6 Result(s)
within
E. J. Kamsteeg
English
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Article
Open AccessThe histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations
The histopathological features of malignant hyperthermia (MH) and non-anaesthetic (mostly exertional) rhabdomyolysis (RM) due to RYR1 mutations have only been reported in a few cases.
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Article
Open AccessUnderstanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases
The use of whole exome sequencing (WES) for diagnostics of children with rare genetic diseases raises questions about best practices in genetic counselling. While a lot of attention is now given to pre-test co...
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Article
“Human Stress Syndrome” and the Expanding Spectrum of RYR1-Related Myopathies
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Article
GLUT1 deficiency syndrome into adulthood: a follow-up study
GLUT1 deficiency syndrome (GLUT1DS) is a treatable neurometabolic disorder in which glucose transport into the brain is disturbed. Besides the classic phenotype of intellectual disability, epilepsy, and moveme...
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Article
ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes
SPAST mutations are the most common cause of autosomal dominant hereditary spastic paraplegias (AD-HSPs), but many spastic paraplegia patients are found to carry no mutations in this gene. In ord...
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Article
Functionality of aquaporin-2 missense mutants in recessive nephrogenic diabetes insipidus
Aquaporin-2 (AQP2) missense mutants in recessive nephrogenic diabetes insipidus (NDI) are all retained in the endoplasmic reticulum (ER), but some could function as water channels. No conclusions could be draw...
