24 Result(s)
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Living Reference Work Entry In depth
Renal Manifestations of Metabolic Disorders in Children
While the majority of children with renal dysfunction have structural, immunological, or infectious disorders, some have metabolic defects arising from abnormalities in biochemical pathways of cell metabolism....
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Article
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects...
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Article
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases
To improve our understanding of urea cycle disorders (UCDs) prospectively followed by two North American (NA) and European (EU) patient cohorts.
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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
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system
5,10-Methylenetetrahydrofolate reductase (MTHFR) catalyzes the NADPH-dependent reduction of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate using FAD as the cofactor. Severe MTHFR deficiency is the ...
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Article
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
Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest
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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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Article
Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
Organic acidurias (OADs) and urea cycle disorders (UCDs) are inborn metabolic disorders with a risk for acute and chronic metabolic decompensation resulting in impairments of the central nervous system and oth...
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Article
Peer review fraud—it’s not big and it’s not clever
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Article
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn defect disturbing the remethylation of homocysteine to methionine (<200 reported cases). This retrospective study evaluates clinic...
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Article
Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study
Traditional approaches for nighttime glycemic control in glycogen storage disease type I (GSDI) include continuous tube feeding, or ingestion of uncooked corn starch (CS) at bedtime. A modified corn starch (MC...
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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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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...
