23 Result(s)
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Open AccessSpectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria
Pathogenic variants in MMAB cause cblB-type methylmalonic aciduria, an autosomal-recessive disorder of propionate metabolism. MMAB encodes ATP:cobalamin adenosyltransferase, using ATP and cob(I)alamin to create 5...
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Open AccessEpimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12
epi-cblC is a recently discovered inherited disorder of intracellular vitamin B12 metabolism associating hematological, neurological, and cardiometabolic outcomes. It is produced by an epimutation at the promoter...
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Open AccessKey patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus
Acute intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders and non-acute IT-IEM such as phenylketonuria (PKU) and their treatment have a major impact on the life of affected chil...
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Open AccessA systematic review of moral reasons on orphan drug reimbursement
The number of market approvals of orphan medicinal products (OMPs) has been increasing steadily in the last 3 decades. While OMPs can offer a unique chance for patients suffering from rare diseases, they are u...
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Open AccessReducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents
Inborn errors of metabolism (IEM) are a group of rare, heterogeneous and complex genetic conditions. Clinically, IEM often affect the central nervous system and other organs. Some carry the risk of progression...
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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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Open AccessGuidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions.
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Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest
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Open AccessPosition statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks
A call from the EU for the set-up of European Reference Networks (ERNs) is expected to be launched in the first quarter of 2016. ERNs are intended to improve the care for patients with low prevalent or rare di...
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Article
Peer review fraud—it’s not big and it’s not clever
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Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
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Quo vadis: the re-definition of “inborn metabolic diseases”
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Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
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Open AccessNewborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines
Newborn screening (NBS) is justified if early intervention is effective in a disorder generally not detected early in life on a clinical basis, and if sensitive and specific biochemical markers exist. Experien...
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Open AccessUrinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta
Osteogenesis imperfecta (OI) is a group of genetic heterogeneous connective tissue disorders characterized by increased bone fragility and susceptibility to fractures. Laboratory diagnosis relies on time-consu...
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Article
Complex lipids
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Open AccessThree new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy
The cblC defect is a rare inborn error of intracellular cobalamin metabolism. Biochemical hallmarks are elevated homocysteine and low methionine in plasma accompanied by methylmalonic aciduria. Due to the hete...
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Open AccessQuality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review
In recent decades, considerable progress in diagnosis and treatment of patients with intoxication-type inborn errors of metabolism (IT-IEM) such as urea cycle disorders (UCD), organic acidurias (OA), maple syr...
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Article
Open AccessProposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or pr...
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Article
Open AccessCross-sectional observational study of 208 patients with non-classical urea cycle disorders
Urea cycle disorders (UCDs) are inherited disorders of ammonia detoxification often regarded as mainly of relevance to pediatricians. Based on an increasing number of case studies it has become obvious that a ...
