Works in Journal of Inherited Metabolic Disease, 2011, Vol 34, Issue 6
Results: 14
Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1199, doi. 10.1007/s10545-011-9332-6
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- Article
Cardiovascular manifestations of Alkaptonuria.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1177, doi. 10.1007/s10545-011-9339-z
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- Article
Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1213, doi. 10.1007/s10545-011-9340-6
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- Article
Mitochondrial diabetes is associated with insulin resistance in subcutaneous adipose tissue but not with increased liver fat content.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1205, doi. 10.1007/s10545-011-9338-0
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- Article
An update on molecular genetics of Alkaptonuria (AKU).
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1127, doi. 10.1007/s10545-011-9363-z
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- Article
Collagen atomic scale molecular disorder in ochronotic cartilage from an alkaptonuria patient, observed by solid state NMR.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1137, doi. 10.1007/s10545-011-9373-x
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- Article
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1183, doi. 10.1007/s10545-011-9359-8
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- Article
A quantitative assessment of alkaptonuria.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1153, doi. 10.1007/s10545-011-9367-8
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- Article
Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1225, doi. 10.1007/s10545-011-9376-7
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- Article
Natural history of alkaptonuria revisited: analyses based on scoring systems.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1141, doi. 10.1007/s10545-011-9374-9
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- Article
Alkaptonuria in France: past experience and lessons for the future.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1115, doi. 10.1007/s10545-011-9392-7
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- Article
Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis.
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- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1163, doi. 10.1007/s10545-011-9377-6
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- Article
Alkaptonuria: treasure your exceptions.
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- 2011
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- Editorial
Erratum to: Isolated remethylation disorders: do our treatments benefit patients?
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- 2011
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- Correction Notice