Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1199, doi. 10.1007/s10545-011-9332-6
- By:
- Publication type:
- Article
Works matching IS 01418955 AND DT 2011 AND VI 34 AND IP 6
Results: 14
1
2
Cardiovascular manifestations of Alkaptonuria.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1177, doi. 10.1007/s10545-011-9339-z
- By:
- Publication type:
- Article
3
Molecular insights into the pathogenicity of variants associated with the aromatic amino acid decarboxylase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1213, doi. 10.1007/s10545-011-9340-6
- By:
- Publication type:
- Article
4
Mitochondrial diabetes is associated with insulin resistance in subcutaneous adipose tissue but not with increased liver fat content.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1205, doi. 10.1007/s10545-011-9338-0
- By:
- Publication type:
- Article
5
An update on molecular genetics of Alkaptonuria (AKU).
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1127, doi. 10.1007/s10545-011-9363-z
- By:
- Publication type:
- Article
6
Collagen atomic scale molecular disorder in ochronotic cartilage from an alkaptonuria patient, observed by solid state NMR.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1137, doi. 10.1007/s10545-011-9373-x
- By:
- Publication type:
- Article
7
Alkaptonuria in France: past experience and lessons for the future.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1115, doi. 10.1007/s10545-011-9392-7
- By:
- Publication type:
- Article
8
A quantitative assessment of alkaptonuria.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1153, doi. 10.1007/s10545-011-9367-8
- By:
- Publication type:
- Article
9
Natural history of alkaptonuria revisited: analyses based on scoring systems.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1141, doi. 10.1007/s10545-011-9374-9
- By:
- Publication type:
- Article
10
Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1225, doi. 10.1007/s10545-011-9376-7
- By:
- Publication type:
- Article
11
Redox-proteomics of the effects of homogentisic acid in an in vitro human serum model of alkaptonuric ochronosis.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1163, doi. 10.1007/s10545-011-9377-6
- By:
- Publication type:
- Article
12
Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 6, p. 1183, doi. 10.1007/s10545-011-9359-8
- By:
- Publication type:
- Article
13
Alkaptonuria: treasure your exceptions.
- Published in:
- 2011
- By:
- Publication type:
- Editorial
14
Erratum to: Isolated remethylation disorders: do our treatments benefit patients?
- Published in:
- 2011
- By:
- Publication type:
- Correction Notice