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Refsum Disease (Heredopathia Atactica Polyneuritiformis)

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Refsum Disease (Heredopathia Atactica Polyneuritiformis). / Panteliadis, CP; Hagel, Christian.

Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach. Hrsg. / Christos Panteliadis; Ramsis Benjamin; Christian Hagel. 3. Aufl. Zürich : Springer International Publishing, 2022. S. 445-450.

Publikationen: SCORING: Beitrag in Buch/Sammelwerk › Kapitel › Forschung

Harvard

Panteliadis, CP & Hagel, C 2022, Refsum Disease (Heredopathia Atactica Polyneuritiformis). in C Panteliadis, R Benjamin & C Hagel (Hrsg.), Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach. 3 Aufl., Springer International Publishing, Zürich, S. 445-450.

APA

Panteliadis, CP., & Hagel, C. (2022). Refsum Disease (Heredopathia Atactica Polyneuritiformis). in C. Panteliadis, R. Benjamin, & C. Hagel (Hrsg.), Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach (3 Aufl., S. 445-450). Springer International Publishing.

Vancouver

Panteliadis CP, Hagel C. Refsum Disease (Heredopathia Atactica Polyneuritiformis). in Panteliadis C, Benjamin R, Hagel C, Hrsg., Neurocutaneous Disorders: A Clinical, Diagnostic and Therapeutic Approach. 3 Aufl. Zürich: Springer International Publishing. 2022. S. 445-450

Bibtex

@inbook{b6101d9e8d064950adabbe7a7fb7f47c,
title = "Refsum Disease (Heredopathia Atactica Polyneuritiformis)",
abstract = "Heredopathia atactica polyneuritiformis, or simply Refsum disease, is an extremely rare autosomal recessive disorder of phytanic acid accumulation in plasma and various tissues. It typically occurs in the Scandinavian and Northern European countries. Patients with Refsum disease suffer from deficient activity in phytanoyl-CoA hydroxylase, a peroxisomal enzyme that phytanic acid, reaches cytotoxic levels. The disease is characterized by the tetrad of retinitis pigmentosa, polyneuropathy, cerebellar ataxia and elevated CSF protein. Variability in the clinical features includes ichthyosis, anosmia, cardiac arrhythmia, hearing loss and epiphyseal dysplasia.",
author = "CP Panteliadis and Christian Hagel",
year = "2022",
month = feb,
day = "4",
language = "English",
isbn = "978-3-030-87892-4",
pages = "445--450",
editor = "Christos Panteliadis and Ramsis Benjamin and Christian Hagel",
booktitle = "Neurocutaneous Disorders",
publisher = "Springer International Publishing",
address = "Switzerland",
edition = "3",

}

RIS

TY - CHAP

T1 - Refsum Disease (Heredopathia Atactica Polyneuritiformis)

AU - Panteliadis, CP

AU - Hagel, Christian

PY - 2022/2/4

Y1 - 2022/2/4

N2 - Heredopathia atactica polyneuritiformis, or simply Refsum disease, is an extremely rare autosomal recessive disorder of phytanic acid accumulation in plasma and various tissues. It typically occurs in the Scandinavian and Northern European countries. Patients with Refsum disease suffer from deficient activity in phytanoyl-CoA hydroxylase, a peroxisomal enzyme that phytanic acid, reaches cytotoxic levels. The disease is characterized by the tetrad of retinitis pigmentosa, polyneuropathy, cerebellar ataxia and elevated CSF protein. Variability in the clinical features includes ichthyosis, anosmia, cardiac arrhythmia, hearing loss and epiphyseal dysplasia.

AB - Heredopathia atactica polyneuritiformis, or simply Refsum disease, is an extremely rare autosomal recessive disorder of phytanic acid accumulation in plasma and various tissues. It typically occurs in the Scandinavian and Northern European countries. Patients with Refsum disease suffer from deficient activity in phytanoyl-CoA hydroxylase, a peroxisomal enzyme that phytanic acid, reaches cytotoxic levels. The disease is characterized by the tetrad of retinitis pigmentosa, polyneuropathy, cerebellar ataxia and elevated CSF protein. Variability in the clinical features includes ichthyosis, anosmia, cardiac arrhythmia, hearing loss and epiphyseal dysplasia.

M3 - Chapter

SN - 978-3-030-87892-4

SP - 445

EP - 450

BT - Neurocutaneous Disorders

A2 - Panteliadis, Christos

A2 - Benjamin, Ramsis

A2 - Hagel, Christian

PB - Springer International Publishing

CY - Zürich

ER -