The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders (original) (raw)

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders

Ronald Wanders

Neuropediatrics, 2016

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Ultrastructural and cytochemical demonstration of peroxisomes in cultured fibroblasts from patients with peroxisomal deficiency disorders

Jonathan Arias S

The Journal of Cell Biology, 1985

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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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Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics

Martin Vervaart

Journal of Inherited Metabolic Disease, 2017

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

C. Roermund

Journal of Inherited Metabolic Disease, 1995

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

Ronald Wanders

Journal of Inborn Errors of Metabolism and Screening

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Metabolic Aspects of Peroxisomal Disorders

C. Roermund

Annals of the New York Academy of Sciences, 1996

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A new type of peroxisomal disorder with variable expression in liver and fibroblasts

Moshe Berant, Theodore Iancu, Frank Roels

The Journal of Pediatrics, 1994

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Metabolic and molecular basis of peroxisomal disorders: A review

Ronald Wanders

American Journal of Medical Genetics, 2004

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Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients

rob ofman

Journal of Inherited Metabolic Disease, 1995

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Peroxisomes, lipid metabolism, and peroxisomal disorders

Ronald Wanders

Molecular Genetics and Metabolism, 2004

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Peroxisomal disorders: The single peroxisomal enzyme deficiencies

Ronald Wanders

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2006

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Peroxisomal biogenesis disorder biomarkers

Hala Bassyouni

Clinical laboratory

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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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Plasma lipidomics as a diagnostic tool for peroxisomal disorders

Martin Vervaart

Journal of Inherited Metabolic Disease, 2017

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Cyclooxygenase pathway in dermal fibroblasts from patients with metabolic disorders of peroxisomal origin

Ernst Malle

Clinica Chimica Acta, 1993

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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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Cholesterol biosynthesis in dermal fibroblasts from patients with metabolic disorders of peroxisomal origin

Karl Oettl

European Journal of Clinical Investigation, 1995

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The many faces of peroxisomal disorders: Lessons from a large Arab cohort

Amal y. Kentab

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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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Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism

P Van Veldhoven

The Journal of Lipid Research, 2010

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Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders

Ronald Wanders

Clinical Genetics, 2004

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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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Peroxisome mosaicism in the livers of peroxisomal deficiency patients*1

Marc Espeel, ingrid kerckaert

Hepatology, 1995

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Phenotypic heterogeneity in cultured skin fibroblasts from patients with disorders of peroxisome biogenesis belonging to the same complementation group

Erik Wiemer

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1991

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Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs

Mohamd Hashem

2011

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