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Article
Open AccessClinical Symptoms, Laboratory Parameters and Long-Term Follow-up in a National DADA2 Cohort
Deficiency of adenosine deaminase-2 (DADA2) is an autosomal recessive autoinflammatory disease with an extremely variable disease presentation. This paper provides a comprehensive overview of the Dutch DADA2 c...
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Chapter
Peroxisomal Disorders
The peroxisomal disorders comprise a heterogeneous group of genetic diseases either caused by a defect in peroxisome biogenesis or in one of the metabolic functions of peroxisomes. Diagnosis of patients affect...
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Article
Open AccessThe cholic acid extension study in Zellweger spectrum disorders: results and implications for therapy
Currently, no therapies are available for Zellweger spectrum disorders (ZSDs), a group of genetic metabolic disorders characterised by a deficiency of functional peroxisomes. In a previous study, we showed tha...
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Article
Open AccessCoagulopathy in Zellweger spectrum disorders: a role for vitamin K
Zellweger spectrum disorders (ZSDs) are caused by an impairment of peroxisome biogenesis, resulting in multiple metabolic abnormalities. This leads to a range of symptoms, including hepatic dysfunction and coa...
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Article
Open AccessEvaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders
Zellweger spectrum disorders (ZSD) are a group of genetic metabolic disorders caused by a defect in peroxisome biogenesis. This results in multiple metabolic abnormalities, including elevated very long-chain f...
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Article
Open AccessPeroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line
The immortalized human hepatocyte (IHH) cell line is increasingly used for studies related to liver metabolism, including hepatic glucose, lipid, lipoprotein and triglyceride metabolism, and the effect of ther...
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Protocol
Clinical and Laboratory Diagnosis of Peroxisomal Disorders
The peroxisomal disorders (PDs) are a heterogeneous group of genetic diseases in man caused by an impairment in peroxisome biogenesis or one of the metabolic functions of peroxisomes. Thanks to the revolutiona...
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Article
Open AccessCholic acid therapy in Zellweger spectrum disorders
Zellweger spectrum disorders (ZSDs) are characterized by a failure in peroxisome formation, caused by autosomal recessive mutations in different PEX genes. At least some of the progressive and irreversible clinic...
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Article
Open AccessZellweger spectrum disorders: clinical overview and management approach
Zellweger spectrum disorders (ZSDs) represent the major subgroup within the peroxisomal biogenesis disorders caused by defects in PEX genes. The Zellweger spectrum is a clinical and biochemical continuum which ca...
