Lactic acidosis and mitochondrial dysfunction in two children with peroxisomal disorders (original) (raw)
Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls
Sakkubai Naidu
Annals of Neurology, 1999
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A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)
C. Roermund
American journal of human genetics, 1988
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Peroxisomal Fatty Acid β-Oxidation in Relation to Adrenoleukodystrophy
C. Roermund
Developmental Neuroscience, 1991
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Targeted Disruption of the Peroxisomal Fatty Acyl-CoA Oxidase Gene: Generation of a Mouse Model of Pseudoneonatal Adrenoleukodystrophy
nobuteru usuda
Annals of the New York Academy of Sciences, 1996
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Measurement of plasma very long-chain fatty acids as a preliminary screening procedure for the diagnosis of peroxisomal disorders
Neil Dalton
Journal of Inherited Metabolic Disease, 1994
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Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders
Ronald Wanders
Neuropediatrics, 2016
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Metabolism of saturated and polyunsaturated very-long-chain fatty acids in fibroblasts from patients with defects in peroxisomal β-oxidation
Jackie Street
Biochemical Journal, 1990
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Peroxisomal acyl‐CoA‐oxidase deficiency: Two new cases
Ronald Wanders, Federica Deodato, R. Carrozzo
American Journal of Medical Genetics Part A, 2008
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A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase
Carlo van Roermund
Biochimica et biophysica acta. Molecular basis of disease, 2018
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First prenatal diagnosis of acyl-CoA oxidase deficiency
F. Stellaard
Journal of Inherited Metabolic Disease, 1990
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Blood polyunsaturated fatty acids in patients with peroxisomal disorders. A multicenter study
Manuel Roig
Lipids, 1994
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Abnormal profiles of polyunsaturated fatty acids in the brain, liver, kidney and retina of patients with peroxisomal disorders
Manuel Martinez-Rivera
Brain Research, 1992
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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
Carlo van Roermund
Journal of Clinical Investigation, 1987
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The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders
Ronald Wanders
Journal of Inherited Metabolic Disease, 2016
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Serum very-long-chain fatty acids levels determined by gas chromatography in the diagnosis of peroxisomal disorders in Poland
Teresa Stradomska
Folia Neuropathologica, 2009
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Peroxisomal fatty acid α- and β-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases
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Biochemical Society Transactions, 2001
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Screening For Very Long Chain Fatty Acids in Egyptian Children with Inherited Peroxisomal Disorders
Sahar Hassanein
2015
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Metabolism of branched chain fatty acids in peroxisomal disorders
harinder singh
Journal of Inherited Metabolic Disease, 1990
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Direct demonstration that the deficient oxidation of very long chain fatty acids in X-linked adrenoleukodystrophy is due to an impaired ability of peroxisomes to activate very long chain fatty acids
C. Roermund
Biochemical and Biophysical Research Communications, 1988
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Biochemical Diagnosis of Peroxisomal Disorders by GC / MS : Egyptian Patients with X-linked Adrenoleukodystrophy
Mona Ibrahim
The Egyptian Journal of Hospital Medicine, 2013
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The presence of acyl-CoA hydrolase in rat brown-adipose-tissue peroxisomes
Rolf Berge
The Biochemical journal, 1989
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Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: Resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency
Jerzy Adamski
Proceedings of the National Academy of Sciences, 1998
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Peroxisomal acyl CoA oxidase deficiency
Yasuyuki Suzuki
The Journal of pediatrics, 2002
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Evidence of oxidative stress in peroxisomal disorders
Hala Bassyouni
Singapore medical journal, 2012
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Characteristic urine organic acid profile in peroxisomal biogenesis disorders
Stanley Korman
Journal of inherited metabolic disease, 2000
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Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?
Niels Gregersen
Pediatric Research, 2020
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