(Q34488327)

2 August 2017

title

Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls (English)

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2 August 2017

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Moser AB

1

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2 August 2017

Kreiter N

2

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2 August 2017

Bezman L

3

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2 August 2017

Lu S

4

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2 August 2017

Raymond GV

5

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2 August 2017

Naidu S

6

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2 August 2017

Moser HW

7

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2 August 2017

publication date

1 January 1999

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2 August 2017

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2 August 2017

volume

45

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2 August 2017

issue

1

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2 August 2017

page(s)

100-110

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Adrenoleukodystrophy: increased plasma content of saturated very long chain fatty acids

2 August 2017

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Adrenoleukodystrophy: phenotype, genetics, pathogenesis and therapy

21 January 2018

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Serum very long chain fatty acid pattern in Zellweger syndrome

21 January 2018

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The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis

21 January 2018

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Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies

21 January 2018

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Pseudo-Zellweger syndrome: deficiencies in several peroxisomal oxidative activities

21 January 2018

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Lignoceric acid is oxidized in the peroxisome: implications for the Zellweger cerebro-hepato-renal syndrome and adrenoleukodystrophy

21 January 2018

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Oronasopharyngeal teratomas

21 January 2018

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X-linked adrenoleukodystrophy with non-diagnostic plasma very long chain fatty acids

21 January 2018

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X-linked adrenoleukodystrophy: biochemical diagnosis and enzyme defect

21 January 2018

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Molecular defects in genetic diseases of peroxisomes

21 January 2018

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Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders

21 January 2018

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Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

21 January 2018

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Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency

21 January 2018

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Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children

21 January 2018

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Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis

21 January 2018

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Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production

21 January 2018

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Clinical variation in X-linked adrenoleukodystrophy: fatty acid and lipid metabolism in cultured fibroblasts

21 January 2018

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Very long-chain fatty acid pattern in crush syndrome patients in the Kobe earthquake

21 January 2018

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Increased very long-chain fatty acids in erythrocyte membranes of patients with aceruloplasminemia

21 January 2018

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Measurement of very long-chain fatty acids, phytanic and pristanic acid in plasma and cultured fibroblasts by gas chromatography.

21 January 2018

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

21 January 2018

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Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

21 January 2018

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Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transporters

21 January 2018

1 reference

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Mutational analysis of patients with X-linked adrenoleukodystrophy

21 January 2018

1 reference

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X-linked adrenoleukodystrophy (ALD): a novel mutation of the ALD gene in 6 members of a family presenting with 5 different phenotypes

21 January 2018

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Adrenoleukodystrophy: phenotypic variability and implications for therapy

21 January 2018

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Cerebral adrenoleukodystrophy (ALD) in only one of monozygotic twins with an identical ALD genotype.

21 January 2018

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Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F1531-8249%28199901%2945%3A1%3C100%3A%3AAID-ART16%3E3.0.CO%3B2-U

10.1002/1531-8249(199901)45:1<100::AID-ART16>3.0.CO;2-U

21 January 2018

Identifiers

DOI

1 reference

2 August 2017

1 reference