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Article
Open AccessUnderstanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach
MPS IIIA is a rare, degenerative pediatric genetic disease characterized by symptoms impacting cognition, mobility and behavior; the mean age of death is around 15 years of age. Currently, there are no approve...
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Glycosaminoglycans and Oligosaccharides Disorders: Glycosaminoglycans Synthesis Defects, Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders
Glycosaminoglycans, (GAGs, mucopolysaccharides) are essential constituents of connective tissue, including cartilage and vessel walls. They are composed of long sugar chains, containing highly sulfated, altern...
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Article
Open AccessPreconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population
Preconception expanded carrier screening (ECS) enables prospective parents to assess their risk of having a child with an autosomal recessive disorder. Knowledge on motivations, feelings, and considerations pe...
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Article
Open AccessReducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization and reprocessing therapy: a case study
Parents of children with severe inborn errors of metabolism frequently face stressful events related to the disease of their child and are consequently at high risk for develo** parental posttraumatic stress...
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Article
Open AccessThe attenuated end of the phenotypic spectrum in MPS III: from late-onset stable cognitive impairment to a non-neuronopathic phenotype
The phenotypic spectrum of many rare disorders is much wider than previously considered. Mucopolysaccharidosis type III (Sanfilippo syndrome, MPS III), is a lysosomal storage disorder traditionally considered ...
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Article
Open AccessTreatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure
In all patients with mucopolysaccharidosis type I (MPS I), skeletal disease (dysostosis multiplex) is a prominent, debilitating, condition related complication that may impact strongly on activities of daily l...
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Psychosocial Functioning in Parents of MPS III Patients
Background: Mucopolysaccharidosis type III (MPS III or Sanfilippo syndrome) is a lysosomal storage disease resulting in progressive neurocognitive decline during childhood and early demise. Its diagnosis may hav...
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Article
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias
Due to an unfortunate error during the typesetting process, the collaborators were presented incorrectly.
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Article
Open AccessProposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency
Patients with very long chain acyl-CoA dehydrogenase deficiency (VLCADD), a long chain fatty acid oxidation disorder, are traditionally treated with a long chain triglyceride (LCT) restricted and medium chain ...
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Article
Open AccessDisorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle
Mitochondrial fatty acid oxidation is an essential pathway for energy production, especially during prolonged fasting and sub-maximal exercise. Long-chain fatty acids are the most abundant fatty acids in the h...
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Article
Open AccessFailure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications
Rare diseases are often un- or misdiagnosed for extended periods, resulting in a long diagnostic delay that may significantly add to the burden of the disease. An early diagnosis is particularly essential if a...
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Article
Open AccessOccurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients
Patients with glutaric aciduria type 1 (GA1), a rare inherited metabolic disorder, have an increased risk for subdural hematomas (SDHs). GA1 is therefore generally included in the differential diagnosis of chi...
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Article
Impact of age at onset and newborn screening on outcome in organic acidurias
To describe current diagnostic and therapeutic strategies in organic acidurias (OADs) and to evaluate their impact on the disease course allowing harmonisation.
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Chapter
Mucopolysaccharidoses, Oligosaccharidoses and Sialic Acid Disorders
Genetic defects in enzymes that are involved in the lysosomal degradation of the mucopolysaccharides (glycosaminoglycans, GAGs) and the oligosaccharide chains of glycoproteins lead to chronic and invariably pr...
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Article
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
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Article
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
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Article
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
The clinical presentation of patients with organic acidurias (OAD) and urea cycle disorders (UCD) is variable; symptoms are often non-specific.
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Article
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
The disease course and long-term outcome of patients with organic acidurias (OAD) and urea cycle disorders (UCD) are incompletely understood.
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Article
Open AccessSleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome
The lysosomal storage disorder, mucopolysaccharidosis I (MPS I), commonly manifests with upper airway obstruction and sleep disordered breathing (SDB). The success of current therapies, including haematopoieti...
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Article
Open AccessLong-Term Statin Treatment in Children with Familial Hypercholesterolemia: More Insight into Tolerability and Adherence
Statins are currently the preferred pharmacological therapy in individuals with familial hypercholesterolemia (FH) with the aim to prevent premature atherosclerosis. In adults, these agents have been proven to...
