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Article
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism
Deficiencies of different proteins involved in copper metabolism have been reported to cause human diseases. Well-known syndromes, for example, are Menkes and Wilson diseases. Here we report a patient presenti...
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Article
Die urämische Enzephalopathie als Erstmanifestation eines akuten postrenalen Nierenversagens im Notarztdienst
Neurocognitive disorders are often the reason to call for an emergency physician. We report on a 71 year old male patient who showed a sudden sensorial clouding caused by an uremic encephalopathy. The patient...
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Article
Menkes disease: Underlying genetic defect and new diagnostic possibilities
Cloning of the gene defective in the X-linked neurodegenerative disorder Menkes disease led to a cascade of new findings. Besides giving a better understanding of the intracellular copper homeostasis, these fi...
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Article
Investigation of the copper binding sites in the Menkes disease protein, ATP7A
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Article
Detection of genetic defects in Menkes disease by direct mutation analysis and its implications in carrier diagnosis
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Article
Prenatal and postnatal diagnosis of menkes disease, an inherited disorder of copper metabolism
105 patients with Menkes disease have been diagnosed from64Cu-uptake studies in fibroblasts. These results are presented together with chase results following removal of64Cu from the medium for 16 Menkes patients...
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Article
Menkes' disease: Clinical, therapeutic and biochemical studies
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Article
Menkes' X-linked disease: Prenatal diagnosis and carrier detection
Increased64Cu uptake into cultured cells is a biochemical marker for mutant cells in Menkes' disease (McKusick 30940). Using this marker selective prenatal diagnosis has been carried out in more than 80 at-risk p...