype

7 January 2021

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Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease

7 January 2021

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Activation of phosphatidylinositol-specific phospholipase C by HDL-associated lysosphingolipid. Involvement in mitogenesis but not in cholesterol efflux

7 January 2021

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7 January 2021

Identifiers

DOI

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18 December 2017

PubMed ID

24418695

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18 December 2017