33 Result(s)
within
Matthias R Baumgartner
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Article
Long-Term Outcome in Methylmalonic Acidurias Is Influenced by the Underlying Defect (mut0, mut−, cblA, cblB)
Isolated methylmalonic acidurias comprise a heterogeneous group of inborn errors of metabolism caused by defects of methylmalonyl-CoA mutase (MCM) (mut0, mut–) or deficient synthesis of its cofactor 5′-deoxyadeno...
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Article
Open Access3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals
Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency is an autosomal recessive disorder of leucine metabolism caused by mutations in MCCC1 or MCCC2 encoding the α and β subunit of MCC, respectively. The phe...
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Article
Open AccessPropionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
Propionic acidemia is an inherited disorder caused by deficiency of propionyl-CoA carboxylase. Although it is one of the most frequent organic acidurias, information on the outcome of affected individuals is s...
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Article
Open AccessGenetic basis of hyperlysinemia
Hyperlysinemia is an autosomal recessive inborn error of L-lysine degradation. To date only one causal mutation in the AASS gene encoding α-aminoadipic semialdehyde synthase has been reported. We aimed to better ...
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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 ...
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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 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 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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Article
Complex lipids
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Article
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
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
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Article
Quo vadis: the re-definition of “inborn metabolic diseases”
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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
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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Article
Peer review fraud—it’s not big and it’s not clever
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Article
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
Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest
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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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Article
Open AccessA PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
To date, epimutations reported in man have been somatic and erased in germlines. Here, we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B12 metabolism that we name “epi-cblC”....
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Article
Open AccessPublisher Correction: A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients
The original version of this Article contained an error in the title, which was incorrectly given as 'APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients'. This has now been corrected in b...
