chondrodysplasia punctata/oxidase

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Very large peroxisomes in distinct peroxisomal disorders (rhizomelic chondrodysplasia punctata and acyl-CoA oxidase deficiency): novel data.

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Logáil Isteach / Cláraigh

We report very large hepatic peroxisomes (d-circle greater than 1 micron) in a patient with rhizomelic chondrodysplasia punctata and a patient with acyl-CoA oxidase deficiency. The effects of peroxisomal enlargement on the enzymatic activity are discussed. As increase in peroxisomal size is also

Peroxisomal straight-chain Acyl-CoA oxidase and D-bifunctional protein are essential for the retroconversion step in docosahexaenoic acid synthesis.

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Logáil Isteach / Cláraigh

Docosahexaenoic acid (DHA, C22:6n-3) is essential for normal brain and retinal development. The nature and subcellular location of the terminal steps in DHA biosynthesis have been controversial. Rather than direct Delta4-desaturation of C22:5n-3, it has been proposed that this intermediate is

Cytoplasmic catalase and ghostlike peroxisomes in the liver from a child with atypical chondrodysplasia punctata.

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Logáil Isteach / Cláraigh

In the liver biopsy from an 8.5-year-old girl with the biochemical characteristics of rhizomelic chondrodysplasia punctata (RCDP), but with normal limbs, normal catalase-containing peroxisomes were absent. Light microscopy after diaminobenzidine staining for catalase activity (the peroxisomal marker

Biochemical abnormalities in rhizomelic chondrodysplasia punctata.

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Logáil Isteach / Cláraigh

Biochemical studies with emphasis on peroxisomal functions were conducted in six patients with well-documented rhizomelic chondrodysplasia punctata (RCDP) and compared with findings in patients with Zellweger syndrome and neonatal adrenoleukodystrophy (ALD). Patients with RCDP had three

Ultrastructure and immunocytochemistry of hepatic peroxisomes in rhizomelic chondrodysplasia punctata.

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Logáil Isteach / Cláraigh

Peroxisomes were studied in the liver of two rhizomelic chondrodysplasia punctata patients using electron microscopy and catalase cytochemistry. Immunoelectron microscopy was carried out on the liver of one of these patients using antibodies to catalase, acyl-CoA oxidase, bifunctional protein,

[Chondrodysplasia punctata (the Conradi-Hünermann syndrome). A clinical case report and review of the literature].

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Logáil Isteach / Cláraigh

A case of chondrodysplasia punctata (CDP) a mild form of Conradi-Huenermann type in a male newborn is presented. CDP is a bone dysplasia with the hallmark of stippling of the epiphyses. Although stippling of the epiphyses can be seen in several disorders and syndromes such as Zellweger sy., trisomy

Adrenoleukodystrophy and other peroxisomal disorders that affect the nervous system, including new observations on L-pipecolic acid oxidase in primates.

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Logáil Isteach / Cláraigh

Impaired nervous system function in childhood is encountered in 10 separate disorders of the peroxisome. Peroxisomal disorders are subdivided into three major groups. In group 1 there is failure to form the organelle and impairment of multiple peroxisomal functions. In group 3 peroxisome structure

Peroxisomal disorders in neurology.

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Logáil Isteach / Cláraigh

Although peroxisomes were initially believed to play only a minor role in mammalian metabolism, it is now clear that they catalyse essential reactions in a number of different metabolic pathways and thus play an indispensable role in intermediary metabolism. The metabolic pathways in which

Epilepsy in peroxisomal diseases.

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Logáil Isteach / Cláraigh

OBJECTIVE To clarify the electroclinical manifestation of epileptic seizures and the evolution of epilepsy in patients with peroxisomal diseases. METHODS Retrospective review of the medical records and EEGs of 14 patients with peroxisomal diseases: seven with Zellweger syndrome (ZS), two with

Genetic diseases caused by peroxisomal dysfunction. New findings in clinical and biochemical studies.

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Logáil Isteach / Cláraigh

Peroxisomes play an essential role in human cellular metabolism. Peroxisomal disorders, a group of genetic diseases caused by peroxisomal dysfunction, can be classified in three groups namely a group of disorders with a general peroxisomal dysfunction (Zellweger syndrome; infantile type of Refsum's

Investigational methods for peroxisomal disorders.

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Logáil Isteach / Cláraigh

Peroxisomes play an important role in cellular metabolism. Defects in peroxisome assembly or of a single peroxisomal pathway are associated with a wide variety of inherited disorders, including X-linked adrenoleukodystrophy, Zellweger spectrum disorders, rhizomelic chondrodysplasia punctata, and

Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients.

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Logáil Isteach / Cláraigh

Identification of a patient as suffering from a peroxisomal disorder usually starts by the finding of elevated very long-chain fatty acids in plasma and/or serum. This is followed by more detailed studies in blood, fibroblasts and tissues, including immunoblot analysis. Indeed, immunoblot analysis

Hyperpipecolic acidaemia: a diagnostic tool for peroxisomal disorders.

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Logáil Isteach / Cláraigh

Peroxisomal disorders include a complex spectrum of diseases, characterized by a high heterogeneity from both the clinical and the biochemical points of view. Specific assays are required for the study of peroxisome metabolism. Among these, pipecolic acid evaluation is considered as a supplementary

Prenatal and perinatal diagnosis of peroxisomal disorders.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

Peroxisomes play an essential role in human cellular metabolism. Peroxisomal disorders, a group of genetic diseases caused by peroxisomal dysfunction, can be classified into three groups: (1) disorders of peroxisome biogenesis with a generalized loss of peroxisomal functions (Zellweger syndrome,

Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.

Ní féidir ach le húsáideoirí cláraithe ailt a aistriú

Logáil Isteach / Cláraigh

We have measured the production of 14CO2 from exogenous [1-14C] phytanic acid in fibroblast monolayers from patients with classical Refsum's disease and peroxisomal disorders. Activities in the different disorders were (percentage of control): classical Refsum's disease (5%), isolated peroxisomal

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