Works matching IS 01418955 AND DT 2008 AND VI 31 AND IP 3
Results: 21
Methylmalonic aciduria: current faces of a “classical” organic aciduria.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 293, doi. 10.1007/s10545-008-9977-y
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- Article
Newborn screening for methylmalonic acidurias—Optimization by statistical parameter combination.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 379, doi. 10.1007/s10545-008-0892-z
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- Article
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 361, doi. 10.1007/s10545-008-0804-2
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- Article
Causes of and diagnostic approach to methylmalonic acidurias.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 350, doi. 10.1007/s10545-008-0839-4
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- Article
Movement disorders and inborn errors of metabolism in adults: A diagnostic approach.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 308, doi. 10.1007/s10545-008-0854-5
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- Article
Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 319, doi. 10.1007/s10545-008-0779-z
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- Article
Mefolinate (5-methyltetrahydrofolate), but not folic acid, decreases mortality in an animal model of severe methylenetetrahydrofolate reductase deficiency.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 403, doi. 10.1007/s10545-008-0645-z
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- Article
Reduced carbohydrate intake in citrin-deficient subjects.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 386, doi. 10.1007/s10545-008-0752-x
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- Article
Clinical characterization of cardiovascular abnormalities associated with feline mucopolysaccharidosis I and VI.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 424, doi. 10.1007/s10545-008-0821-1
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- Article
Renal tubular function in children with tyrosinaemia type I treated with nitisinone.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 399, doi. 10.1007/s10545-008-0817-x
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- Article
Reduction in bone mineral density in glycogenosis type III may be due to a mixed muscle and bone deficit.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 418, doi. 10.1007/s10545-008-0830-0
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- Article
The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a ‘ketotic hyperglycinaemia’.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 395, doi. 10.1007/s10545-008-0796-y
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- Publication type:
- Article
Glucose-6-phosphate dehydrogenase deficiency protects against coronary heart disease.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 412, doi. 10.1007/s10545-008-0704-5
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- Article
Leukoencephalopathies associated with inborn errors of metabolism in adults.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 295, doi. 10.1007/s10545-008-0778-0
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- Publication type:
- Article
Genetic variants of transferrin in cystic fibrosis.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 457, doi. 10.1007/s10545-008-0733-0
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- Article
Congenital disorder of glycosylation type Ix: Review of clinical spectrum and diagnostic steps.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 450, doi. 10.1007/s10545-008-0822-0
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- Publication type:
- Article
Baicalein 5,6,7-trimethyl ether activates peroxisomal but not mitochondrial fatty acid β-oxidation.
- Published in:
- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 442, doi. 10.1007/s10545-008-0857-2
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- Publication type:
- Article
Looking beyond the basal ganglia: The spectrum of MRI changes in methylmalonic acidaemia.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 368, doi. 10.1007/s10545-008-0801-5
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- Publication type:
- Article
Neonatal screening in Europe; the situation in 2004.
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- 2008
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- Correction Notice
‘Non-neuronopathic’ Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 337, doi. 10.1007/s10545-008-0832-y
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- Publication type:
- Article
Twenty-four-month α-galactosidase A replacement therapy in Fabry disease has only minimal effects on symptoms and cardiovascular parameters.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 3, p. 432, doi. 10.1007/s10545-008-0848-3
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- Article