Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders (Q44963971)

7 December 2017

Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders (English)

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7 December 2017

Matthias R Baumgartner

2

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7 December 2017

Antonella Peduto

1

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7 December 2017

Nanda M Verhoeven

3

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7 December 2017

Daniel Rabier

4

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7 December 2017

Marco Spada

5

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7 December 2017

Marie-Cecile Nassogne

6

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7 December 2017

Bwee-Tien T Poll-The

7

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7 December 2017

Giovanni Bonetti

8

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7 December 2017

Cornelis Jakobs

9

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7 December 2017

Jean-Marie Saudubray

10

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7 December 2017

1 July 2004

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Molecular Genetics and Metabolism

7 December 2017

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7 December 2017

82

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7 December 2017

3

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7 December 2017

224-230

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Clinical approach to inherited peroxisomal disorders

7 December 2017

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Peroxisomal disorders: genotype, phenotype, major neuropathologic lesions, and pathogenesis.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Peroxisome biogenesis disorders: genetics and cell biology

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Lipid metabolism in peroxisomes: enzymology, functions and dysfunctions of the fatty acid alpha- and beta-oxidation systems in humans

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Stable isotope dilution analysis of very long chain fatty acids in plasma, urine and amniotic fluid by electron capture negative ion mass fragmentography

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: application for selective screening of peroxisomal disorders

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Biochemistry of peroxisomes in health and disease

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Influence of pipecolic acid on the release and uptake of [3H]GABA from brain slices of mouse cerebral cortex

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Clinical approach to inherited peroxisomal disorders: a series of 27 patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Pre- and postnatal diagnosis of peroxisomal disorders using stable-isotope dilution gas chromatography--mass spectrometry

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Blood polyunsaturated fatty acids in patients with peroxisomal disorders. A multicenter study

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Measurement of peroxisomal fatty acid beta-oxidation in cultured human skin fibroblasts

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Liver and chorion cytochemistry

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Immunocytochemical localization of peroxisomal proteins in human liver and kidney

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Practical guide for morphometry of human peroxisomes on electron micrographs

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Analysis of pipecolic acid in biological fluids using capillary gas chromatography with electron-capture detection and [2H11]pipecolic acid as internal standard

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Enantiomeric analysis of D- and L-pipecolic acid in plasma using a chiral capillary gas chromatography column and mass fragmentography

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Saccharopine, a product of lysine breakdown by mammalian liver

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Metabolism of lysine in rat liver

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

The conversion of L-lysine to saccharopine and alpha-aminoadipate in mouse

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Origin of D- and L-pipecolic acid in human physiological fluids: a study of the catabolic mechanism to pipecolic acid using the lysine loading test

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

D-amino acid levels in human physiological fluids

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

L-Pipecolic acid oxidase, a human enzyme essential for the degradation of L-pipecolic acid, is most similar to the monomeric sarcosine oxidases

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Molecular cloning and expression of human L-pipecolate oxidase

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Cloning and functional expression of a mammalian gene for a peroxisomal sarcosine oxidase

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Pipecolic acid receptors in rat cerebral cortex.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Plasma levels of pipecolic acid, both L- and D-enantiomers, in patients with chronic liver diseases, especially hepatic encephalopathy

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Pipecolic acid induces apoptosis in neuronal cells

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

An Unidentified Compound in the Serum of Children with Kwashiorkor (Protein–Calorie Malnutrition)

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Comparative study on the correlation of plasma gamma-aminobutyric acid and pipecolic acid with liver function in patients with liver cirrhosis

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Major hyperpipecolataemia in a normal adult

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Fetal cerebrohepatorenal (Zellweger) syndrome: dysmorphic, radiologic, biochemical, and pathologic findings in four affected fetuses.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

A new peroxisomal disease with impaired phytanic and pipecolic acid oxidation

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygosity mapping and carrier testing in a single nuclear family

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

Short Report: Plasma pipecolic acid is frequently elevated in non‐peroxisomal disease

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.04.010

10.1016/J.YMGME.2004.04.010

7 January 2021

Identifiers

DOI

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7 December 2017

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