Works matching IS 01418955 AND DT 2014 AND VI 37 AND IP 5
Results: 19
Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patients.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 763, doi. 10.1007/s10545-014-9676-9
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- Article
Skin manifestations in CDG.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 699, doi. 10.1007/s10545-014-9678-7
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- Article
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 801, doi. 10.1007/s10545-014-9682-y
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- Article
Early nitisinone treatment reduces the need for liver transplantation in children with tyrosinaemia type 1 and improves post-transplant renal function.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 745, doi. 10.1007/s10545-014-9683-x
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- Article
Aberrant protein acylation is a common observation in inborn errors of acyl-CoA metabolism.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 709, doi. 10.1007/s10545-014-9684-9
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- Article
Constant high adrenal FDG uptake in PET/CT associated with mitochondrial disease.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 863, doi. 10.1007/s10545-014-9685-8
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- Article
Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 823, doi. 10.1007/s10545-014-9686-7
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- Article
Clinical presentation and outcome in a series of 88 patients with the cblC defect.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 831, doi. 10.1007/s10545-014-9687-6
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- Article
Liver disease in infancy caused by oxysterol 7α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 851, doi. 10.1007/s10545-014-9695-6
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- Article
Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 791, doi. 10.1007/s10545-014-9698-3
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- Article
Experimental evidence for protein oxidative damage and altered antioxidant defense in patients with medium-chain acyl-CoA dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 783, doi. 10.1007/s10545-014-9700-0
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- Article
Combined D2-/L2-hydroxyglutaric aciduria ( SLC25A1 deficiency): clinical course and effects of citrate treatment.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 775, doi. 10.1007/s10545-014-9702-y
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- Article
Genistein increases glycosaminoglycan levels in mucopolysaccharidosis type I cell models.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 813, doi. 10.1007/s10545-014-9703-x
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- Article
Characterization of functional domains of the cblD (MMADHC) gene product.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 841, doi. 10.1007/s10545-014-9709-4
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- Article
X-linked creatine transporter deficiency: clinical aspects and pathophysiology.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 715, doi. 10.1007/s10545-014-9713-8
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- Article
Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 753, doi. 10.1007/s10545-014-9716-5
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- Article
Inborn errors of purine metabolism: clinical update and therapies.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 669, doi. 10.1007/s10545-014-9731-6
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- Article
Inborn errors of pyrimidine metabolism: clinical update and therapy.
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 687, doi. 10.1007/s10545-014-9742-3
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- Article
Pharmacologic inhibition of L-tyrosine degradation ameliorates cerebral dopamine deficiency in murine phenylketonuria (PKU).
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- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 735, doi. 10.1007/s10545-013-9675-2
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- Article