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Article
Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease
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Article
The presence of anaemia negatively influences survival in patients with POLG disease
Mitochondria play an important role in iron metabolism and haematopoietic cell homeostasis. Recent studies in mice showed that a mutation in the catalytic subunit of polymerase gamma (POLG) was associated with ha...
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Article
Open AccessFriedreich ataxia in Norway – an epidemiological, molecular and clinical study
Friedreich ataxia is an autosomal recessive hereditary spinocerebellar disorder, characterized by progressive limb and gait ataxia due to proprioceptive loss, often complicated by cardiomyopathy, diabetes and ...
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Article
Open AccessSTUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
A subset of hereditary cerebellar ataxias is inherited as autosomal recessive traits (ARCAs). Classification of recessive ataxias due to phenotypic differences in the cerebellum and cerebellar structures is co...
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Article
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis
Stephen Robertson and colleagues report that germline mutations in WTX cause an X-linked sclerosing bone dysplasia marked by increased bone density and craniofacial malformations in females and lethality in males...
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Chapter
On the Formation and Fate of Total Plasma Homocysteine
The total concentration of homocysteine (tHcy)* in plasma is a useful marker of impaired function of cobalamin and folate. Moreover, it is an independent risk factor for atherosclerotic disease [1]. These find...
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Chapter
Homocysteine and Drug Therapy
Several agents other than vitamins involved in homocysteine (Hcy) metabolism affect plasma homocysteine (tHcy) total concentration. The mechanisms behind the hyperhomocysteinemia vary from altered homocysteine...
