38 Result(s)
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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
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
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
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
Complex lipids
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Chapter
Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium
Background: Patients with organic acidurias (OAD) and urea cycle disorders (UCD) are at increased risk of disability, impaired quality of life and reduced life expectancy. Clinical care in any one ...
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Article
Characterization of functional domains of the cblD (MMADHC) gene product
In humans vitamin B12 (cobalamin, Cbl) must be converted into two coenzyme forms, methylcobalamin (MeCbl) and adenosylcobalamin (AdoCbl), in order to maintain intracellular homeostasis of homocysteine and methylm...
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Vitamin B12 Disorders
Vitamin B12 (Cbl) is needed for just two metabolic reactions in man, the methylation of homocysteine to methionine (cofactor methyl-Cbl) and the conversion of methylmalonyl-CoA to succinyl-CoA (cofactor adenosyl-...
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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 ...
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Article
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine
Δ1-Pyrroline-5-carboxylate synthetase (P5CS) catalyzes the first two steps of ornithine/proline biosynthesis. P5CS deficiency has been reported in three families, with patients presenting with cutis/joint laxity....
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Chapter
Biotin-responsive Disorders
Two inherited defects affecting the coenzyme function of biotin are known: holocarboxylase synthetase (HCS) deficiency and biotinidase deficiency. Both lead to deficiency of all biotin-dependent carboxylases, i.e...
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Chapter
Disorders of Ornithine Metabolism
Hyperornithinaemia due to ornithine aminotransferase (OAT) deficiency results in gyrate atrophy of the choroid and retina (GA). Although the progression of the retinal degeneration is highly variab...
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Article
CRIM-negative infantile Pompe disease: 42-month treatment outcome
Pompe disease is a rare lysosomal glycogen storage disorder characterized by deficiency of acid α-glucosidase enzyme (GAA) and caused by mutations in the GAA gene. Infantile-type Pompe disease is a multiorgan dis...
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Article
Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples
Blood sampling for newborn screening cannot be standardized as for example blood collection in adults after an overnight fast. Therefore the influence of postprandial changes and individual variation is valuab...
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Chapter
Biotin-Responsive Disorders
Two inherited defects in biotin metabolism are known: holocarboxylase synthetase (HCS) deficiency and biotinidase deficiency. Both lead to deficiency of all biotindependent carboxylases, i.e. to multiple carboxyl...
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Chapter
Disorders of Ornithine Metabolism
Hyperornithinemia due to ornithine aminotransferase (OAT) deficiency is associated with gyrate atrophy of the choroid and retina. Patients usually become virtually blind by age 55. Treatment...
