Peroxisomal Disorders

Perinatal Neuropathology ◽

10.1017/9781316671863.061 ◽

2021 ◽

pp. 378-384

Author(s):

Mirna Lechpammer

Keyword(s):

Peroxisomal Disorders

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Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography.

The Journal of Lipid Research ◽

10.1016/s0022-2275(20)41881-4 ◽

1992 ◽

Vol 33 (1) ◽

pp. 41-47

Author(s):

HJ ten Brink ◽

F Stellaard ◽

CM van den Heuvel ◽

RM Kok ◽

DS Schor ◽

...

Keyword(s):

Stable Isotope ◽

Isotope Dilution ◽

Phytanic Acid ◽

Negative Ion ◽

Isotope Dilution Analysis ◽

Mass Fragmentography ◽

Pristanic Acid ◽

Peroxisomal Disorders ◽

Stable Isotope Dilution Analysis ◽

Stable Isotope Dilution

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Measurement of plasma pristanic, phytanic and very long chain fatty acids by liquid chromatography-electrospray tandem mass spectrometry for the diagnosis of peroxisomal disorders

Journal of Chromatography B ◽

10.1016/j.jchromb.2003.09.014 ◽

2003 ◽

Vol 798 (1) ◽

pp. 159-162 ◽

Author(s):

D JOHNSON ◽

M TRINH ◽

T OE

Keyword(s):

Mass Spectrometry ◽

Fatty Acids ◽

Liquid Chromatography ◽

Tandem Mass Spectrometry ◽

Tandem Mass ◽

Long Chain Fatty Acids ◽

Electrospray Tandem Mass Spectrometry ◽

Peroxisomal Disorders ◽

Chain Fatty Acids

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Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework

Molecular Genetics and Metabolism ◽

10.1016/s1096-7192(21)00448-0 ◽

2021 ◽

Vol 132 ◽

pp. S236

Author(s):

Shruthi Mohan ◽

Meredith Weaver ◽

Megan Mayers ◽

Heather Baudet ◽

Lora Bean ◽

...

Keyword(s):

Clinical Validity ◽

Peroxisomal Disorders ◽

Strength Of Evidence

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Studies on the degradation of [U-3H]-phytanic acid and [U-3H]-pristanic acid in cultured fibroblasts from children with peroxisomal disorders

Scandinavian Journal of Clinical and Laboratory Investigation ◽

10.3109/00365519609088610 ◽

1996 ◽

Vol 56 (3) ◽

pp. 211-217 ◽

Author(s):

B. F. Kase ◽

I. Björkhem

Keyword(s):

Phytanic Acid ◽

Pristanic Acid ◽

Peroxisomal Disorders ◽

Cultured Fibroblasts

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Analysis of pristanic acid β-oxidation intermediates in plasma from healthy controls and patients affected with peroxisomal disorders by stable isotope dilution gas chromatography mass spectrometry

The Journal of Lipid Research ◽

10.1016/s0022-2275(20)33365-4 ◽

1999 ◽

Vol 40 (2) ◽

pp. 260-266

Author(s):

N.M. Verhoeven ◽

D.S.M. Schor ◽

E.A. Struys ◽

E.E.W. Jansen ◽

H.J. ten Brink ◽

...

Keyword(s):

Mass Spectrometry ◽

Gas Chromatography ◽

Stable Isotope ◽

Isotope Dilution ◽

Gas Chromatography Mass Spectrometry ◽

Healthy Controls ◽

Pristanic Acid ◽

Peroxisomal Disorders ◽

Stable Isotope Dilution ◽

Chromatography Mass Spectrometry

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Peroxisome Biology: Experimental Models, Peroxisomal Disorders and Neurological Diseases

10.1007/978-3-030-60204-8 ◽

2020 ◽

Keyword(s):

Neurological Diseases ◽

Experimental Models ◽

Peroxisomal Disorders

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Peroxisomal Disorders

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ◽

10.1007/978-3-642-40337-8_24 ◽

2014 ◽

pp. 375-397 ◽

Author(s):

Bwee Tien Poll-The ◽

Ronald J. A. Wanders

Keyword(s):

Peroxisomal Disorders

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Laboratory Diagnosis of Peroxisomal Disorders in the -Omics Era and the Continued Importance of Biomarkers and Biochemical Studies

Journal of Inborn Errors of Metabolism and Screening ◽

10.1177/2326409818810285 ◽

2018 ◽

Vol 6 ◽

pp. 232640981881028

Author(s):

Ronald J. A. Wanders ◽

Frédéric M. Vaz ◽

Sacha Ferdinandusse ◽

Stephan Kemp ◽

Merel S. Ebberink ◽

...

Keyword(s):

Laboratory Diagnosis ◽

Peroxisomal Disorders ◽

Biochemical Studies

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The Peroxisomal Disorders

Hospital Practice ◽

10.1080/21548331.1985.11703129 ◽

1985 ◽

Vol 20 (9) ◽

pp. 61-70 ◽

Author(s):

Hugo W. Moser ◽

Sidney L. Goldfischer

Keyword(s):

Peroxisomal Disorders

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Peroxisomal fatty acid beta-oxidation in relation to the accumulation of very long chain fatty acids in cultured skin fibroblasts from patients with Zellweger syndrome and other peroxisomal disorders.

Journal of Clinical Investigation ◽

10.1172/jci113271 ◽

1987 ◽

Vol 80 (6) ◽

pp. 1778-1783 ◽

Author(s):

R J Wanders ◽

C W van Roermund ◽

M J van Wijland ◽

R B Schutgens ◽

J Heikoop ◽

...

Keyword(s):

Fatty Acids ◽

Zellweger Syndrome ◽

Long Chain Fatty Acids ◽

Beta Oxidation ◽

Peroxisomal Disorders ◽

Cultured Skin ◽

Fatty Acid Beta Oxidation ◽

Peroxisomal Fatty Acid

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