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Rhabdomyolysis: Review of the literature
TLDR
A diagnostic algorithm for rhabdomyolysis is proposed, which is aimed at preserving renal function, resolving compartment syndrome, restoring metabolic derangements, and volume replacement in patients with acute renal failure. Expand
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome.
TLDR
The vast majority of SLS patients seem to be severely affected independent of their genotype, as might be predicted from the essential role of FALDH in leucotriene B(4) (LTB(4)) metabolism, elevated urinary concentrations of LTB( 4) and 20-OH-LTB (4) were found in all patients studied. Expand
Etiology of mental retardation in children referred to a tertiary care center: a prospective study.
TLDR
It is found that in a tertiary care center, a diagnosis can be established in 1 out of every 2 patients and clinical history and physical examination are the most important instruments to reach a diagnosis. Expand
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights
TLDR
12 previously undescribed patients and six novel pathogenic variants in PLPBP are presented and the first zebrafish model of PLPHP deficiency using CRISPR/Cas9 is developed, providing new insights into disease mechanisms and can serve as a platform for drug discovery. Expand
Adrenoleukodystrophy – neuroendocrine pathogenesis and redefinition of natural history
TLDR
Current knowledge on the clinical presentation, diagnosis and treatment of X-Linked adrenoleukodystrophy is described, and gaps in the knowledge of the natural history of the disease are highlighted owing to an absence of large-scale prospective cohort studies. Expand
Phospholipid abnormalities in children with Barth syndrome.
TLDR
Abnormal cardiolipin is a specific diagnostic marker of cardiomyopathies caused by TAZ mutations, supporting the idea that TAZ encodes a human acyltransferase. Expand
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata
TLDR
The severe phenotype of rhizomelic chondrodysplasia punctata (RCDP) is accompanied by a specific pattern of both developmental and regressive MRI abnormalities, and plasmalogen levels seem to play an important role in the pathophysiology of CNS abnormalities in RCDP. Expand
Defective metabolism of Leukotriene B4 in the Sjögren–Larsson Syndrome
TLDR
Findings provide unambiguous evidence for defective LTB4 degradation in SLS patients, and offer new and non-invasive diagnostic tools, which open new pathophysiological considerations, with the prospect of rational treatment strategies. Expand
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia
TLDR
Variants in PCYT2, which encodes a key gene in phospholipid biosynthesis, are identified in five individuals with a new complex hereditary spastic paraplegia, revealing potential treatment strategies and plasma biomarkers. Expand
Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival
TLDR
MR findings in ZeS patients surviving the first year differ from Zellweger syndrome in predominance of regressive over developmental changes. Expand
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